Gene: Pex1 MGI:1918632

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Gene Summary

Name:
peroxisomal biogenesis factor 1
Synonyms:
ZWS1,  5430414H02Rik,  E330005K07Rik,  peroxisome biogenesis factor 1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
dilated heart left ventricle Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 2.20×10-07
decreased heart rate Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 2.51×10-08
abnormal liver morphology Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 0.00
decreased cardiac muscle contractility Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 1.03×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Pex1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pex1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pex1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Hyper... OMIM:613027
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Elevated hepatic transa... ORPHA:369
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
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
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Postnatal growth retardation, Hyperlipidemia... OMIM:232700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Proportionate short stature, Mildly elevated creatine kinase, Abno... ORPHA:71212
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Pr... ORPHA:30391
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Short stature, Eleva... OMIM:232400
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Abnormal localization of kidney, Prol... ORPHA:446
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Dilated cardiomyopathy, Hepatic steatosis, Hypoketotic hypoglycemia, Growt... OMIM:231530
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pate... OMIM:208540
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... OMIM:607361
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cerebral... OMIM:203700
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hypertension, Polycystic ovaries, Hepatic fibrosis, Hypertri... ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Chronic kidney disease, Ab... OMIM:602114
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Severe short-limb dwarfism, Hypertriglyceridemia, Retinal detachment ORPHA:436182
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis... OMIM:201475
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Growth delay, Hypoglycemia, Hepatomegaly, Hy... OMIM:306000
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Ab... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 1
Decreased activity of mitochondrial complex III, Cholestasis, Hepatomegaly, Decreased activity of... OMIM:609060
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Patent ductus arteriosus, Cholestasis, Multicystic kidney dy... OMIM:267010
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Hepatic steatosis, Proximal tubulopathy, Generalized ami... OMIM:231680
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Growth delay, Cholestasis OMIM:609313
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema, Porphyrinuria OMIM:176090
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:370
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Postnatal growth ... OMIM:617093
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Patent ductus arteriosus, Cholestasis, Hepatic fibrosis, Pulmo... OMIM:615382
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Increased circulating ferritin concentra... OMIM:300635
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
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hyperuricemia, Insulin-resista... OMIM:604367
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, D... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:614582
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Cardiomyopathy OMIM:609016
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypertension, Hepat... OMIM:619111
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:610688
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease, Renal cyst OMIM:612284
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:264580
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Hypercalciuria, Hepatic failure, Elevated circulating aspartate amino... ORPHA:2088
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Cholestasi... OMIM:603358
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia ORPHA:306550
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemi... OMIM:208500
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chro... ORPHA:3156
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fib... OMIM:615415
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis,... OMIM:615630
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Cholestasis, Hepatic fibrosis, Hepatomegaly, Renal dysplasia, Rena... OMIM:266920
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Growth ... OMIM:613658
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Short statu... OMIM:610717
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa... OMIM:602579
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Neoplasm, Short stature, Splenomegaly ORPHA:172
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lacticaciduria, Arrhythmia, Elevated hepatic transaminase, Glutaric a... ORPHA:26791
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:603194
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Pos... OMIM:246200
Retinitis Pigmentosa 59
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Ren... OMIM:613861
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Hypertension, Cholestasis, Hepatomegaly, Nephropathy, Nephrotic syndrome, S... OMIM:105200
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Duplicated collectin... ORPHA:541423
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Short stature OMIM:261750
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated hepatic transaminase, Hypotension, Hepatic steatosis, Ventricul... OMIM:212138
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Type II diabetes mellitus ORPHA:79095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Carcinoid Syndrome
Palpitations, Intestinal carcinoid, Right ventricular failure, Elevated hepatic transaminase, Aty... ORPHA:100093
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Rft1-Cdg
Hepatomegaly, Short stature ORPHA:244310
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Growth d... OMIM:216360
Primary Sclerosing Cholangitis
Thyroiditis, Jaundice, Palmar telangiectasia, Hypoalbuminemia, Renal insufficiency, Dilated super... ORPHA:171
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Decreased liver function, Bradycardia, Elevated hepatic transami... OMIM:616299
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Hypoplasia of penis, Shor... ORPHA:2377
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly OMIM:619175
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:611134
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex III, Macrovesicular hepatic steatosis, Cholestasis, H... OMIM:614924
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Meckel Syndrome, Type 5
Bile duct proliferation, Abnormality of the urinary system OMIM:611561
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Cranioectodermal Dysplasia 2
Renal insufficiency, Elevated hepatic transaminase, Rhizomelia, Polysplenia, Biliary cirrhosis, P... OMIM:613610
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic li... ORPHA:1414
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Shor... ORPHA:2089
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia, Hepatic failure ORPHA:79319
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage 5 chronic ki... OMIM:616629
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Renal insufficiency, Postprandial hyperglycemia, Steatorrhea, C... ORPHA:440713
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, Re... ORPHA:101330
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis OMIM:234350
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cerebral atrophy, Hypermethioninemia, Hyperbili... OMIM:614300
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Abnormal enzyme/coenzyme ... ORPHA:570422
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Short ... OMIM:612526
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Abnormality of iron homeosta... ORPHA:465508
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase, Decreased dist... OMIM:618400
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Elevated circulating ... OMIM:614921
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Increased hepatocellular lipid dr... ORPHA:71
Lambert Syndrome
Intrauterine growth retardation, Cholestasis, Jaundice, Intrahepatic biliary atresia, Hypospadias ORPHA:1296
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Hepatomegaly, Hypertriglyceridemia, Short stature, Spl... OMIM:607616
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Interstitial p... ORPHA:449395
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Coarctation of aorta, Patent ductus arteriosus, Hepatic fibros... OMIM:606003
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauter... ORPHA:26792
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Pneumonia, Abnormal circulating lipid concentration, Ho... ORPHA:2298
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Growth delay, Hyperbilirubinemia, Hype... OMIM:605814
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of the urinary system, Intra... ORPHA:99886
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine growth retardation, Hyp... OMIM:613370
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Cholestasis, Renal tubular atrophy, Tub... OMIM:615862
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Pituitary hypothyroidism, Decreased respon... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Pituitary hypothyroidism, Decreased respon... ORPHA:71526
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephropathy, ... OMIM:613404
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Hypersplenism, Abnormality of the kidney, Cirrho... ORPHA:480520
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis, Intrauterine growth retardation OMIM:614602
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Spider hemangioma, Increased tot... ORPHA:2137
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypotension, Decreased circulating cortisol level, ... ORPHA:199296
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Intrauterine growth retardation ORPHA:1980
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Orthostatic hypotension, Hepatocellular carcinoma, Bili... ORPHA:186
Meckel Syndrome, Type 1
Cryptorchidism, Elevated amniotic fluid alpha-fetoprotein, Accessory spleen, Hypoplasia of the bl... OMIM:249000
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen ovale, Tetralogy o... OMIM:601005
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hyp... OMIM:615710
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Adams-Oliver Syndrome 6
Truncus arteriosus, Renal hypoplasia, Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension OMIM:616589
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Hepatomegaly, Myocardial infarc... ORPHA:330001
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Gastrointestinal hemorrhage, Proteinuria, Viral hepatitis, Glomer... ORPHA:91138
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia, Decreased response to growth hormone stimuation test, ... OMIM:609734
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Chronic diarrhea, Cholelithia... ORPHA:65682
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Arteriosclerosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Prolonged prothrombin time, Hepatic steatosis, Proximal tubulopath... OMIM:212065
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Budd-Chiari syndrome, Neoplasm, Jaundice, Hype... ORPHA:88673
Trimethylaminuria
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Hypertrop... ORPHA:848
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Elevated circu... OMIM:615895
Alstrom Syndrome
Hyperuricemia, Renal insufficiency, Otitis media, Tubulointerstitial nephritis, Recurrent pneumon... OMIM:203800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephropathy, ... OMIM:208085
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Dominant Beta-Thalassemia
Cirrhosis, Arrhythmia, Abnormality of iron homeostasis, Hepatocellular carcinoma, Growth delay, H... ORPHA:231226
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Hepatic steatosis, Imp... OMIM:212140
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Macrovesicular hepatic steatosis, Cardiomegaly, Renal insufficiency, U... OMIM:608836
Immunodeficiency 59 And Hypoglycemia
Arteritis, Stomatitis, Hepatomegaly, Encephalitis, Short stature, Acne inversa, Recurrent skin in... OMIM:233600
Adult-Onset Still Disease
Skin rash, Elevated hepatic transaminase, Pericarditis, Abnormal circulating lipid concentration,... ORPHA:829
Dysmyelination With Jaundice
Cryptorchidism, Hydroureter, Jaundice, Hydronephrosis, Hypoplasia of penis OMIM:224250
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Retinopathy, Failure to thrive OMIM:618234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media OMIM:608971
Bardet-Biedl Syndrome
Cryptorchidism, Hypertension, Multicystic kidney dysplasia, Hepatic fibrosis, Nephrotic syndrome,... ORPHA:110
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent otitis media, Recurrent urinary tract infections, Splenomegaly OMIM:618495
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Cholestasis, Jaundice, Adrenocorticot... OMIM:201400
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Griscelli Syndrome
Abnormal circulating lipid concentration, Hepatomegaly, Jaundice, Hepatitis, Ascites, Short statu... ORPHA:381
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Patent ductus arteriosus, Cholestasis, Hepatomegaly, Decreased liver function, Hy... OMIM:608104
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Pigmentary retinopathy, Dysphagia, Hepatomegaly, Optic atrophy, Ro... OMIM:264470
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Nephropathy, Cholestasis, H... ORPHA:85445
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation OMIM:601410
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Aortic regurgitation, Intrauterine growth retardation... OMIM:222470
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Secondary Short Bowel Syndrome
Low plasma citrulline, Growth delay, Constipation, Aganglionic megacolon, Weight loss, Steatorrhe... ORPHA:95427
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Abnormal urine potassium con... ORPHA:275761
Galactose Epimerase Deficiency
Growth delay, Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Hepatomegaly, Jaundice, Hypertriglycerid... OMIM:603552
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Azoospermia, Hepatomegaly, C... OMIM:602390
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Hypertension, Cholestasis, Ren... OMIM:610205
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hypertension, Coronary artery atheroscle... ORPHA:79084
Familial Atrial Myxoma
Vascular dilatation, Cholestasis, Tricuspid regurgitation, Jaundice, Heart murmur, Congestive hea... ORPHA:615
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatomegaly, Failure to thrive, Hepatic failure, Vomiting OMIM:617872
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, H... ORPHA:444490
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated serum transamin... OMIM:611182
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase, Hyperechogenic kid... OMIM:614576
Beta-Thalassemia Major
Cirrhosis, Arrhythmia, Abnormality of iron homeostasis, Hepatocellular carcinoma, Growth delay, H... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Hepatic fibrosis, Renal tubular atrophy, Renal corticom... OMIM:613550
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Decreased plasma total carnitine, Elevated hepatic transaminase, Red-brown urine, Hep... ORPHA:228305
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diarrhea, Elevated circulating cr... OMIM:255120
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Wilson Disease
Cirrhosis, Hyperphosphaturia, Hypoparathyroidism, Hepatocellular carcinoma, Aminoaciduria, Glycos... OMIM:277900
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancreas, Abnormal biliary trac... ORPHA:3032
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Arteritis, Scleritis, Acute kidney injury, Nephrot... ORPHA:93126
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
X-Linked Agammaglobulinemia
Skin rash, Hypocalcemia, Chronic otitis media, Sinusitis, Conjunctivitis, Hepatitis, Neoplasm, Re... ORPHA:47
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypopituitarism, Hypertriglyceridemia, Hypoalbu... OMIM:619013
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Heme Oxygenase 1 Deficiency
Hepatomegaly, Growth delay, Hematuria, Proteinuria OMIM:614034
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Hepatic fibrosis, Renal tubula... OMIM:604387
Hardikar Syndrome
Elevated hepatic transaminase, Hydroureter, Coarctation of aorta, Hyperbilirubinemia, Patent duct... OMIM:612726
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Renal ... ORPHA:890
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Arrhythmia, Hypoglycemia, Hepatomegaly, Organic aciduria, H... ORPHA:35
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardiac death,... OMIM:609040
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Mildly elevated creatine kinase, Hepatomegaly, Decreased activity of ... ORPHA:254864
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hematuria, Hypotension, Hyponatremia, Jaundice, Hepatitis... ORPHA:549
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Aortic regurgitation, Renal hypoplasia, Patent ductus... ORPHA:84064
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Cherry red spot of the macula, Splenomegaly ORPHA:796
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Verrucae, Sinusitis, ... ORPHA:33110
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Decreased liver function, Brady... OMIM:617397
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Short stature, Splenomegaly ORPHA:417
Acute Liver Failure
Skin rash, Elevated hepatic transaminase, Hepatocellular necrosis, Gastrointestinal hemorrhage, I... ORPHA:90062
Lcat Deficiency
Hematuria, Atherosclerosis, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal... ORPHA:650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hepatic fibrosis, Renal cyst, Polycystic kidney dysplasia, Short stature, Ascit... OMIM:614091
Listeriosis
Peritonitis, Pustule, Osteomyelitis, Endocarditis, Pericarditis, Pyelonephritis, Arteritis, Splen... ORPHA:533
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Hemoglobinuria, Cholelithiasis, Hepatomegaly, Jaund... OMIM:194380
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Dark urine, Hyper... ORPHA:521219
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Sudden cardiac death, Rena... ORPHA:156
Hyperbiliverdinemia
Green urine, Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Delayed pube... OMIM:616263
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Azoospermia, Elevated hepati... OMIM:235200
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Polycystic liver di... ORPHA:2924
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hepatic steatosis, Hyperbilirubine... ORPHA:14
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, ST segment depression, Hypertension, Hypopituitarism, Abno... ORPHA:90065
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic hepatitis, Hepatitis, Asplenia... OMIM:269200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Decreased plasma total carnitine, Red-brown urine, Cystic renal dysplasia, Renal tubu... ORPHA:157
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Elevated circulating C-reactive protein concentratio... ORPHA:1304
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Jaundice, Tachycardia, Splenomegaly, Increased urinary porphobilinoge... OMIM:121300
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Hyperammonemia OMIM:238970
Congenital Enterovirus Infection
Skin rash, Hypotension, Fetal ascites, Cholestasis, Hepatitis, Encephalitis, Hepatic failure, Myo... ORPHA:292
Mulibrey Nanism
Hepatomegaly, Short stature, Intrauterine growth retardation ORPHA:2576
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Cerebral atrophy, Hepatomegaly, Hypertriglyceridemia, Caudate atrop... ORPHA:363400
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Myoglobinuria, Elevated circ... OMIM:609015
Primary Sjögren Syndrome
Parotitis, Renal insufficiency, Arteritis, Abnormality of the kidney, Lymphoproliferative disorde... ORPHA:289390
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Increased circulating ferritin concentration, Elevated hepat... ORPHA:2442
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypertension, Biliary tract abnormality, Hepatic fibrosis, Left ventric... OMIM:209900
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Ventricular tachycardia, Hepatom... OMIM:600649
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Beta-Ketothiolase Deficiency
Hyperammonemia, Hypotension, Ketonuria, Hypertension, Hypoglycemia, Hepatomegaly, Hyperuricemia, ... ORPHA:134
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Short stature, Increased mitochondrial number ORPHA:457050
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hyperoxaluria, Hepatic fibrosis, Hepatomegaly, Renal cyst OMIM:601539
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, Ventricular hypertrophy, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Increased serum pyruvate, Hypoglycemia OMIM:614741
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Decreased liver function, Hypertrophic... OMIM:246900
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyroiditis, Erythro... ORPHA:139402
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Azoospermia, Growth delay, Hepatomegaly, Splenomegaly OMIM:615234
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Atheroscl... ORPHA:494424
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal circulating lipid... OMIM:615980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Heart block, Cardiomegaly, Elevated circulating creatine kinase concentration, R... ORPHA:228308
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increa... ORPHA:3008
Q Fever
Osteomyelitis, Endocarditis, Elevated hepatic transaminase, Pericarditis, Hematuria, Abnormal vas... ORPHA:781
Mccune-Albright Syndrome
Hypophosphatemia, Ovarian cyst, Renal phosphate wasting, Hyperplasia of the Leydig cells, Elevate... ORPHA:562
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Biliary hyperplasia, Gly... OMIM:210550
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Bradycardia, Hypertrophic cardio... OMIM:618775
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypocalcemia, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Increased serum pyruvate, Decreased plasma carnitine, Elevated circulating creatine... OMIM:500009
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis,... ORPHA:333
Malignant Atrophic Papulosis
Peritonitis, Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Telangiectasia of the skin,... ORPHA:679
Variegate Porphyria
Tachycardia OMIM:176200
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Pneumonia, Hepatitis, Recurrent pneumonia, Hepatosplenome... ORPHA:169160
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Short stature OMIM:612015
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, H... ORPHA:42
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Skin rash, Increased circulating ferritin concentration, Elevated hepa... ORPHA:540
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Intrauterine growth retardation, Cardiomyopathy, Splenomegaly OMIM:608540
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Intrauterine growth retardatio... OMIM:615846
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemi... ORPHA:79237
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Sclerosing cholangitis, Stomatitis, Hepatomegaly, Chronic hepatitis, Hepatitis, Spleno... OMIM:308230
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic diarrhea,... OMIM:618805
Barth Syndrome
Arrhythmia, Growth delay, Congestive heart failure, Abnormal mitochondrial morphology, Dilated ca... OMIM:302060
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Short stature, Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Argininemia
Micronodular cirrhosis, Postnatal growth retardation, Cholestasis, Hepatomegaly, Hyperargininemia... OMIM:207800
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Hyperlip... ORPHA:435651
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Decreased activity of mitochondrial complex IV, Hype... OMIM:619064
Congenital Disorder Of Glycosylation, Type Iik
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Short stature, Elevated circulating cr... OMIM:614727
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Elevated he... ORPHA:39812
Rift Valley Fever
Abnormal retinal artery morphology, Gastrointestinal hemorrhage, Weight loss, Cholestasis, Jaundi... ORPHA:319251
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Elevated hepatic transaminase, Growth delay, Hypoglycemia, Intrauterine growt... OMIM:608779
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:300438
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia, Growth delay OMIM:204000
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hepatic fibrosis, Hepatomegaly, Elevated circu... OMIM:207900
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Biliary tract abnormality, Colitis, Cholangi... OMIM:209920
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Peroxisome Biogenesis Disorder 3A (Zellweger)