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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... OMIM:232700
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Hepatomegaly OMIM:615924
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Incre... OMIM:616516
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Hy... ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperuricemia, H... OMIM:306000
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Hypertension, Hepatic steatosis OMIM:613877
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Failure to thrive, Abnormal mitochondrial morphology, Decreased a... OMIM:618378
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Increased C-peptide level OMIM:615238
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:618952
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... OMIM:613027
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,... ORPHA:1344
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Acute hepatic failure, Hyperammonemia, Increa... ORPHA:71212
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Hepatic failure, Stea... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Decreased body weight, Pulmonic stenosis, Mitral regurgitation, Sick sinus syn... OMIM:616201
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... OMIM:300635
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly OMIM:609016
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis ORPHA:79085
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate amin... OMIM:615558
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:255120
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Decr... OMIM:604367
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus ORPHA:181393
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Gait ataxia, Hepatic steatosis ORPHA:363400
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hypertri... ORPHA:435651
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Multiple joint contractures, Slender build, Decreased mi... ORPHA:352470
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia OMIM:617885
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, C... OMIM:618234
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... OMIM:619013
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Tachycardia, Elevated circula... OMIM:613327
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circula... OMIM:212138
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase... ORPHA:26793
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatomegaly, Cirrhosis, Increased C-peptide level, Hypertriglyceridemia, Lipo... ORPHA:528
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholesterol concent... OMIM:615947
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hepatomegaly, Loss... OMIM:151660
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:619386
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystroph... ORPHA:90970
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... OMIM:617156
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Acquired Partial Lipodystrophy
Lipoatrophy, Hepatic steatosis ORPHA:79087
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... OMIM:616299
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ... OMIM:212140
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Truncal ataxia, Abnormal circulating creatine kinase concentration, Elevated hepati... ORPHA:369840
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Elevated hepatic transaminase, Lipodystr... OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Hypertriglyceridemia, Lipodyst... ORPHA:2348
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia, Umbilical hernia, Prolonged neonatal jaundice ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Elevated transferrin satur... OMIM:606069
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Decreased activit... OMIM:614924
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Dysdia... OMIM:277460
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Lethargy ORPHA:26792
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, ... OMIM:614300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Loss of s... ORPHA:79083
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Atrial Standstill 2
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Decreased activity of the pyruvate dehydrogenase complex, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy OMIM:618815
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... ORPHA:567983
Glycerol Kinase Deficiency
Hypertriglyceridemia, Lethargy OMIM:307030
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Increased adipose tissue around... ORPHA:280365
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration,... ORPHA:98907
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Splenomegaly... OMIM:267700
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis ORPHA:300536
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:370
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Joint contracture of the 5th finger, Acrocyanosis, Atrioventricular block, Bra... OMIM:614407
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystrophy, Acu... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis, Neonatal death OMIM:615918
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... ORPHA:71
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased circulati... ORPHA:444490
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly OMIM:618398
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Bradycardia OMIM:614498
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Left ventricular hypertrophy, Bradycardia OMIM:614654
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula... ORPHA:228305
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis, Low-output congestive heart failure, Abnormality of the mitochondrio... ORPHA:91130
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis ORPHA:209919
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Acute... ORPHA:99901
Fanconi-Bickel Syndrome
Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Hepatocellul... ORPHA:2088
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Inguinal hernia, Decreased activity of mitochondrial complex I, Pulmonary arte... OMIM:619272
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Lethargy OMIM:201450
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased... OMIM:618620
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Syncope, Atrial fibrillat... OMIM:163800
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Hepato... ORPHA:264580
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Decreased activity of mitochondrial complex IV, Hype... ORPHA:70472
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Bradycardia, Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Sudden cardiac death,... OMIM:201475
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Umbilical hernia, Prolonged neonatal jaundice, Neonatal... ORPHA:95716
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Palpitations, Arrhythmia, ST segment elevation, T-wave inversion,... ORPHA:263297
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachycardia, Hypotension, Hypoxemia, Cardiac arrest, Bradycardia ORPHA:70587
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Splenomegaly... OMIM:603553
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat... ORPHA:79303
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Glutamine Deficiency, Congenital
Flexion contracture, Hyperammonemia, Camptodactyly, Hypoglutaminemia, Bradycardia OMIM:610015
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Lethargy ORPHA:156
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Elevated hepatic transaminase,... OMIM:212065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:79240
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... ORPHA:905
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Increased circulating brain natriuretic pepti... OMIM:601494
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Barth Syndrome
Failure to thrive, Tricuspid regurgitation, Arrhythmia, Abnormal mitochondrial morphology, Increa... OMIM:302060
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... OMIM:616278
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Timothy Syndrome
Hypocalcemia, Prolonged QT interval, Cardiomegaly, Bradycardia OMIM:601005
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Ataxia, Hypoalbuminemia OMIM:617575
Sepsis In Premature Infants
Decreased liver function, Decreased body weight, Hepatomegaly, Elevated circulating C-reactive pr... ORPHA:90051
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:98855
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Lethargy ORPHA:2089
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Griscelli Syndrome Type 1
Ataxia, Hyperlipidemia ORPHA:79476
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... OMIM:256810
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... OMIM:500013
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglycerid... OMIM:203800
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Seckel Syndrome 10
Glucose intolerance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, I... OMIM:617253
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... OMIM:613070
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:98863
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Umbilic... ORPHA:90674
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:98853
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:617591
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Palpitations, Tach... ORPHA:276556
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Dilated cardiomyopath... OMIM:231530
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hepatomegaly, Splenom... OMIM:608594
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Splenomegaly, Hyperproteinemi... ORPHA:158048
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Elevated hepatic transaminas... OMIM:613812
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Persistent fetal circulation, Small for gestational age, Elevated circulating cre... OMIM:618775
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Corneal scarring, Viral hepatitis, Periportal fibro... ORPHA:101330
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hypotension, Shortened PR interval, Bradycardia, Ascites, Cardiomyopathy, Cardiomegaly,... OMIM:261740
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Palpitations, Tach... ORPHA:276575
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Hypotension, Shock, Hyponatremia, Ascites, Bradycardia ORPHA:391673
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hy... ORPHA:189427
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen OMIM:619313
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Sudden cardiac death, Elevat... OMIM:614921
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Elevated circulating alanine amin... OMIM:261680
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Dilated cardiomyopathy, Noncompaction car... OMIM:610198
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration, Decreased... ORPHA:352447
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Sple... OMIM:300972
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... ORPHA:439232
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hepatomegaly, Splenom... OMIM:269700
Dpm1-Cdg
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent... ORPHA:79322
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Mitral regurgitation, Arrhythmia, Aortic regurgitation, Arthrogryposis multiplex ... ORPHA:254346
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hy... ORPHA:189439
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Elevated hepatic transaminase, Ascites, Bradycardia OMIM:617397
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Myocar... OMIM:236200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia ORPHA:542306
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, At... ORPHA:77293
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Increased C-peptide level, Palpitations, Tachycardia, Sy... ORPHA:324575
Lysosomal Acid Lipase Deficiency
Decreased liver function, Microvesicular hepatic steatosis, Hepatic failure, Steatorrhea, Hepatos... ORPHA:275761
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Steatorrhea, Elevated hepatic tr... OMIM:235555
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia, Elevated circulating alanine aminotransferase conc... OMIM:277700
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Abnormality... ORPHA:298
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:619802
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Umbilical hernia, Prolonged neonatal jaundice, Neonata... ORPHA:90673
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Steatorrhea, Hepatic fa... ORPHA:470
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating... OMIM:615486
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreat... OMIM:619487
Chanarin-Dorfman Syndrome
Ataxia, Hepatic steatosis, Hepatomegaly OMIM:275630
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hepatomegaly, Flexion contracture, Abnormal mitochondrial shape, Elevated hepa... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia, Decreased activity of mitoch... OMIM:616672
Tetanus
Hypertension, Tachycardia, Elevated circulating creatine kinase concentration, Bradycardia ORPHA:3299
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Palpitations, Tach... ORPHA:276580
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Smith-Magenis Syndrome
Gait disturbance, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Ascites OMIM:618183
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Failure to thrive, Bradycardia OMIM:220120
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Dilated cardiom... OMIM:611126
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Supraventricular arrhythmia, Small for ges... ORPHA:2959
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Elevated hepatic transamina... ORPHA:79324
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Elevated ... ORPHA:94093
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hepatic f... OMIM:616263
Congenital Analbuminemia
Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Small for gestational age, Increased alpha-g... ORPHA:86816
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Cardiomyopathy, Congestive... ORPHA:52430
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular ca... ORPHA:79259
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Left ventricular hypertrophy, Hepatosplenomegaly ORPHA:31150
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Hyperuricemia, Neonatal hyperbilirubine... ORPHA:348
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Arrhyt... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly, Lethargy OMIM:614922
Placental Insufficiency
Insulin resistance ORPHA:439167
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Hepatomegaly, Abnormal P wave, Left-to-right sh... ORPHA:1329
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Elevated... OMIM:231680
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Small... ORPHA:860
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased liver function, Ataxia, Inability to walk... ORPHA:167
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Cimdag Syndrome
Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Bradycardia ORPHA:565624
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance ORPHA:73272
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Hepatomegaly, Subdural hemorrhage, Hepatic failure, Hemothorax, Myocardit... ORPHA:99827
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... OMIM:203700
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:619518
Visceral Steatosis, Congenital
Hypocalcemia, Jaundice, Neonatal death, Hepatic steatosis, Lethargy OMIM:228100
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Glossopharyngeal Neuralgia
Jaw claudication, Weight loss, Bradycardia, Syncope ORPHA:221098
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Hepatomegaly, Joint contracture of the hand, Jaundice, Elevated circulating lo... OMIM:214110
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure... OMIM:619573
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Flexion contracture, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... ORPHA:70
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Reduced circulating transferrin concentration, Secondary hyperaldosteronism,... ORPHA:90363
Wilson Disease
Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Sp... OMIM:277900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Elevated circulating creatine kinase concentration, Syncope, Second degree atrioven... OMIM:616812
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Lethargy OMIM:210200
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia ORPHA:363618
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
H Syndrome
Hypertriglyceridemia, Hepatosplenomegaly, Enlarged kidney ORPHA:168569
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Myocarditis, Hypotens... ORPHA:319213
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, ... OMIM:619377
Sheehan Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Palpitations, Hyponatremia, Obesit... ORPHA:91355
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Inability to walk, Hepatomegaly, Elevated circulating creatine kinase concentration, Athe... OMIM:615356
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Severe failure to thrive, Bilateral wrist flexion contracture, ... ORPHA:97297
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Abnormality of mitochondrial metabolism ORPHA:1192
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Flexion contracture, Splenomegaly, Macrovesicular hepatic steatosis, Enlarged kidne... OMIM:617303
Monosomy 13Q34
Pulmonic stenosis, Hematochezia, Obesity, Infantile hypercalcemia, Hepatic steatosis, Epistaxis ORPHA:96168
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Prolonged neonatal jaundice, Hepatic failure, Cirrhosis, Hepat... OMIM:118450
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Diabetic ketoacidosis, Impaired glucose tolerance... ORPHA:769
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty-acid concentration, Increased ... ORPHA:263455
Whipple Disease
Insulin resistance, Hepatomegaly, Splenomegaly ORPHA:3452
Graft Versus Host Disease
Failure to thrive, Hyperbilirubinemia, Dupuytren contracture, Chronic hepatitis, Hepatosplenomega... ORPHA:39812
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Elevated hemoglobin A1c, Left ventricular hypertrophy, Macrovesicular hepatic steat... OMIM:619127
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, S... ORPHA:699
Marburg Hemorrhagic Fever
Hypokalemia, Pancreatitis, Hyperammonemia, Hypovolemia, Tachycardia, Elevated circulating creatin... ORPHA:99826
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated h... OMIM:232200
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Hyperbilirubinemia, Pancreatic hyperplasia, Elevated ci... ORPHA:99829
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Elevated hepatic t... OMIM:618329
Reticular Dysgenesis
Failure to thrive, Weight loss, Abnormality of mitochondrial metabolism ORPHA:33355
D-Bifunctional Protein Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile d... OMIM:261515
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Elevated carcinoembryonic antigen level, Hypoxemia, Abnormal circulating protein con... ORPHA:264675
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Hypotension, Acu... ORPHA:20
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Failure to thrive, Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis, Hypertrophi... ORPHA:436271
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Spleno... OMIM:270400
Fructose Intolerance, Hereditary
Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transam... OMIM:229600
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Inguinal hernia, Small ... OMIM:613658
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased liver function, Splenomegaly, Hepatic fai... ORPHA:2442
Sialuria
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Abnormality of t... ORPHA:3166
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Flexion contracture, Congestive heart failure OMIM:616271
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Werner Syndrome
Insulin resistance, Type II diabetes mellitus ORPHA:902
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Hepatomegaly, Cy... ORPHA:137675
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90154
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Palpitations, Tachycardia, Hypokalemia OMIM:188580
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Eleva... OMIM:124000
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus OMIM:616541
Aromatase Deficiency
Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis ORPHA:91
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, He... ORPHA:404454
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Bradycardia OMIM:218700
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... ORPHA:391665
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Cardiomyopathy ORPHA:445038
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Bradycardia, Umbilical hernia, Prolonged neonatal jaundice ORPHA:226307
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Biliary tract abnormality, Diabetes mellitus OMIM:209900
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Hematemesis, Splenomegaly, Vasculitis... OMIM:615846
Encephalitis Lethargica
Bradycardia ORPHA:83600
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Elevated hepa... ORPHA:66634
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Decreased HDL ... OMIM:256040
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Left ventricular hypertrophy, Palpitations, Elevated circulating creatine kina... ORPHA:254892
Hsd10 Disease, Infantile Type
Hyperammonemia, Cyanosis, Hypertrophic cardiomyopathy, Abnormality of mitochondrial metabolism, C... ORPHA:391428
Lipodystrophy, Familial Partial, Type 7
Dysmetria, Dysdiadochokinesis, Hypertriglyceridemia, Gait ataxia, Recurrent pancreatitis, Hyperch... OMIM:606721
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Hepatomegaly, Inguinal hernia, Splenomegaly, Elevated circulating aspartate am... OMIM:619525
Atypical Werner Syndrome
Telangiectasia of the skin, Failure to thrive, Decreased body weight, Aortic valve stenosis, Lipo... ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Hepatomegaly, Increased hepatocellular lipid droplet... OMIM:220110
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Congenital diaphragmatic hernia, Inguinal hernia, Bradycardia OMIM:614437
Gitelman Syndrome
Neoplasm of the pancreas, Glucose intolerance, Type II diabetes mellitus, Diabetic ketoacidosis, ... ORPHA:358
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase co... ORPHA:565612
Severe Generalized Junctional Epidermolysis Bullosa
Failure to thrive, Enamel hypoplasia, Abnormal blood ion concentration, Dilated cardiomyopathy, B... ORPHA:79404
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Fasting hypoglyce... ORPHA:508
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Small for gestational age, Elevated hemo... OMIM:210900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance ORPHA:96182
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Bloom Syndrome
Insulin resistance, Azoospermia, Oligospermia, Diabetes mellitus ORPHA:125
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Microvesicular h... OMIM:300855
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Hepat... OMIM:618278
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia OMIM:243910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Microvesicular hepatic steatosis, Hepatomegaly, Flexion contracture, Cirrhosis, ... OMIM:300868
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Eleva... ORPHA:93111
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... ORPHA:99226
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Azotemia, Hepatic steatosis, Flexion contracture OMIM:619321
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:248370
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Hyperbilirubinemia, Tachycardia, Elevated hepatic transam... ORPHA:521219
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Abnormal abdomen morphology, Decreased body weight, Jaundice, Hyperbilirubinem... OMIM:619475
Rh Deficiency Syndrome
Hyperbilirubinemia, Hepatosplenomegaly, Tachycardia, Reduced haptoglobin level, Hypoxemia, Jaundice ORPHA:71275
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Elevated hepatic transaminase, Diabetes mellitus, Insulin resis... ORPHA:273
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Slender build, Failure to thrive, Lipoatrophy, Pulmonic sten... ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Dilated ... ORPHA:1606
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia, Ascites ORPHA:567546
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Truncal ataxia OMIM:264090
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Hypomagnesemia, Hypocalcemia, Failure to th... OMIM:619503
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Friedreich Ataxia 2
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced OMIM:601992
Digeorge Syndrome
Cholelithiasis, Hypocalcemia, Inguinal hernia, Splenomegaly, Femoral hernia, Umbilical hernia, Ob... OMIM:188400
Alström Syndrome
Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Dorsocervical fat pad, Sp... ORPHA:64
Friedreich Ataxia And Congenital Glaucoma
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced OMIM:229310
Hutchinson-Gilford Progeria Syndrome
Insulin resistance ORPHA:740
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia OMIM:241080
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatomegaly, Hepatic failure ORPHA:255210
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia ORPHA:3464
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyperlipidemia, Hyponatremia ORPHA:293987
Pmm2-Cdg
Hyperinsulinemia, Elevated hepatic transaminase, Hepatic fibrosis, Insulin resistance, Abnormal l... 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.

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MGI Allele Allele Type Produced
Ppargc1btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ppargc1btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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