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Gene: Ppargc1b MGI:2444934

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

peroxisome proliferative activated receptor, gamma, coactivator 1 beta

Synonyms:

4631412G21Rik, PGC-1beta/ERRL1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Ppargc1b 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 Ppargc1b (0 diseases)
Human diseases predicted to be associated with Ppargc1b (507 diseases)

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

The table below shows human diseases predicted to be associated to Ppargc1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Hypertriglyceridemia	OMIM:615924
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Elevated circulating aspart...	OMIM:619048
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero...	OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hypertension, Loss of g...	ORPHA:280356
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutaneous adipose tissue,...	OMIM:612526
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss...	OMIM:616516
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hypertension, Lipoatrophy, Skeletal muscl...	OMIM:613877
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp...	OMIM:603471
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid concentration, Lower limb...	OMIM:615980
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia	OMIM:246650
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles...	OMIM:607616
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, De...	OMIM:618235
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Gait di...	OMIM:618400
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Hypertriglyceridemia 1	Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:145750
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J...	OMIM:603552
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance	ORPHA:140941
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Atrial fibrillation, Increased variability in muscle ...	OMIM:613327
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased adipo...	ORPHA:435660
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Glycogen Storage Disease Iv	Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Ascites, Abnormal ci...	OMIM:232500
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Cortisone Reductase Deficiency 2	Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio	OMIM:614662
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Pancreatitis, Loss...	ORPHA:435651
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Hypobetalipoproteinemia, Familial, 1	Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspart...	OMIM:615558
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia	ORPHA:941
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Decreased act...	OMIM:618234
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At...	OMIM:212138
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegal...	ORPHA:2348
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized lipodystrophy, Hepatic steatosis, Reduced subcutaneous adipose tissue, Myopathy, Cirr...	ORPHA:363400
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Loss of facial adipose tissue, Hepatic ste...	ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalani...	OMIM:614702
Congenital Generalized Lipodystrophy	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Adip...	ORPHA:528
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, Hepatic steatosis, Loss...	OMIM:604367
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula...	OMIM:151660
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis, Myopathy	ORPHA:79087
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglo...	ORPHA:95717
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Elevat...	OMIM:615381
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:42
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, At...	OMIM:608776
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death	OMIM:615918
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Hepatic stea...	ORPHA:26792
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,...	ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hyper...	OMIM:619386
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear...	OMIM:212140
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating...	ORPHA:369840
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu...	OMIM:277460
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre...	OMIM:600649
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Cirr...	OMIM:606069
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr...	ORPHA:139507
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi...	ORPHA:66529
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosis, Elevate...	OMIM:618805
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Decreased activity of the pyruvate dehydr...	OMIM:616277
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Cardiomyopathy, Generalized lipodystrophy, Abnormal car...	ORPHA:79086
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia...	OMIM:614654
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Hsd10 Mitochondrial Disease	Hypoglycemia, Abnormal mitochondrial morphology	OMIM:300438
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficul...	ORPHA:98907
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Acro...	OMIM:614407
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis...	OMIM:610717
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato...	OMIM:617872
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He...	ORPHA:412
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati...	ORPHA:1414
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia	OMIM:616276
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Ddost-Cdg	Hepatic steatosis, Lipodystrophy, Failure to thrive, Elevated circulating hepatic transaminase co...	ORPHA:300536
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f...	ORPHA:158057
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c...	OMIM:614582
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype...	OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ...	ORPHA:2088
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Failure to thrive, Inguinal hernia, Pulmonary arterial hypertension, Dec...	OMIM:619272
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circulating asparta...	OMIM:610198
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Decreased HDL cholesterol conce...	OMIM:618620
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ...	ORPHA:95716
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopath...	ORPHA:70472
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Umbilical hernia, Large for gestational age, Bradycardia, Prolonged neonatal jaundice, Macroglossia	ORPHA:226313
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept...	OMIM:601005
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch...	OMIM:616834
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypocholesterolemia, Elbow flexion contracture, Knee flexion contra...	OMIM:618156
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Elevat...	OMIM:615595
Glutamine Deficiency, Congenital	Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture	OMIM:610015
Hemophagocytic Lymphohistiocytosis, Familial, 2	Ataxia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circu...	OMIM:603553
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:212065
Potocki-Lupski Syndrome	Failure to thrive, Hypocholesterolemia, Patent foramen ovale, Atrial septal defect, Small for ges...	OMIM:610883
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level	OMIM:610768
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Lethargy, Transient hyp...	ORPHA:156
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy	OMIM:615119
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Wilson Disease	Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:905
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Increased myocardial glycogen content, Ventricular fibrillat...	OMIM:261740
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass...	ORPHA:263297
Lcat Deficiency	Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ...	ORPHA:650
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Illum Syndrome	Arthrogryposis multiplex congenita, Calcinosis, Bradycardia	OMIM:208155
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Elevated circulating hepatic transaminase concentration, Hyperlipidemia	ORPHA:2089
Infant Acute Respiratory Distress Syndrome	Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia	ORPHA:70587
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Limb hypertonia, Inguinal hernia, Joint contracture, Bradycardia	OMIM:614498
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating...	ORPHA:98908
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo...	OMIM:609286
Griscelli Syndrome Type 1	Hyperlipidemia, Ataxia	ORPHA:79476
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated...	ORPHA:79240
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g...	OMIM:261750
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Obesity, Partial atrioventricular canal defect, Hepatic steatosis, Ventri...	OMIM:615996
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Acute hepatic failure, Decreased activity of mitochondrial complex IV, Hepatic steat...	OMIM:256810
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus	ORPHA:90301
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu...	ORPHA:90674
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:98855
Obesity And Hypopigmentation	Obesity, Hepatic steatosis	OMIM:620195
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
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance	OMIM:620639
Seckel Syndrome 10	Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl...	OMIM:617253
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ...	ORPHA:860
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Focal Segmental Glomerulosclerosis 1	Ascites, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Sepsis In Premature Infants	Hypotension, Decreased liver function, Splenomegaly, Cyanosis, Decreased body weight, Hepatomegal...	ORPHA:90051
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Abnormality of th...	ORPHA:298
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbilical hernia, Genera...	OMIM:608594
Necrotizing Enterocolitis	Hypotension, Ascites, Shock, Abnormal heart morphology, Cyanosis, Hyponatremia, Peritonitis, Brad...	ORPHA:391673
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia, Hypertrophic cardiomyopathy	OMIM:618810
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Dpm1-Cdg	Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Fa...	ORPHA:79322
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper...	ORPHA:439232
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Obesity, Hyperlipidemia, Mitral regurgitation, Hepatic steatosis, Ventricul...	ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo...	OMIM:269700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc...	OMIM:608836
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:98863
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,...	OMIM:231530
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:98853
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas...	ORPHA:228308
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperlipidemia, ...	ORPHA:189427
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of...	OMIM:500013
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Failure to thrive, Hepatic steatosis, Inguinal hernia, Mitral valve prolapse,...	OMIM:236200
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglo...	ORPHA:90673
Reni Syndrome	Ataxia, Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypertriglyc...	OMIM:617591
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Low plasma citrulli...	OMIM:261680
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, De...	OMIM:614924
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Failure to thrive in infancy, Cholestasis, Tricuspid re...	ORPHA:746
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:619487
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ataxia	OMIM:275630
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ...	ORPHA:70
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f...	OMIM:617093
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Werner Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin A1c, Elevated ...	OMIM:277700
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Abnormal mitochondrial shape, Elevated circulatin...	ORPHA:17
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Decreased activity of mitochondrial complex I	OMIM:615578
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Failure to thrive, Hypomethioninemia, Pulmonary arterial hypertens...	OMIM:277400
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ...	ORPHA:1329
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Bive...	ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Decreased activity of mitochondrial complex IV, Hyperammonemia, Microvesicular...	OMIM:616672
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate...	OMIM:615486
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid con...	ORPHA:77293
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatic steatosis, Neonatal death, Lethargy, Stillbirth, Hepatomegaly	OMIM:614922
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia	ORPHA:2430
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ...	ORPHA:2298
Smith-Magenis Syndrome	Gait disturbance, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Hyperp...	ORPHA:94093
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive, Myopathy	ORPHA:977
Maternal Uniparental Disomy Of Chromosome 4	Limb-girdle muscular dystrophy, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating c...	ORPHA:96180
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Tetanus	Tachycardia, Hypertension, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Decreased activity of mitochondrial complex IV, Sinus bradycardia, Joint ...	OMIM:618397
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Multiple joint contra...	ORPHA:2959
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance	OMIM:214150
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Failure to thrive, Bra...	OMIM:220120
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema...	ORPHA:2137
Placental Insufficiency	Insulin resistance	ORPHA:439167
Combined Oxidative Phosphorylation Defect Type 39	Limb hypertonia, Congenital foot contractures, Bradycardia	ORPHA:565624
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepatic glycogen content...	ORPHA:79259
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexio...	OMIM:614653
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Lethargy, Acute hepatic steatosis	OMIM:210200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Skelet...	OMIM:616263
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:348
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis	OMIM:619273
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypertriglyceridemia	ORPHA:31150
Mody	Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc...	ORPHA:552
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,...	OMIM:203800
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Asci...	OMIM:619573
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Inability to walk, H...	OMIM:615356
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Jaundice, Tachycardia, Diffuse alveolar hemorrhage, Ascites, Bundle branch block, H...	ORPHA:99827
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Short Syndrome	Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:269880
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri...	ORPHA:39812
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Chédiak-Higashi Syndrome	Ataxia, Elevated circulating hepatic transaminase concentration, Decreased liver function, Increa...	ORPHA:167
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re...	ORPHA:90363
Bohring-Opitz Syndrome	Cholelithiasis, Congenital contracture, Annular pancreas, Cardiomegaly, Severe failure to thrive,...	ORPHA:97297
Glossopharyngeal Neuralgia	Jaw claudication, Syncope, Weight loss, Bradycardia	ORPHA:221098
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial sept...	OMIM:617303
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Abnormal mitochondrial morphology	OMIM:302060
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Shock, Myocarditis, Bradyca...	ORPHA:319213
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal ...	ORPHA:436271
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decrea...	OMIM:261515
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc...	OMIM:619377
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:157
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number	ORPHA:352447
Gaisböck Syndrome	Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Incre...	ORPHA:90041
Monosomy 13Q34	Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Common atrium, Hypercalcemia, Pulmonic stenosis	ORPHA:96168
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	ORPHA:66634
Glycerol Kinase Deficiency	Hyperglycerolemia, Lethargy, Chronic pancreatitis, Hypertriglyceridemia	OMIM:307030
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hyp...	ORPHA:20
H Syndrome	Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia	ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:618329
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Palpitations, Rhabdomyolysis, Hypokalemia, Weight loss, Tachycardia	OMIM:188580
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,...	OMIM:277900
Sheehan Syndrome	Obesity, Palpitations, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotensio...	ORPHA:91355
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Hyperuricem...	OMIM:232200
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Large for gestational age, Hypophosphate...	ORPHA:263455
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy	OMIM:602541
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypomag...	ORPHA:699
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:124000
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Splenomegal...	OMIM:232220
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Generalized lip...	OMIM:619127
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:613658
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Cholestatic liver disease, Failure to thrive, Hypertrophic cardiomyopathy, Hypoc...	OMIM:270400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran...	ORPHA:404454
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunc...	ORPHA:99826
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Hepatic steatosis, Congestive heart failure	OMIM:616271
Whipple Disease	Hepatomegaly, Splenomegaly, Insulin resistance	ORPHA:3452
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Atrial septal defect, Failure to thrive, Ventricular septal defect	OMIM:244450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of facial musc...	OMIM:220110
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H...	OMIM:229600
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl...	ORPHA:391665
Yellow Fever	Pancreatic hyperplasia, Shock, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:99829
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Hyperbilirubinemia, Bradycardia, Macroglossia, Increased circulating thyroglobu...	OMIM:218700
Werner Syndrome	Insulin resistance, Type II diabetes mellitus	ORPHA:902
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypertrophic c...	OMIM:615846
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglossia, Overweight	ORPHA:226307
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Mitochondrial swelling	OMIM:618250
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Aromatase Deficiency	Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis	ORPHA:91
Prader-Willi Syndrome	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:176270
3-Methylglutaconic Aciduria Type 7	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cardiomyopathy	ORPHA:445038
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Diabetes mellitus	OMIM:616541
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Chondrocalcinosis, Skeletal muscle atrophy, Fa...	ORPHA:79474
Fumarase Deficiency	Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failure, Mitochondrial s...	OMIM:606812
Ogden Syndrome	Torsade de pointes, Hyperbilirubinemia, Ventricular septal defect, Premature ventricular contract...	OMIM:300855
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Bardet-Biedl Syndrome 1	Insulin resistance, Hepatic fibrosis, Diabetes mellitus, Biliary tract abnormality	OMIM:209900
Dubowitz Syndrome	Hypocholesterolemia, Inguinal hernia	OMIM:223370
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Failure to thrive, Increased hepatic ech...	OMIM:619525
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Splenomegaly, Increased muscle lipid content, Elevated circulating creatine kinas...	ORPHA:565612
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplasia of the diap...	OMIM:614437
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, Hepatomegaly, H...	OMIM:232240
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,...	OMIM:256040
Lipodystrophy, Familial Partial, Type 7	Gait ataxia, Dysmetria, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Dysdi...	OMIM:606721
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Azoospermia, Hepatic steatosis, Elevated...	OMIM:210900
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microves...	OMIM:618278
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Failure to thrive, Enamel hypoplasia, Bradycardia, Abnormal blood ion con...	ORPHA:79404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Large for gestational age, Hip contracture, Knee flexion contracture, ...	OMIM:300868
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Hypertrophic cardiomyopathy, Mitral atresia, Decreased activity of mitochondri...	OMIM:220111
Bloom Syndrome	Insulin resistance, Azoospermia, Diabetes mellitus, Oligozoospermia	ORPHA:125
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micr...	OMIM:203700
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Failure to thrive, Bradycardia	OMIM:617248
Gitelman Syndrome	Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Type II diabetes mellitus, Mat...	ORPHA:358
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Hyperaldosteronism, Hyperinsulinemia, Recurrent i...	ORPHA:508
Bardet-Biedl Syndrome	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased HDL choleste...	ORPHA:110
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce...	ORPHA:980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hip contracture, Hepatic st...	OMIM:619503
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Azotemia, Hepatic steatosis, Abdominal obesity	OMIM:619321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Abnormal abdomen m...	OMIM:619475
Wiedemann-Rautenstrauch Syndrome	Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of finger, Congen...	ORPHA:3455
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99226
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormal he...	ORPHA:1606
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly	OMIM:243910
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Hyperlipidemia	ORPHA:1830
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Ascites, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Steinert Myotonic Dystrophy	Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hype...	ORPHA:273
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Cardiac-Urogenital Syndrome	Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, ...	OMIM:618280
Digeorge Syndrome	Cholelithiasis, Umbilical hernia, Tetralogy of Fallot, Obesity, Inguinal hernia, Hypocalcemia, He...	OMIM:188400
Wiedemann-Rautenstrauch Syndrome	Truncal ataxia, Hypertriglyceridemia	OMIM:264090
Alström Syndrome	Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Oligozoospermia, Hepatomegaly, Abnormal coronar...	ORPHA:64
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Sinus bradycar...	OMIM:142900
Woodhouse-Sakati Syndrome	Hyperlipidemia, Choreoathetosis	OMIM:241080
Hutchinson-Gilford Progeria Syndrome	Insulin resistance	ORPHA:740
Fabry Disease	Left ventricular hypertrophy, Hyperlipidemia, Abnormal circulating lipid concentration	ORPHA:324
Woodhouse-Sakati Syndrome	Hyperlipidemia, Choreoathetosis	ORPHA:3464
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia	ORPHA:293987
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:79318

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 Ppargc1b

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 Ppargc1b.

No publications found that use IMPC mice or data for Ppargc1b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ppargc1b^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppargc1b^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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