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

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
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