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Gene: Adra2a MGI:87934

Gene Summary

Name:

adrenergic receptor, alpha 2a

Synonyms:

alpha2A-AR, alpha(2A)AR, Adra-2a, Adra-2, alpha2A, alpha2A-adrenergic receptor

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased startle reflex	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.50×10^-05
small testis	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
improved glucose tolerance	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.63×10^-08
abnormal testis morphology	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
hyperactivity	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.71×10^-05
decreased prepulse inhibition	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.79×10^-05
decreased fasting circulating glucose level	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.50×10^-09

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	50% (1 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	100% (2 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	100% (2 of 2)
Epididymis	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	50% (1 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	100% (2 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	100% (2 of 2)
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	50% (1 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Quadriceps	N/A	heterozygote	50% (1 of 2)
Sciatic nerve	N/A	heterozygote	100% (2 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	100% (2 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Trigeminal V nerve	N/A	heterozygote	100% (2 of 2)
Urinary bladder	N/A	heterozygote	50% (1 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vagina	N/A	heterozygote	Not available
Vas deferens	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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Adult LacZ

LacZ Images Section

113 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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Human diseases caused by Adra2a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Adra2a (0 diseases)
Human diseases predicted to be associated with Adra2a (913 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adra2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Myoclonic Epilepsy, Hartung Type	Generalized myoclonic seizure	OMIM:159600
Intellectual Developmental Disorder, X-Linked 89	Generalized myoclonic seizure	OMIM:300848
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Epilepsy, Familial Temporal Lobe, 7	Focal sensory seizure with auditory features	OMIM:616436
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614280
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Epilepsy, Familial Temporal Lobe, 4	Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features	OMIM:611631
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:611364
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Febrile Seizures, Familial, 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611634
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:618482
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S...	OMIM:609446
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil...	ORPHA:139426
Developmental And Epileptic Encephalopathy 19	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615744
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Epilepsy, Childhood Absence, Susceptibility To, 1	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:600131
Febrile Seizures, Familial, 8	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:607681
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur...	OMIM:616056
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Dravet Syndrome	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta...	OMIM:607208
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-...	OMIM:614417
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia	ORPHA:293964
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:618596
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Insulinomatosis And Diabetes Mellitus	Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h...	OMIM:147630
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Developmental And Epileptic Encephalopathy 57	Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure	OMIM:617771
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se...	ORPHA:725
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Developmental And Epileptic Encephalopathy 31A	Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure...	OMIM:616346
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Myoclonic-Atonic Epilepsy	Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen...	OMIM:616421
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:618873
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,...	OMIM:618587
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure	OMIM:616409
Developmental And Epileptic Encephalopathy 52	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,...	OMIM:617350
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	ORPHA:79137
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs...	OMIM:617113
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Focal-onset seizure	OMIM:602066
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Epilepsy With Eyelid Myoclonia	Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of...	ORPHA:139431
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic...	OMIM:618141
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure	OMIM:254800
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Myoclonic Epilepsy Of Infancy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:86909
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Lennox-Gastaut Syndrome	Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic...	ORPHA:2382
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te...	ORPHA:324575
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus...	OMIM:613855
Epilepsy, Progressive Myoclonic, 6	Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur...	OMIM:614018
Generalized Epilepsy With Febrile Seizures-Plus	Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi...	ORPHA:36387
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu...	OMIM:619157
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot...	OMIM:619338
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Landau-Kleffner Syndrome	Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non...	ORPHA:98818
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Developmental And Epileptic Encephalopathy 56	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Status ...	OMIM:617665
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Cardiomyopathy, Familial Hypertrophic, 7	Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki...	OMIM:613690
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276580
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure	OMIM:612621
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Developmental Delay With Or Without Epilepsy	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:620540
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Myoclonus, Focal-onset seizure	ORPHA:86814
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Seizure	OMIM:613886
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ...	OMIM:601764
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Bilateral tonic-clon...	ORPHA:2590
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab...	ORPHA:90064
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ...	OMIM:619317
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Schizophrenia 15	Hyperactivity	OMIM:613950
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276575
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Glycosylphosphatidylinositol Biosynthesis Defect 1	Generalized non-motor (absence) seizure, Atonic seizure	OMIM:610293
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Arthrogryposis, Impaired Intellectual Development, And Seizures	Focal motor seizure, Generalized non-motor (absence) seizure	OMIM:615553
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Diabetes mellitus	ORPHA:79084
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B...	OMIM:620145
Variegate Porphyria	Tachycardia	OMIM:176200
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi...	OMIM:617711
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac...	OMIM:612158
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Glycogen Storage Disease Vi	Hypoglycemia	OMIM:232700
Bilateral Frontoparietal Polymicrogyria	Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s...	ORPHA:101070
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r...	OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v...	OMIM:608751
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Dravet Syndrome	Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r...	ORPHA:33069
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71526
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dystonia, Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Rolandic Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit...	ORPHA:1945
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ...	OMIM:619616
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-...	OMIM:271980
Bilateral Generalized Polymicrogyria	Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas...	ORPHA:208447
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617836
Lipoid Proteinosis Of Urbach And Wiethe	Seizure, Generalized non-motor (absence) seizure	OMIM:247100
Paroxysmal Exertion-Induced Dyskinesia	Generalized non-motor (absence) seizure, Seizure	ORPHA:98811
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca...	ORPHA:276556
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus	OMIM:616033
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni...	OMIM:617810
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni...	OMIM:607745
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Intellectual Developmental Disorder, Autosomal Recessive 47	Focal impaired awareness seizure	OMIM:616193
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co...	ORPHA:280356
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ...	OMIM:619854
Diarrhea 13	Recurrent hypoglycemia	OMIM:620357
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat...	OMIM:619913
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia	ORPHA:171706
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Pyridoxine-Dependent Epilepsy	Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep...	ORPHA:3006
Propionic Acidemia	Hypoglycemia	ORPHA:35
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Intellectual Developmental Disorder, Autosomal Dominant 39	Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615637
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ...	ORPHA:411986
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:616281
Clcn4-Related X-Linked Intellectual Disability Syndrome	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur...	ORPHA:485350
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia, Tremor	OMIM:313200
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Mitochondrial Complex I Deficiency, Nuclear Type 21	Generalized non-motor (absence) seizure	OMIM:618242
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Developmental And Epileptic Encephalopathy 28	Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali...	OMIM:616211
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Morm Syndrome	Micropenis, Aggressive behavior, Hyperactivity	ORPHA:75858
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag...	ORPHA:449285
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia	OMIM:301107
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperi...	ORPHA:263455
Myoclonic-Astatic Epilepsy	Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clo...	ORPHA:1942
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
3-Methylglutaconic Aciduria Type 4	Hypoglycemia	ORPHA:67048
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul...	OMIM:212138
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei...	OMIM:617600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei...	OMIM:618170
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a...	ORPHA:64280
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Intellectual Developmental Disorder, X-Linked 30	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:300558
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension	OMIM:613870
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Resting tremor, Tremor, Aggressive behavior, Hyperactivity, Anore...	ORPHA:3077
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni...	OMIM:619428
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Lafora Disease	Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ...	ORPHA:501
Nicolaides-Baraitser Syndrome	Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure	ORPHA:3051
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli...	ORPHA:2298
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure	ORPHA:544254
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc...	ORPHA:785
Liang-Wang Syndrome	Status epilepticus, Generalized non-motor (absence) seizure	OMIM:618729
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Tubulinopathy-Associated Dysgyria	Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure	ORPHA:467166
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized-onset seizure, Myoclonic seizure, Focal-onset seizure, Generalized non-motor (absence...	OMIM:620166
Intellectual Developmental Disorder, Autosomal Dominant 74	Typical absence seizure, Bilateral tonic-clonic seizure	OMIM:620688
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Satb2-Associated Syndrome Due To A Pathogenic Variant	Typical absence seizure, Seizure	ORPHA:576283
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Intellectual Developmental Disorder, Autosomal Dominant 67	Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b...	OMIM:619927
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Developmental And Epileptic Encephalopathy 110	Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure	OMIM:620149
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Galactokinase Deficiency	Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia	ORPHA:79237
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia	OMIM:617872
Glycogen Storage Disease Iii	Hypoglycemia	OMIM:232400
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:26792
Acth Deficiency, Isolated	Fasting hypoglycemia	OMIM:201400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure	OMIM:613839
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia	OMIM:619048
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Periventricular Nodular Heterotopia 7	Infantile spasms, Seizure, Generalized non-motor (absence) seizure	OMIM:617201
Timothy Syndrome	Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr...	OMIM:601005
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C...	ORPHA:860
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet...	OMIM:246200
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Focal-onset seizure, Focal tonic ...	ORPHA:168491
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Glycogen Storage Disease Ixa1	Hypoglycemia	OMIM:306000
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Recurrent hypoglycemia	ORPHA:94086
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia	ORPHA:289504
Hyperprolinemia Type 2	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure...	ORPHA:79101
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis	ORPHA:382
Lissencephaly Due To Lis1 Mutation	Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Atonic se...	ORPHA:95232
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia	OMIM:261680
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure	OMIM:617183
Myotonic Dystrophy 2	Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block	OMIM:602668
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:615160
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia	ORPHA:199296
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:618354
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho...	ORPHA:85327
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia	OMIM:613205
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT...	ORPHA:26793
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bursts of l...	OMIM:618718
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia	OMIM:618838
Hemochromatosis, Type 1	Azoospermia, Glucose intolerance, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, ...	OMIM:235200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Fragile X Syndrome	Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac...	OMIM:300624
Stiff Person Spectrum Disorder	Hypothyroidism, Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia	OMIM:619386
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Non-Acquired Isolated Growth Hormone Deficiency	Neonatal hypoglycemia	ORPHA:631
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia	ORPHA:79264
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater...	ORPHA:98795
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Wolfram Syndrome 1	Tremor, Hypothyroidism, Dysphagia, Testicular atrophy, Diabetes insipidus, Diabetes mellitus	OMIM:222300
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, M...	ORPHA:8
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypoglycemia	ORPHA:369
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le...	OMIM:614736
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure	ORPHA:49827
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Tularemia	Tachycardia	ORPHA:3392
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hypoglycemia	ORPHA:5
2,4-Dienoyl-Coa Reductase Deficiency	Myoclonic absence seizure, Seizure	OMIM:616034
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Acrodysostosis 2 With Or Without Hormone Resistance	Congenital hypothyroidism, Cryptorchidism, Hyperactivity, Hypospadias, Diabetes mellitus	OMIM:614613
Congenital Generalized Lipodystrophy	Insulin resistance, Hyperinsulinemia, Precocious puberty in females, Diabetes mellitus	ORPHA:528
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s...	ORPHA:71212
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia	ORPHA:254516
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage	ORPHA:335
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Mandibuloacral Dysplasia	Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	ORPHA:2457
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Status epilepticus, Tonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:300260
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he...	ORPHA:90068
Myotonic Dystrophy 1	Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia	OMIM:160900
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia	OMIM:614702
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Glycosuria, Hypoglycemia	OMIM:616026
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia	ORPHA:2394
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension	ORPHA:43116
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Laron Syndrome	Hypoglycemia	ORPHA:633
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Atonic ...	ORPHA:79351
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension	ORPHA:139411
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy	ORPHA:159
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia	ORPHA:156
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Den Hoed-De Boer-Voisin Syndrome	Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus, Focal-onset...	OMIM:619229
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sei...	OMIM:616973
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:769
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio...	OMIM:616878
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur...	ORPHA:457351
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypoglycemia	ORPHA:35708
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:615398
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia	OMIM:245400
Malignant Hyperthermia Of Anesthesia	Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou...	ORPHA:423
Intellectual Developmental Disorder, X-Linked 98	Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ...	OMIM:300912
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure	ORPHA:363686
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response	ORPHA:309246
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Pulmonic stenosis	ORPHA:3426
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia	OMIM:614653
Dpm1-Cdg	Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seizure, Generalized myo...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Tachycardi...	OMIM:614921
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ...	OMIM:275000
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic sei...	ORPHA:395
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Aica-Ribosiduria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ...	ORPHA:449291
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Porphyria Variegata	Tachycardia, Hypertension	ORPHA:79473
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper...	ORPHA:94093
Maple Syrup Urine Disease, Type Ia	Hypoglycemia	OMIM:248600
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Generalized non-motor (absence) seizure	OMIM:612337
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:615802
Classic Galactosemia	Hypoglycemia	ORPHA:79239
Solitary Fibrous Tumor	Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia	ORPHA:2126
Lesch-Nyhan Syndrome	Self-injurious behavior, Opisthotonus, Testicular atrophy, Dystonia, Dysphagia, Choreoathetosis	OMIM:300322
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia	OMIM:618839
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Hand tremor, Goiter,...	ORPHA:99819
Cholera	Tachycardia, Hypotension, Hypovolemic shock	ORPHA:173
Renal Nutcracker Syndrome	Tachycardia, Syncope, Orthostatic hypotension	ORPHA:71273
Kleefstra Syndrome Due To 9Q34 Microdeletion	Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure	ORPHA:96147
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hyperglycemia, Decreased libido, Hypogonadotropic hyp...	ORPHA:465508
Early Infantile Epileptic Encephalopathy	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:1934
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	ORPHA:348
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia	OMIM:619046
Bacterial Toxic-Shock Syndrome	Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak	ORPHA:36234
Acquired Generalized Lipodystrophy	Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:79086
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia	OMIM:210200
Hsd10 Disease, Infantile Type	Hypoglycemia	ORPHA:391428
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre...	ORPHA:1686
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he...	ORPHA:340
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia	OMIM:602579
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Impaired glucose...	ORPHA:2088
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Seizure, Generalized non-motor (absence) seizure	OMIM:617360
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest	OMIM:277400
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoglycemia, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, D...	ORPHA:95496
Eisenmenger Syndrome	Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr...	ORPHA:97214
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Hand tremor, Goiter,...	ORPHA:424
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Propionic Acidemia	Hypoglycemia	OMIM:606054
Angelman Syndrome	Seizure, Infantile spasms, Myoclonus, Atonic seizure, Atypical absence seizure, Status epilepticu...	ORPHA:72
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized non-motor (absence) seizure	OMIM:620224
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia	OMIM:617049
Long-Olsen-Distelmaier Syndrome	Hypoglycemia	OMIM:620609
Crimean-Congo Hemorrhagic Fever	Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival...	ORPHA:99827
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Lipodystrophy, Familial Partial, Type 2	Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus	OMIM:151660
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia	OMIM:606407
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Syncope	ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:617798
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Agitation, Hyperactivity, Exaggerated startle response, Dystonia, Im...	OMIM:620423
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag...	OMIM:608643
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hypoglycemia	OMIM:605911
Reni Syndrome	Hypoglycemia	OMIM:617575
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Hand tremor, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficie...	OMIM:157640
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat...	ORPHA:505248
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Tremor, Exaggerated startle response	OMIM:620327
Gitelman Syndrome	Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia	OMIM:263800
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia	OMIM:617877
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus	OMIM:248370
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Glutaric Acidemia I	Hypoglycemia	OMIM:231670
Immunodeficiency 10	Hypoglycemia	OMIM:612783
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia	OMIM:251000
Graft Versus Host Disease	Tachycardia	ORPHA:39812
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper...	ORPHA:508
Prader-Willi Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre...	OMIM:176270
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper...	OMIM:203800
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
D-Glyceric Aciduria	Hypoglycemia	OMIM:220120
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Multiple Acyl-Coa Dehydrogenase Deficiency	Glycosuria, Hypoglycemia	OMIM:231680
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Weaver Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:277590
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:134
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General...	ORPHA:369837
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizure, Atonic...	ORPHA:404454
Atelis Syndrome 2	Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:620185
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia	OMIM:607143
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Hypoglycemia	OMIM:619055
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia	OMIM:620646
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Agitation, Exaggerated startle response	OMIM:618056
Tay-Sachs Disease	Myoclonus, Typical absence seizure, Focal impaired awareness seizure, Seizure	ORPHA:845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia	OMIM:608836
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure	ORPHA:258
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemic seizures, Hypoglycemia	ORPHA:480864
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Infantile s...	OMIM:620455
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:26791
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy...	ORPHA:98855
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Kinsship Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Generalized non-motor (absence) s...	OMIM:619297
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,...	ORPHA:99826
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia	OMIM:201475
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Ketotic hypoglycemia, Fasting hypoglycemia, Recurrent hypoglycemia	ORPHA:79240
Glycogen Storage Disease Ia	Hypoglycemia, Fasting hypoglycemia	OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Fasting hypoglycemia	ORPHA:264580
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:466943
Methylmalonic Aciduria, Cblb Type	Hypoglycemia	OMIM:251110
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia	OMIM:255120
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ...	ORPHA:98863
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia	OMIM:210210
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Typical absence seizure, Seizure	OMIM:618343
Congenital Disorder Of Glycosylation, Type Iiaa	Hypoglycemia	OMIM:620454
Lipodystrophy, Congenital Generalized, Type 1	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Diabetes mellitus, Decreased se...	OMIM:608594
Isolated Complex I Deficiency	Diabetes mellitus, Hypoglycemia	ORPHA:2609
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Mirage Syndrome	Hypoglycemia	OMIM:617053
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia	OMIM:617093
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia	OMIM:618329
Atypical Werner Syndrome	Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l...	ORPHA:79474
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia	ORPHA:565624
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia	ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia	OMIM:620451
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia	OMIM:609015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Sotos Syndrome	Neonatal hypoglycemia, Glucose intolerance	OMIM:117550
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia	OMIM:608779
Lipodystrophy, Congenital Generalized, Type 2	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr...	OMIM:269700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia	ORPHA:445038
Developmental And Epileptic Encephalopathy 111	Premature ventricular contraction, Hypertension, Sinus tachycardia	OMIM:620504
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia	OMIM:610768
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia	ORPHA:99901
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia	OMIM:251880
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia	OMIM:227810
Familial Glucocorticoid Deficiency	Hypoglycemic seizures, Ketotic hypoglycemia	ORPHA:361
Leigh Syndrome	Hypoglycemia	ORPHA:506
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Ogden Syndrome	Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Premature ventri...	OMIM:300855
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec...	ORPHA:273
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Pituitary Apoplexy	Hypoglycemia	ORPHA:95613
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia	ORPHA:90790
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia	ORPHA:66634
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia	OMIM:616271
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr...	ORPHA:280365
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hypoglycemia, Recurrent hypoglycemia	OMIM:256810
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia	ORPHA:20
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Neonatal hypoglycemia, Hypoglycemia	OMIM:619418
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh...	OMIM:620066
Congenital Syphilis	Hypoglycemia	ORPHA:499009
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ...	ORPHA:268261
Degcags Syndrome	Tachycardia, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:619488
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
Shigellosis	Hypoglycemia	ORPHA:810
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Sheehan Syndrome	Hypoglycemia	ORPHA:91355
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Glycogen Storage Disease Ib	Hypoglycemia	OMIM:232220
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:881
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:513456
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia	OMIM:617156
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Holoprosencephaly	Diabetes mellitus, Hypoglycemia	ORPHA:2162
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Arrhythmia, Ven...	ORPHA:254892
Plague	Hypotension, Tachycardia, Arrhythmia, Hematemesis	ORPHA:707
Helsmoortel-Van Der Aa Syndrome	Tonic seizure, Typical absence seizure, Seizure	OMIM:615873
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia	ORPHA:90791
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia	ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Sandhoff Disease	Impotence, Exaggerated startle response	OMIM:268800
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hyperglycemia, Hypoglycemia, Recurrent hypoglycemia	OMIM:124000
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia	ORPHA:157
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonic stenosis, Abnormal heart valve physiology	ORPHA:3384
Perlman Syndrome	Hypoglycemia	OMIM:267000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Typical absence seizure, Seizure	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Typical absence seizure, Seizure	ORPHA:352665
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Congenital hypothyroidism, Dysphagia, Exaggerated startle response	OMIM:617527
Alg12-Cdg	Recurrent hypoglycemia	ORPHA:79324
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure	ORPHA:2636
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response	ORPHA:521426
Acute Adrenal Insufficiency	Hypoglycemia	ORPHA:95409
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia	ORPHA:79282
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular tachycardia, Ab...	ORPHA:558
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypoglycemia	OMIM:252010
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Febri...	OMIM:620330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Hypoglycemia	ORPHA:79259
Glycogen Storage Disease Ic	Hypoglycemia	OMIM:232240
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia	ORPHA:228308
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:612474
Addison Disease	Type I diabetes mellitus, Hypoglycemia	ORPHA:85138
Menkes Disease	Hypoglycemia	ORPHA:565
Glycerol Kinase Deficiency	Hypoglycemia	OMIM:307030
Fructose Intolerance, Hereditary	Glycosuria, Hypoglycemia	OMIM:229600
Tyrosinemia, Type I	Hypoglycemia	OMIM:276700
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr...	ORPHA:91347
Primary Fanconi Renotubular Syndrome	Glycosuria, Hypoglycemia	ORPHA:3337
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Imperforate hymen, Hematocolpos, Cryptorchidism, Motor stereotypy, Chordee, Attention deficit hyp...	OMIM:619522
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Typical absence seizure, Focal-onset seizure, Atonic seizure	OMIM:617157
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:500150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia	ORPHA:226307
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoglycemia	OMIM:613658
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ...	ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Deeah Syndrome	Neonatal hypoglycemia	OMIM:619004
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Uterine prolap...	ORPHA:438213
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy	OMIM:309801
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	ORPHA:99125
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Neonatal hypoglycemia	ORPHA:168558
Legius Syndrome	Paroxysmal atrial tachycardia, Pulmonic stenosis	ORPHA:137605
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Neonatal hypoglycemia	ORPHA:289548
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-...	ORPHA:821
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hypoglycemia	ORPHA:116
Costello Syndrome	Hypoglycemia	OMIM:218040
Neurooculorenal Syndrome	Recurrent hypoglycemia	OMIM:620305
Liver Disease, Severe Congenital	Hyperinsulinemic hypoglycemia, Abnormal circulating thyroid hormone concentration	OMIM:619991
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure	ORPHA:77293
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia	OMIM:617248
Acute Liver Failure	Hypoglycemia	ORPHA:90062
Marshall-Smith Syndrome	Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension	OMIM:602535
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia...	OMIM:142900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Exaggerated startle response	OMIM:618367
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Alström Syndrome	Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo...	ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia	OMIM:201750
Pmm2-Cdg	Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Increased cir...	ORPHA:79318
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968
Mowat-Wilson Syndrome	Atypical absence seizure, Status epilepticus, Seizure, Focal-onset seizure	ORPHA:2152
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Neonatal hypoglycemia	ORPHA:90794
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Atypical absence seizure, Focal-onset seizure, Seizure	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Atypical absence seizure, Focal-onset seizure, Seizure	ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adra2a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adra2a.

No publications found that use IMPC mice or data for Adra2a.

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MGI Allele	Allele Type	Produced
Adra2a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Adra2a^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Adra2a MGI:87934

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

X-ray

Human diseases caused by Adra2a mutations

Histopathology

IMPC related publications

External links

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Access Data Release 21.1 Data