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:

PGC-1beta/ERRL1, 4631412G21Rik

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 (550 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	Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer...	OMIM:232700
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase	OMIM:306000
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom...	OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:619175
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration	OMIM:615238
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance	OMIM:125853
Encephalopathy, Progressive, With Or Without Lipodystrophy	Dystonia, Ataxia, Hepatomegaly, Hypertriglyceridemia, Hyperactivity	OMIM:615924
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegaly, Hypertriglyce...	OMIM:610717
Diabetes Mellitus, Ketosis-Prone	Diabetes mellitus, Insulin resistance, Beta-cell dysfunction	OMIM:612227
Fish-Eye Disease	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent...	OMIM:136120
Niemann-Pick Disease, Type B	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa...	OMIM:607616
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyce...	OMIM:612526
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ...	ORPHA:263458
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Azoospermia, Oligospermia, Hepatic steatosis, Hypertension, Hypertriglyceri...	OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Gait disturbance, Incre...	OMIM:616516
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ...	OMIM:619048
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S...	ORPHA:75234
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Lipoatrophy, Hypertension, Hepatic fibrosis, Hypertriglyceridemia, Loss of glu...	ORPHA:280356
Citrullinemia, Type Ii, Neonatal-Onset	Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia...	OMIM:605814
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria	Mitochondrial lysine transport defect	OMIM:238710
Hyperlipoproteinemia, Type Ii, And Deafness	Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:144300
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Congenital Disorder Of Glycosylation, Type Iip	Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,...	OMIM:616829
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia	OMIM:610947
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,...	ORPHA:411593
Cholesterol-Ester Transfer Protein Deficiency	Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot...	ORPHA:79506
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase	OMIM:606664
Citrullinemia, Type Ii, Adult-Onset	Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,...	OMIM:603471
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:603813
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Abnormal mitochondrial morpho...	OMIM:618528
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly	ORPHA:2274
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Abdominal obesity, El...	OMIM:615980
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splen...	OMIM:603552
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance, Elevated hepatic transaminase	OMIM:618400
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:144600
Combined Oxidative Phosphorylation Deficiency 46	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De...	OMIM:618952
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ...	OMIM:613027
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex IV, Abnormal mitochon...	OMIM:618378
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel...	ORPHA:79084
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance	ORPHA:140941
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Abnormal circulating acetylc...	ORPHA:71212
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce...	OMIM:207750
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Gait ataxia, Hepatic steatosis, Ataxia, Hepatomegaly, Hypertriglyceridemia, Limb dysto...	ORPHA:363400
Lcat Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly	ORPHA:650
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:278000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis...	ORPHA:209902
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Lipodystrophy, Hyperuricemia, Hypertension, Hypertriglyceridemia, L...	OMIM:604367
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Hyperlipidemia	ORPHA:79085
Atrial Standstill	Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal...	ORPHA:1344
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi...	OMIM:616201
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Sple...	OMIM:300635
Cholestasis-Lymphedema Syndrome	Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil...	OMIM:214900
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Flexion contracture, Atrial fibr...	OMIM:613327
Protoporphyria, Erythropoietic, 1	Hepatic failure, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis	OMIM:608600
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy	OMIM:615395
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated ...	OMIM:255120
Lipe-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Increased adipose tissue around t...	ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Loss of gluteal subcutaneou...	ORPHA:435651
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi...	OMIM:607765
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Cortisone Reductase Deficiency 2	Insulin resistance	OMIM:614662
Dna2-Related Mitochondrial Dna Deletion Syndrome	Elevated creatine kinase after exercise, Multiple joint contractures, Slender build, Decreased mi...	ORPHA:352470
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes mellitus	ORPHA:181393
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Gait ataxia, Hypertriglyceridemia, Dysmetria, Pancreatitis	OMIM:606721
Citrullinemia Type Ii	Hypercholesterolemia, Hypoproteinemia, Lethargy, Elevated hepatic transaminase, Hepatic steatosis...	ORPHA:247585
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation	OMIM:617280
Mitochondrial Complex I Deficiency, Nuclear Type 11	Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, Failure to thrive, Hype...	OMIM:618234
Ataxia With Vitamin 3 Deficiency	Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen...	OMIM:277460
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Insulin resistance	OMIM:617885
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Increased intraabdominal fat, Hepatic steatosis, Adipose tissue loss, Incre...	OMIM:151660
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Arrhythmia, Sick sinus syndrome, Bradycardia	OMIM:617182
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia	OMIM:601466
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Cirrhosis, Hepatic steatosis, Adipose tissue loss, Lipodystrophy, Hepatomeg...	ORPHA:528
Barth Syndrome	Arrhythmia, Congestive heart failure, Abnormal mitochondrial morphology, Failure to thrive, Dilat...	OMIM:302060
Liver Failure, Infantile, Transient	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperbilirubinemia, Acute hepati...	OMIM:613070
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp...	OMIM:619013
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis, Dystonia, Lethargy	ORPHA:26792
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Intellectual Developmental Disorder With Cardiac Arrhythmia	Arrhythmia, Sick sinus syndrome, Bradycardia	OMIM:617173
Combined Oxidative Phosphorylation Deficiency 52	Hyperglycinemia, Decreased activity of mitochondrial complex III, Hepatic steatosis, Decreased ac...	OMIM:619386
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Lethargy, Elevated hepatic transaminase, Hepatomegaly, Jaundice, I...	ORPHA:26793
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hypotension, Hepatic steatosis, Ventricular extrasystoles, Ventric...	OMIM:212138
Acquired Partial Lipodystrophy	Hepatic steatosis, Lipoatrophy	ORPHA:79087
Carnitine Deficiency, Systemic Primary	Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine...	OMIM:212140
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Truncal ataxia, Elevated hepatic transaminase...	ORPHA:369840
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Hepatomegaly, Hypertriglyceridemia, Co...	ORPHA:2348
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Bradycardia, Umbilical hernia	ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 19	Hepatic steatosis, Failure to thrive	OMIM:615595
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Flexion contracture, Hepatomegal...	OMIM:615381
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice...	OMIM:617156
Primary Lipodystrophy	Cirrhosis, Angina pectoris, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Hypertension, Congesti...	ORPHA:90970
Combined Oxidative Phosphorylation Deficiency 12	Decreased activity of mitochondrial complex III, Macrovesicular hepatic steatosis, Cholestasis, H...	OMIM:614924
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Elevated hepatic transaminase, Decreased liver function, Pulmonary art...	OMIM:616299
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology, Hypoglycemia	OMIM:300438
Immunodeficiency 47	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau...	OMIM:300972
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, H...	ORPHA:42
Chylomicron Retention Disease	Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H...	OMIM:246700
African Iron Overload	Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ...	ORPHA:139507
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest...	OMIM:614300
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive...	OMIM:618805
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp...	OMIM:238600
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,...	OMIM:301045
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatic steatosis, Lipoatrophy, Hyperuricemia, Hypertension, Hepatomegaly, Hypertrigly...	ORPHA:79083
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole...	ORPHA:567983
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy	OMIM:618815
Sinoatrial Node Dysfunction And Deafness	Bradycardia	OMIM:614896
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Cardiomyopathy	OMIM:615119
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate...	OMIM:251880
Tako-Tsubo Cardiomyopathy	Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog...	ORPHA:66529
Atrial Standstill 2	Palpitations, Atrial standstill, Atrial cardiomyopathy, Scarring, Hyperpepsinogenemia I, Atrial a...	OMIM:615745
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ...	OMIM:616828
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Ventricular arrhythmia, Minimal subcutaneous fat, Increased intraabdominal fat, Supraventricular ...	ORPHA:280365
Glycerol Kinase Deficiency	Hypertriglyceridemia, Lethargy	OMIM:307030
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Failure to thrive, Steatorrhea, Hypocholesterolemia	OMIM:266510
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive	OMIM:617093
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Decreased activity of mitochondrial complex IV, Increased mitochondrial number	OMIM:619063
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc...	ORPHA:369
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic steatosis, Failure to thrive, Hepatic failure	OMIM:617872
Tricarboxylic Acid Cycle, Defect Of	Decreased activity of the pyruvate dehydrogenase complex	OMIM:275370
Wild Type Attr Amyloidosis	Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hepatomegaly, Myoc...	ORPHA:330001
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir...	ORPHA:247598
Hemochromatosis Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi...	ORPHA:139491
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel...	ORPHA:370
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato...	ORPHA:71
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar...	OMIM:601419
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatic steatosis, Panniculitis, Abnormal circulating lipid concentration, Abnormal ca...	ORPHA:79086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Bradycardia, Ventricular tachycardia	OMIM:611938
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran...	ORPHA:98907
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Arrhythmia, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, D...	ORPHA:228305
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger, Atrioventricular block, Failure to thrive, Bra...	OMIM:614407
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kina...	OMIM:232400
Ddost-Cdg	Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Failure to thrive	ORPHA:300536
Dysbetalipoproteinemia	Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig...	ORPHA:412
Hyperlipoproteinemia, Type Id	Hepatomegaly, Hyperlipoproteinemia, Splenomegaly	OMIM:615947
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas...	OMIM:267700
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Flexion contracture, Bradycardia	OMIM:614498
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril...	OMIM:616117
Familial Short Qt Syndrome	Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ...	ORPHA:51083
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Abnormality of the mitochondrion, Failure to thrive, Cyanosis, Low-output congestive heart failur...	ORPHA:91130
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiome...	OMIM:600649
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly	OMIM:618398
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans	OMIM:618782
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia, Left ventricular hypertrophy	OMIM:614654
Cholestasis-Lymphedema Syndrome	Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,...	ORPHA:1414
Familial Chylomicronemia Syndrome	Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Hypertriglyceridemia, In...	ORPHA:444490
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Arrhythmia, Atrial fibrillation, Bradycardia	OMIM:614302
Fanconi-Bickel Syndrome	Hypophosphatemia, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concent...	ORPHA:2088
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased plasma carnitine, Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatic steato...	ORPHA:99901
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Dystonia, Elevated hepatic transaminase, Diffuse hepatic steatosis	OMIM:264470
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating...	OMIM:144250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased plasma carnitine, Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis...	OMIM:201475
Congenital Bile Acid Synthesis Defect Type 3	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B...	ORPHA:79302
Long Qt Syndrome 15	Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval	OMIM:616249
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Abnormal subcutaneous fat tissue distribution, ...	OMIM:212065
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Hypertrophic cardiomyopathy	OMIM:616276
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly	OMIM:201450
Squalene Synthase Deficiency	Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest...	OMIM:618156
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s...	ORPHA:264580
Mitochondrial Complex I Deficiency, Nuclear Type 37	Decreased activity of mitochondrial complex I, Inguinal hernia, Failure to thrive, Pulmonary arte...	OMIM:619272
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Large for gestational age, Bradycardia, Umbilical hernia	ORPHA:226313
Familial Thyroid Dyshormonogenesis	Umbilical hernia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abnormal circulating ...	ORPHA:95716
Progressive Familial Heart Block, Type Ib	Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f...	OMIM:604559
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia	OMIM:615863
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia	OMIM:616834
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Decreased...	OMIM:618620
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Infant Acute Respiratory Distress Syndrome	Hypotension, Tachycardia, Cardiac arrest, Hypoxemia, Cyanosis, Bradycardia	ORPHA:70587
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cerebral hemorrhage, Ascit...	OMIM:617397
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST...	ORPHA:263297
Brugada Syndrome	Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard...	ORPHA:130
Congenital Bile Acid Synthesis Defect Type 2	Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai...	ORPHA:79303
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia...	ORPHA:567548
Gracile Syndrome	Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati...	ORPHA:53693
Wilson Disease	Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu...	ORPHA:905
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Hyperactivity	OMIM:182290
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali...	OMIM:613313
Hyperinsulinism Due To Ucp2 Deficiency	Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Hepatomegaly, In...	ORPHA:276556
Glutamine Deficiency, Congenital	Hypoglutaminemia, Camptodactyly, Flexion contracture, Hyperammonemia, Bradycardia	OMIM:610015
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Hepatomegaly, In...	ORPHA:276575
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Elevate...	OMIM:603553
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasi...	OMIM:614921
Infantile Liver Failure Syndrome 1	Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to...	OMIM:615438
Infantile Liver Failure Syndrome 3	Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur...	OMIM:618641
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb...	OMIM:616278
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Elevated hepatic transaminase, Hepatomegaly, Jaundi...	ORPHA:540
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicu...	OMIM:256810
Analbuminemia	Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Lipodystrophy,...	OMIM:616000
Short Qt Syndrome 2	Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady...	OMIM:609621
Long Qt Syndrome 13	Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr...	OMIM:613485
Sepsis In Premature Infants	Hypotension, Decreased body weight, Hepatomegaly, Jaundice, Decreased liver function, Small for g...	ORPHA:90051
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance	ORPHA:90301
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Timothy Syndrome	Hypocalcemia, Prolonged QT interval, Cardiomegaly, Bradycardia	OMIM:601005
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine...	ORPHA:98855
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Hepatomegaly, Increased C-peptide level, Small for gestational age, Tachycardia, La...	ORPHA:324575
Sudden Cardiac Failure, Infantile	Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis	OMIM:617222
Coproporphyria, Hereditary	Hypertension, Hepatomegaly, Jaundice, Tachycardia, Splenomegaly	OMIM:121300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Elevated hepatic transaminase, Hyperlipidemia	ORPHA:2089
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue, Hepatic steatosi...	OMIM:608594
Romano-Ward Syndrome	Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S...	ORPHA:101016
Alstrom Syndrome	Elevated hepatic transaminase, Chronic active hepatitis, Hepatic steatosis, Hyperuricemia, Hepato...	OMIM:203800
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja...	OMIM:613812
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Lipodystrophy, Atrial fib...	ORPHA:300751
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De...	OMIM:500013
Griscelli Syndrome Type 1	Hyperlipidemia, Ataxia	ORPHA:79476
Biliary Atresia, Extrahepatic	Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe...	OMIM:210500
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Umbilical hernia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia,...	ORPHA:90674
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Antenatal intracerebral hemorrhage, Arrhythmia, Decreased plasma total...	OMIM:608836
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran...	ORPHA:101330
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure, Decreased...	OMIM:231530
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Arrhythmia, Decreased plasma total carnitine, Hepatic steatosis, Decreased plasma free carnitine,...	ORPHA:228308
X-Linked Emery-Dreifuss Muscular Dystrophy	Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine...	ORPHA:98853
Niemann-Pick Disease Type B	Cirrhosis, Abnormal circulating lipid concentration, Cholelithiasis, Neoplasm of the liver, Hepat...	ORPHA:77293
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue, Hepatic steatosi...	OMIM:269700
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Splenomegaly	OMIM:617591
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Increased C-peptide level, Tach...	ORPHA:276580
Salih Myopathy	Arrhythmia, Dilated cardiomyopathy, Mitochondrial depletion, Flexion contracture, Elevated circul...	OMIM:611705
Abetalipoproteinemia	Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hepatic steatosis, Hyperbilirubine...	ORPHA:14
Necrotizing Enterocolitis	Peritonitis, Hypotension, Hyponatremia, Small for gestational age, Ascites, Shock, Bradycardia	ORPHA:391673
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Congestive heart failure, Shortened PR interval, Ascites, Cardiomegaly, Cyanosis, Br...	OMIM:261740
Long Qt Syndrome 14	Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi...	OMIM:616247
Bile Acid Conjugation Defect 1	Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat...	OMIM:619232
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre...	ORPHA:98908
Potocki-Lupski Syndrome	Small for gestational age, Failure to thrive, Hypocholesterolemia	OMIM:610883
Hypermanganesemia With Dystonia 1	Cirrhosis, Increased total iron binding capacity, Dystonia, Elevated hepatic transaminase, Bradyk...	OMIM:613280
Trimethylaminuria	Tachycardia, Hypertension, Splenomegaly	OMIM:602079
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Decreased...	ORPHA:352447
Cardiomyopathy, Familial Hypertrophic, 6	Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ...	OMIM:600858
Seckel Syndrome 10	Glucose intolerance, Insulin resistance, Hepatic steatosis, Impaired glucose tolerance, Elevated ...	OMIM:617253
Incessant Infant Ventricular Tachycardia	Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard...	ORPHA:45453
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Sudden cardiac death, Congestive ...	OMIM:610198
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom...	OMIM:235555
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin...	OMIM:140400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia	OMIM:618810
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase concentration, Br...	OMIM:618775
19P13.12 Microdeletion Syndrome	Arrhythmia, Arthrogryposis multiplex congenita, Aortic regurgitation, Hepatic steatosis, Mitral r...	ORPHA:254346
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Hypermethioninemia, Myocardial infarction, Inguinal hernia, Pancreatitis, Fail...	OMIM:236200
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia	ORPHA:364
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia	ORPHA:542306
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Aapoaiv Amyloidosis	Cardiac conduction abnormality, Abnormal cardiac ventricular function, Elevated circulating creat...	ORPHA:439232
Cardiomyopathy, Dilated, 1E	Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra...	OMIM:601154
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Abnormal mitochondrial shape, Hypertrophic cardiomyopathy	OMIM:610773
Hypothyroidism Due To Tsh Receptor Mutations	Umbilical hernia, Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Neonata...	ORPHA:90673
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Corneal scarring, Flexion contracture, Tachycardia, Bradycardia	OMIM:614653
Cardiac Arrhythmia, Ankyrin-B-Related	Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope	OMIM:600919
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Hepatic steatosis, Hepatomegaly, Hepatic failure, Cyanosis	OMIM:261680
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen	OMIM:619313
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hypercholesterolemia, Fatal liver failure in infancy, Microvesicular hepatic steatos...	ORPHA:275761
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ataxia	OMIM:275630
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated hepatic transaminase, Abnormality of the mitochondrion, Macrovesicular hepati...	ORPHA:298
Sick Sinus Syndrome 1	Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad...	OMIM:608567
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p...	ORPHA:470
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Bradycardia, Cardiomyopathy	OMIM:609286
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Hepatic steatosis...	ORPHA:17
Tetanus	Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int...	OMIM:243300
Insulin-Resistance Syndrome Type B	Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli...	ORPHA:2298
Sick Sinus Syndrome 2	Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Left ve...	OMIM:163800
Congenitally Corrected Transposition Of The Great Arteries	Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ...	ORPHA:216694
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard...	OMIM:604772
Atrial Septal Defect, Sinus Venosus Type	Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr...	ORPHA:99105
Smith-Magenis Syndrome	Hypercholesterolemia, Gait disturbance, Hypertriglyceridemia, Attention deficit hyperactivity dis...	ORPHA:819
Complete Atrioventricular Septal Defect	Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov...	ORPHA:1329
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia...	OMIM:214950
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Cowden syndrome 3	Abnormality of mitochondrial metabolism	OMIM:615106
Progeria-Short Stature-Pigmented Nevi Syndrome	Lack of facial subcutaneous fat, Elevated hepatic transaminase, Supraventricular arrhythmia, Hepa...	ORPHA:2959
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c...	OMIM:604400
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato...	OMIM:211600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hepatic steatosis, Congestive heart failure, ...	ORPHA:52430
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate...	OMIM:616860
Neuroleptic Malignant Syndrome	Hypocalcemia, Arrhythmia, Elevated hepatic transaminase, Hypotension, Hypernatremia, Hyponatremia...	ORPHA:94093
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepat...	OMIM:616263
Cardiomyopathy, Familial Hypertrophic, 10	Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca...	OMIM:608758
Long Qt Syndrome 9	Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest	OMIM:611818
Autoimmune Hepatitis	Increased total bilirubin, Acute hepatitis, Cirrhosis, Spider hemangioma, Elevated hepatic transa...	ORPHA:2137
Interstitial Lung And Liver Disease	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver functi...	OMIM:615486
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Arrhythmia, Chronic hepatic failure, Failure to thrive in infancy, Cholestasis, Tri...	ORPHA:746
Pancreatic Agenesis 1	Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffic...	OMIM:260370
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic steatosis, Hepatomegaly, Jaundice, Elec...	OMIM:231680
Diarrhea 10, Protein-Losing Enteropathy Type	Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Ascites, Hypomagnesemia	OMIM:618183
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypocholesterolemia	ORPHA:31150
Carnitine-Acylcarnitine Translocase Deficiency	Decreased plasma carnitine, Arrhythmia, Elevated hepatic transaminase, Hypotension, Ventricular t...	ORPHA:159
Adrenomyodystrophy	Hepatic steatosis	OMIM:300270
Congenital Heart Defects, Multiple Types, 3	Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu...	OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v...	OMIM:611528
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatic steatosis, Hyperuricemia, Hepatomegaly, Neonatal hyperbili...	ORPHA:348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hypercholesterolemia, Increased hepatic glycogen content, Enlarged kidney, Hepatocel...	ORPHA:79259
Congenital Analbuminemia	Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,...	ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function, Lethargy	OMIM:614922
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:256840
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis, Lethargy	OMIM:210200
Peripartum Cardiomyopathy	Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca...	ORPHA:563
Peroxisome Biogenesis Disorder 2A (Zellweger)	Abnormality of the mitochondrion, Camptodactyly, Elevated circulating long chain fatty acid conce...	OMIM:214110
Combined Oxidative Phosphorylation Defect Type 39	Congenital foot contractures, Bradycardia	ORPHA:565624
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreased LDL cholesterol conce...	ORPHA:96180
Glossopharyngeal Neuralgia	Jaw claudication, Bradycardia, Weight loss, Syncope	ORPHA:221098
Visceral Steatosis, Congenital	Hypocalcemia, Lethargy, Hepatic steatosis, Jaundice, Neonatal death	OMIM:228100
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Insulin resistance	ORPHA:73272
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Cholelithiasis	OMIM:619273
Sclerosing Cholangitis, Neonatal	Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,...	OMIM:617394
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Inability to walk, Hypoproteinemia, Elevated hepati...	ORPHA:167
Crimean-Congo Hemorrhagic Fever	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic steatosis, Epistaxis, Jaundice	ORPHA:99827
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly	ORPHA:33402
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice	OMIM:605479
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Failure to thrive	OMIM:220111
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholest...	OMIM:613658
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive	ORPHA:977
Cardiomyopathy, Dilated, 1G	Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc...	OMIM:604145
Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty...	ORPHA:263455
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Inability to walk, Dystonia, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis...	OMIM:615356
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula...	OMIM:615441
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Palpitations, Atrioventricular block, Sinus bradycardia, Elevated circulating creatine kinase con...	OMIM:616812
Graft Versus Host Disease	Acute hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Lipodystrophy, Dupuytren cont...	ORPHA:39812
Hereditary Coproporphyria	Atypical scarring of skin, Hepatocellular carcinoma, Hyponatremia, Tachycardia, Abnormal circulat...	ORPHA:79273
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Increased body weight, Pancreatic islet-cell hyperplasia	ORPHA:276608
Placental Insufficiency	Insulin resistance	ORPHA:439167
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Abnormal...	OMIM:203700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista...	OMIM:262190
Proximal Spinal Muscular Atrophy	Flexion contracture, Multiple joint contractures, Knee flexion contracture, Elbow flexion contrac...	ORPHA:70
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen...	OMIM:602347
Mody	Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan...	ORPHA:552
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Hypertriglyceridemia	ORPHA:363618
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormality of the mitochondrion	ORPHA:330050
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Decreased circulating cortisol level, Hyponatremia, Bradyc...	ORPHA:91355
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
H Syndrome	Hypertriglyceridemia, Hepatosplenomegaly, Enlarged kidney	ORPHA:168569
Variegate Porphyria	Tachycardia	OMIM:176200
Familial Multiple Lipomatosis	Hyperlipidemia, Insulin resistance	ORPHA:199276
Bohring-Opitz Syndrome	Bilateral wrist flexion contracture, Congenital contracture, Cholelithiasis, Cardiomegaly, Severe...	ORPHA:97297
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Decreased serum ...	ORPHA:541423
Myopathy With Lactic Acidosis, Hereditary	Palpitations, Decreased activity of mitochondrial complex III, Decreased activity of mitochondria...	OMIM:255125
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circ...	ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Hepati...	OMIM:611126
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Syncope, Cardiac arrest, Ventricular tachycardia	OMIM:614916
Hydroxykynureninuria	Hypotension, Tachycardia	OMIM:236800
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormality of mitochondrial metabolism, Type I diabetes mellitus	ORPHA:1192
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Palpitations, Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Carnitine Palmitoyltransferase Ii Deficiency	Decreased plasma total carnitine, Decreased plasma free carnitine, Hepatomegaly, Hepatic calcific...	ORPHA:157
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Palpitations, Hypokalemia, Tachycardia, Weight loss	OMIM:188580
Alagille Syndrome 1	Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Reduced number of intrahepatic bi...	OMIM:118450
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Hep...	ORPHA:137675
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Flexion contracture, Macrovesicular hepatic steatosis, Hepatomegaly, Congestive ...	OMIM:617303
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Short Syndrome	Diabetes mellitus, Insulin resistance	ORPHA:3163
Catecholaminergic Polymorphic Ventricular Tachycardia	Sudden cardiac death, Syncope, Ventricular tachycardia	ORPHA:3286
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,...	ORPHA:769
Fructose Intolerance, Hereditary	Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic ...	OMIM:229600
Nephronophthisis 19	Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation	OMIM:616217
Monosomy 13Q34	Hematochezia, Hepatic steatosis, Epistaxis, Pulmonic stenosis, Infantile hypercalcemia, Obesity	ORPHA:96168
Atrial Fibrillation, Familial, 1	Tachycardia, Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 3	Tachycardia, Atrial fibrillation	OMIM:607554
Acquired Methemoglobinemia	Palpitations, Arrhythmia, Hypoxemia, Tachycardia, Cyanosis, Syncope	ORPHA:464453
Glycogen Storage Disease Ia	Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hyperurice...	OMIM:232200
Tropical Endomyocardial Fibrosis	Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Hypoalbumine...	ORPHA:75565
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Car T Cell Therapy-Associated Cytokine Release Syndrome	Reduced ejection fraction, Arrhythmia, Elevated hepatic transaminase, Hypotension, Elevated circu...	ORPHA:542323
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven...	OMIM:610193
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Arrhythmia, Umbilical hernia, Abnormality of mitochondrial metabolism, Hypertension, Inguinal her...	OMIM:614052
Pearson Syndrome	Hypophosphatemia, Hypocalcemia, Elevated hepatic transaminase, Exocrine pancreatic insufficiency,...	ORPHA:699
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia	OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio...	OMIM:607450
Whipple Disease	Hepatomegaly, Insulin resistance, Splenomegaly	ORPHA:3452
Cardiomyopathy, Familial Hypertrophic, 16	Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b...	OMIM:613838
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hypotension, Hyperuricemia, Weight loss, Acute pancreatitis, Hepat...	ORPHA:20
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Diffuse hepatic steatosis, Hepatomegaly, Decreased liver function, Failure to thrive, Hypertrophi...	ORPHA:436271
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia	OMIM:256300
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Elevated hemoglobin A1c, Macrovesicular hepatic steatosis, Hepatom...	OMIM:619127
Multiple Mitochondrial Dysfunctions Syndrome 3	Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita	OMIM:615330
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Glycogen Storage Disease Ib	Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hyperurice...	OMIM:232220
Isolated Biliary Atresia	Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, ...	ORPHA:30391
Reticular Dysgenesis	Abnormality of mitochondrial metabolism, Failure to thrive, Weight loss	ORPHA:33355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy...	OMIM:618920
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Congestive heart failure, Tachycardia, Splenomegaly	ORPHA:90037
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular fibrillation, Tachycardia, Syncope	OMIM:603829
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Left ventricular hypertrophy, Cardiomyopathy, Ventricular tachycardia	OMIM:613873
Porphyria Variegata	Elevated hepatic transaminase, Scarring, Hepatocellular carcinoma, Hyponatremia, Hypertension, Ta...	ORPHA:79473
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Elevated hepatic transaminase, Hypertriglyceridemia...	ORPHA:2442
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He...	OMIM:261515
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Hypoglycemia, Insulin resistance	ORPHA:230
Silver-Russell Syndrome	Recurrent hypoglycemia, Insulin resistance	ORPHA:813
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin resistance	ORPHA:90154
Sialuria	Elevated hepatic transaminase, Abnormality of the mitochondrion, Cholelithiasis, Hepatomegaly, He...	ORPHA:3166
Aromatase Deficiency	Hepatic steatosis, Hyperlipidemia, Enlarged polycystic ovaries	ORPHA:91
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Decrea...	OMIM:124000
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia	OMIM:244450
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypotrig...	ORPHA:404454
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Angina pectoris, Hepatic steatosis, Abnormal left ventricular function, Hyp...	ORPHA:391665
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Insulin resistance	OMIM:616541
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Insulin resistance	ORPHA:90153
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Failure to thrive	ORPHA:543470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Atrial Septal Defect, Ostium Secundum Type	Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Pulmonary arterial h...	ORPHA:99103
Dilated Cardiomyopathy With Ataxia	Dystonia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating g...	ORPHA:66634
Snakebite Envenomation	Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Myocardial infa...	ORPHA:449285
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	Prolonged neonatal jaundice, Overweight, Umbilical hernia, Bradycardia	ORPHA:226307
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Glycogen Storage Disease Ic	Xanthelasma, Chronic pancreatitis, Hepatocellular carcinoma, Hyperuricemia, Hepatomegaly, Hyperli...	OMIM:232240
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Increased hepatocellular lipid droplets, Hepatomegaly, Decreased liver function, Failure to thriv...	OMIM:220110
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Elevated hepatic transaminase, Cardiomyopathy	ORPHA:445038
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Bradycardia, Umbilical hernia	OMIM:218700
Hsd10 Disease, Infantile Type	Abnormality of mitochondrial metabolism, Cardiomegaly, Hyperammonemia, Cyanosis, Hypertrophic car...	ORPHA:391428
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Palpitations, Tachycardia, Oligospermia	OMIM:602668
Autosomal Dominant Progressive External Ophthalmoplegia	Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dilated cardiomyopat...	ORPHA:254892
Bacterial Toxic-Shock Syndrome	Peritonitis, Hypocalcemia, Cellulitis, Hypotension, Elevated circulating creatinine concentration...	ORPHA:36234
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactiv...	OMIM:256040
Werner Syndrome	Type II diabetes mellitus, Insulin resistance	ORPHA:902
Linear Skin Defects With Multiple Congenital Anomalies 3	Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car...	OMIM:300952
Friedreich Ataxia	Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity	OMIM:229300
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hyperlipidemia	ORPHA:35909
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Contractures of the interphalangeal joint of the thumb, Hypertension	OMIM:613870
Relapsing Fever	Increased total bilirubin, Elevated hepatic transaminase, Hypotension, Elevated circulating creat...	ORPHA:91547
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper...	OMIM:145600
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Tachycardia	OMIM:221400
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia	OMIM:611878
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge...	OMIM:171420
Double Outlet Right Ventricle	Hypocalcemia, Pulmonic stenosis, Heart murmur, Tachycardia, Failure to thrive, Cyanosis	ORPHA:3426
Congenital Fibrinogen Deficiency	Splenic rupture, Internal hemorrhage, Tachycardia, Right ventricular hypertrophy, Left ventricula...	ORPHA:335
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Inguinal hernia, Bradycardia, Congenital diaphragmatic hernia	OMIM:614437
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Bradycardia, Paroxysmal supraventricular tachycardia	OMIM:601375
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Ventricular extrasystoles, Tachycardia, Syncope	OMIM:192445
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Insulin resistance, Primary hyperaldosteronism, Type I di...	ORPHA:358
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia	OMIM:270400
Mirizzi Syndrome	Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Hyperbilirubinemi...	ORPHA:521219
Leprechaunism	Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos...	ORPHA:508
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Abnormal blood ion concentration, Failure to thrive, Dilated cardiomyopathy, B...	ORPHA:79404
Malignant Hyperthermia Of Anesthesia	Hypercapnia, Ventricular extrasystoles, Acute hepatic failure, Ventricular tachycardia, Elevated ...	ORPHA:423
Atypical Werner Syndrome	Chondrocalcinosis, Hepatic steatosis, Lipoatrophy, Decreased body weight, Telangiectasia of the s...	ORPHA:79474
Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Splenomegaly, Elevated circulating creatine kinase concentration, Hyp...	ORPHA:565612
Eisenmenger Syndrome	Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p...	ORPHA:97214
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Congestive heart failure, Tachycardia, Splenomegaly	ORPHA:90033
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Fasting hypoglycemia, Insulin resistance	ORPHA:96182
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Ataxia, Hepatomegaly	OMIM:243910
Bloom Syndrome	Diabetes mellitus, Azoospermia, Insulin resistance, Oligospermia	ORPHA:125
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormality of mitochondrial metabolism, Failure to thrive	ORPHA:88639
Gitelman Syndrome	Palpitations, Chondrocalcinosis, Hypotension, Increased circulating renin level, Ventricular tach...	OMIM:263800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Hyperuricemia, Jaundice, Abnormality of exocrin...	ORPHA:93111
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Turner Syndrome Due To Structural X Chromosome Anomalies	Cirrhosis, Elevated hepatic transaminase, Atypical scarring of skin, Hepatic steatosis, Biliary c...	ORPHA:99413
Turner Syndrome	Cirrhosis, Elevated hepatic transaminase, Atypical scarring of skin, Hepatic steatosis, Biliary c...	ORPHA:881
Mosaic Monosomy X	Cirrhosis, Elevated hepatic transaminase, Atypical scarring of skin, Hepatic steatosis, Biliary c...	ORPHA:99228
Monosomy X	Cirrhosis, Elevated hepatic transaminase, Atypical scarring of skin, Hepatic steatosis, Biliary c...	ORPHA:99226
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia	OMIM:229700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Flexion contracture, Tricuspid regurgitation, Congestive heart failure, Hernia, ...	ORPHA:505248
16P12.1P12.3 Triplication Syndrome	Abnormality of the intrahepatic bile duct, Tachycardia, Failure to thrive	ORPHA:485405
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,...	ORPHA:368
Scorpion Envenomation	Cardiogenic shock, Increased circulating creatine kinase MB isoform, Bundle branch block, Cardiac...	ORPHA:466677
Short Qt Syndrome 3	Shortened QT interval, Palpitations, Tachycardia	OMIM:609622
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Paragangliomas 3	Palpitations, Tachycardia, Hypertension associated with pheochromocytoma	OMIM:605373
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia	ORPHA:79264
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation	OMIM:261990
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism	ORPHA:31
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Weight loss, Hepatomegaly, Tachycardia, Splenomegaly, Syncope	ORPHA:98849
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Tachycardia, Syncope	OMIM:615821
Ethylene Glycol Poisoning	Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard...	ORPHA:31826
Granulomatous Disease, Chronic, X-Linked	Cellulitis, Hepatomegaly, Splenomegaly, Deficiency or absence of cytochrome b(-245), Liver abscess	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Cellulitis, Hepatomegaly, Splenomegaly, Deficiency or absence of cytochrome b(-245), Liver abscess	OMIM:233690
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Truncal ataxia	OMIM:264090
Paragangliomas 1	Palpitations, Tachycardia, Hypertension associated with pheochromocytoma	OMIM:168000
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Hydroxykynureninuria	Hypotension, Tachycardia, Abnormal circulating tryptophan concentration	ORPHA:79155
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hepatic steatosis, Flexion contracture, Azotemia, Abdominal obesity	OMIM:619321
Steinert Myotonic Dystrophy	Hypercholesterolemia, Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Cholel...	ORPHA:273
Familial Dysautonomia	Acrocyanosis, Orthostatic hypotension, Abnormality of the peritoneum, Hyponatremia, Hypertension,...	ORPHA:1764
Malignant Hyperthermia, Susceptibility To, 5	Hypercapnia, Tachycardia	OMIM:601887
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Tachycardia	ORPHA:90036
Mandibuloacral Dysplasia With Type B Lipodystrophy

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