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Gene: Gabra5 MGI:95617

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Gene Summary

Name:
gamma-aminobutyric acid type A receptor subunit alpha 5
Synonyms:
A230018I05Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal thymus morphology Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Gabra5em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

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 Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Gabra5 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.

The table below shows human diseases associated to Gabra5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Difficulty walking, Attention deficit hyperactivity disorder, Ataxia, Unste... ORPHA:442835
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Frontotemporal cerebral atrophy OMIM:618559

The table below shows human diseases predicted to be associated to Gabra5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Cognitive impairment, Sensorineural hearing impairment ORPHA:3465
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Deafness, Autosomal Recessive 100
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618422
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Deafness, Autosomal Recessive 57
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Dominant 76
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Mental deterioration, Hearing impairment, Sensorineural hearing impairment, Profound sensorineura... OMIM:619196
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Ethanolaminosis
Cardiomegaly OMIM:227150
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 121
Vestibular hypofunction, Sensorineural hearing impairment OMIM:620551
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Mental deterioration, Prelingual sensorineural hearing impairment, ... ORPHA:52368
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Merrf
Optic atrophy, Cognitive impairment, Sensorineural hearing impairment ORPHA:551
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Subcortical... ORPHA:231169
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Kleine-Levin Syndrome
Transient global amnesia, Polydipsia, Confusion, Abnormal eating behavior, Sweet craving, Polypha... ORPHA:33543
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhe... OMIM:235200
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Neuropathy, Hereditary Sensory, Type Ie
Memory impairment, Hearing impairment, Cerebral atrophy, Dementia, Sensorineural hearing impairme... OMIM:614116
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Frontal lobe dementia, Sensorineural he... OMIM:615911
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Middle Ear Neuroendocrine Tumor
Abnormal tympanic membrane morphology, Unilateral conductive hearing impairment, Sensorineural he... ORPHA:100084
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Sensorineural he... OMIM:616192
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Portal hypertension... ORPHA:465508
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Decreased nerve... ORPHA:206443
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Deafness, Autosomal Dominant 58
Tinnitus, Sensorineural hearing impairment OMIM:615654
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Mirage Syndrome
Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... OMIM:617053
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... OMIM:256550
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... ORPHA:206436
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Ventricular ... OMIM:601186
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, EEG abnormality... ORPHA:206448
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment OMIM:620469
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Cervical spinal cord atrophy, Sensorineural hearing impairme... ORPHA:101085
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Crouzon Syndrome
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment ORPHA:207
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Wolfram Syndrome 1
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Tes... OMIM:222300
Nephronophthisis 9
Polydipsia OMIM:613824
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hypo... ORPHA:79330
Familial Cold Urticaria
Polydipsia ORPHA:47045
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Brain-Lung-Thyroid Syndrome
Falls, Abnormal eating behavior, Short attention span, Agenesis of corpus callosum, Abnormal drin... ORPHA:209905
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Salt craving, Ataxia ORPHA:199343
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal motor evoked pot... ORPHA:909
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Short... ORPHA:251061
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Teratoma, Pineal
Polydipsia OMIM:273120
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ochoa Syndrome
Polydipsia ORPHA:2704
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypothyroidism OMIM:601005
Bardet-Biedl Syndrome 17
Polydipsia, Cognitive impairment OMIM:615994
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Cystinosis
Polydipsia, Gait disturbance, Motor stereotypy ORPHA:213
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee... ORPHA:699
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias OMIM:616897
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis ORPHA:42
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly OMIM:617713
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Tick-Borne Encephalitis
Hearing impairment, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve m... ORPHA:297
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Hyperactivity ORPHA:525731
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... OMIM:618278
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas... OMIM:620376
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... OMIM:216400
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice, Hepatom... ORPHA:57777
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa... OMIM:614921
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Cardiomegaly ORPHA:349
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Septo-Optic Dysplasia Spectrum
Polydipsia, Agenesis of corpus callosum ORPHA:3157
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:608013
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Nephronophthisis 4
Polydipsia OMIM:606966
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia ORPHA:369929
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... OMIM:133540
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Whipple Disease
Ataxia, Polydipsia, Anorexia ORPHA:3452
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polydipsia, Dysdiadochokinesis, Ataxia OMIM:612780
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Nephronophthisis 1
Polydipsia OMIM:256100
Senior-Boichis Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Polydipsia, Agitation ORPHA:84081
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Cardiomegaly, Hepatic calcification, H... OMIM:608836
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:230000
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Nephronophthisis 11
Polydipsia OMIM:613550
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... OMIM:620371
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Adenoiditis, Splenomegaly, Abnormal mitral valve morphology, Abnormal aort... ORPHA:581
Nephronophthisis 3
Polydipsia OMIM:604387
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal myocardium morph... ORPHA:228308
Wolfram Syndrome
Dementia, Polydipsia, Ataxia ORPHA:3463
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Renal Hypoplasia
Polydipsia ORPHA:93101
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia OMIM:617994
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... ORPHA:116
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Gitelman Syndrome
Salt craving, Polydipsia, Ataxia OMIM:263800
Ogden Syndrome
Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo... OMIM:300855
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Infantile Nephropathic Cystinosis
Polydipsia, Cognitive impairment ORPHA:411629
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Abetalipoproteinemia
Hepatic fibrosis, Acanthocytosis, Reticulocytosis, Hepatic steatosis, Cardiomegaly, Hepatomegaly,... ORPHA:14
Helix Syndrome
Polydipsia OMIM:617671
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Panhypophysitis
Polydipsia ORPHA:95513
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... ORPHA:51
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis... OMIM:256040
Oligomeganephronia
Polydipsia ORPHA:2260
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology ORPHA:97297
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Erdheim-Chester Disease
Polydipsia, Ataxia ORPHA:35687
Norrie Disease
Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sensorineural hearing impair... ORPHA:649
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Decreased response to growt... ORPHA:273
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Lymphan... ORPHA:744
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... ORPHA:798
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Difficulty walking, Attention deficit hyperactivity disorder, Ataxia, Unste... ORPHA:442835
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Polyphagia, Aggressive behavior, Compulsive behaviors ORPHA:293987
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... ORPHA:3472
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Cystinosis, Nephropathic
Progressive neurologic deterioration, Polydipsia, Dysphagia OMIM:219800
Parathyroid Carcinoma
Polydipsia, Dysphagia ORPHA:143
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Williams Syndrome
Precocious puberty, Cholelithiasis, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Type II dia... ORPHA:904
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cognitive impairment ORPHA:731
Gitelman Syndrome
Salt craving, Polydipsia ORPHA:358
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Polydipsia OMIM:241200
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Pancreatic calcification, Cardiomegaly, Hepatic c... ORPHA:51608
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Frontotemporal cerebral atrophy OMIM:618559

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 Gabra5

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 Gabra5.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ablation of Gabra5 Influences Corticosterone Levels and Anxiety-like Behavior in Mice. Genes (January 2023) Gabra5em1(IMPC)Ccpcz PMC9956889

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MGI Allele Allele Type Produced
Gabra5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gabra5tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gabra5em1(IMPC)Ccpcz Exon Deletion Mice

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