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Gene: Pex1 MGI:1918632

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Pex1tm1e.1(EUCOMM)Hmgu HOM   Early adult 2.38×10-05
decreased heart rate Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 2.52×10-08
decreased cardiac muscle contractility Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 1.03×10-06
dilated heart left ventricle Pex1tm1e.1(EUCOMM)Hmgu HET Early adult 2.20×10-07

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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 Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Cryptorchidism, Jaundice,... ORPHA:912
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio... OMIM:214100
Infantile Refsum Disease
Hepatomegaly, Short stature, Elevated circulating phytanic acid concentration, Cardiomyopathy, Ar... ORPHA:772
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Short stature ORPHA:44
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... ORPHA:369
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hepatic... ORPHA:71212
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating cr... OMIM:232400
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... ORPHA:446
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypoglyc... OMIM:231530
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Decreased activity of mitochondrial complex III, Hepatocellular necrosis, Hypoalbuminemia, Decrea... OMIM:251880
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s... OMIM:620010
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... OMIM:602114
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Hepatic f... OMIM:278000
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Increased ci... OMIM:613313
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertriglyceridemia, Insulin-resi... OMIM:608600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus a... ORPHA:280356
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Left superior v... OMIM:613759
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex... OMIM:609060
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Prolonged prothrombin time, 3-Methylglutaconic acidu... OMIM:618329
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Abnormal circulati... ORPHA:79303
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... OMIM:604367
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Hepat... OMIM:619858
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Electron transfer flavoprotein-ubiquinon... OMIM:231680
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... OMIM:300635
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema, Porphyrinuria OMIM:176090
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... OMIM:201475
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... OMIM:267010
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... OMIM:610717
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function ORPHA:306550
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hepatic fibrosis, Fasting hypoglycemia, Hepat... ORPHA:264580
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Fanconi-Bickel Syndrome
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... ORPHA:2088
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... ORPHA:100093
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Short stature, Splenomegaly, Chronic kidney disease, Ch... OMIM:615630
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Senior-Loken Syndrome
Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas... ORPHA:3156
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Increased circulating lactate de... ORPHA:26791
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... OMIM:612284
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia ORPHA:172
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Short stature, P... OMIM:208500
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, C... OMIM:602579
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... OMIM:614921
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Nephronophthisis 16
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip... OMIM:615382
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... ORPHA:84081
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Ventricular... OMIM:212138
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Short stature, Congenital hepatic fibrosis, Cryptorchid... ORPHA:2377
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... ORPHA:53035
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... ORPHA:79230
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal... ORPHA:440713
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot... OMIM:105200
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:603194
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Donohue Syndrome
Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fi... OMIM:246200
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno... OMIM:216360
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Stroke, Hepatitis ORPHA:444463
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Cholestasis... OMIM:615415
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Failure t... OMIM:203700
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:611134
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... ORPHA:570422
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ... OMIM:620357
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst... OMIM:261515
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... ORPHA:247585
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Cholangiocarcinoma, Portal hyp... ORPHA:465508
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Hypoglycemia, Short stature, Herpes simplex encephalitis... OMIM:233600
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gl... OMIM:619534
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Hepatic steatosis... OMIM:618400
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Steatorrhea, Growth delay, Vomitin... ORPHA:71
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of... ORPHA:171
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Conjugated hyperb... OMIM:613404
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Hypoglycemia, Short stature, P... OMIM:613658
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... OMIM:616629
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... OMIM:612526
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... ORPHA:1414
Lambert Syndrome
Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia, Intrauterine growth retardation ORPHA:1296
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhi... OMIM:613610
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Intrauterine growth retardation,... ORPHA:26792
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglyce... ORPHA:2298
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouric... OMIM:227810
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis, T... OMIM:616589
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... ORPHA:79301
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Decreased activity... OMIM:615453
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Growth delay, Hepatic f... OMIM:617341
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hepatomegaly, Chilblains, Porta... OMIM:619487
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Hypertension... OMIM:615862
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Coarctation of aort... OMIM:606003
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... ORPHA:199296
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... ORPHA:91138
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... OMIM:605911
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Ascites, A... OMIM:615710
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... OMIM:615895
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Foam cells with lamellar inclusion bodies,... OMIM:607616
Essential Fructosuria
Abnormal urine carbohydrate level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Primary Biliary Cholangitis
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Conjugate... ORPHA:186
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Hypertension, N... ORPHA:110
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop... OMIM:264470
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func... OMIM:616299
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertriglyceridemia, Decreased HD... OMIM:151660
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Intrauterine growth retardation ORPHA:1980
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Hypertrop... ORPHA:848
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat... ORPHA:65682
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obesity, Abnormal c... OMIM:615980
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... OMIM:300972
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... OMIM:608836
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentra... OMIM:608104
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho... ORPHA:75234
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Cardiac myxoma, Heart ... ORPHA:615
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st... ORPHA:275761
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
Acth Deficiency, Isolated
Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency, Cholestas... OMIM:201400
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Type I diabetes melli... OMIM:618549
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Multiple lipomas ORPHA:2398
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Splenomegaly, Jaundice, He... ORPHA:381
Hyperbiliverdinemia
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... OMIM:614156
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine growth re... OMIM:614602
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Hypersplenism, High-output congestive hea... ORPHA:231226
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation OMIM:601410
Secondary Short Bowel Syndrome
Aganglionic megacolon, Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Cholest... ORPHA:95427
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... OMIM:238970
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a... OMIM:230350
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr... ORPHA:69663
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R... OMIM:608971
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Stroke-like e... OMIM:212065
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614576
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Abnorm... ORPHA:1304
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Vomiting, Increas... OMIM:617872
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Bardet-Biedl Syndrome 19
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Hepatic steatosis, Hydronephrosis OMIM:615996
Mednik Syndrome
Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fat... OMIM:609313
Listeriosis
Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Pustule, Congestive heart failure, Periton... ORPHA:533
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Hypertens... OMIM:610205
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr... ORPHA:47
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T... ORPHA:494424
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia OMIM:602079
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum... OMIM:619013
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Hypospadias, Short stature, Abnormality of the pancreas, Sple... OMIM:222470
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resis... OMIM:248370
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaund... ORPHA:90062
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Aminoaciduria ORPHA:79238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, De... ORPHA:276575
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... OMIM:619377
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Short stature, Mildly elevated creatine kinase ORPHA:457050
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertensi... ORPHA:90065
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... ORPHA:444490
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizure... ORPHA:276556
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Hypopituitarism, Diabetes mellitus, Hypersplenism, High-output ... ORPHA:231214
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... ORPHA:549
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Increased circulati... OMIM:602390
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Maculopapular exanthema, Skin... ORPHA:398124
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, D... OMIM:262190
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Increased uri... ORPHA:2394
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypogl... ORPHA:276580
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to... ORPHA:890
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Decreased circulating c... ORPHA:48818
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr... OMIM:603552
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Hepatitis, He... OMIM:194380
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Cerebral atrophy, Cirrhosis, Neuronal loss i... ORPHA:363400
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Decreased ... ORPHA:254864
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... OMIM:617156
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carbo... ORPHA:35
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Hypoglycemia, Abno... OMIM:300438
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Decreased activity of mitochondrial complex IV, Decr... OMIM:613561
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... OMIM:616263
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, Lymphocytic intersti... ORPHA:289390
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the kidney, Elevated circulating crea... ORPHA:79333
Mirizzi Syndrome
Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Elevated circulat... ORPHA:521219
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Idiopathic Congenital Hypothyroidism
Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased h... OMIM:261750
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Gastritis, Short stature, Splenomegaly, Patent ductus arterio... ORPHA:84064
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycys... ORPHA:79084
Congenital Enterovirus Infection
Skin rash, Fetal ascites, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiomyopathy, Hy... ORPHA:292
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Hyperglycemia, Tachycardia, Intrauterine growth retardation OMIM:619737
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... OMIM:121300
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoac... OMIM:619991
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... ORPHA:134
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal... ORPHA:14
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... OMIM:269200
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature ORPHA:417
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dys... OMIM:614091
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Renal tubular ac... ORPHA:156
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:614727
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Hepatic steatosis, Bloody diarrhea OMIM:615119
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li... OMIM:246900
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Tachycard... ORPHA:39812
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... ORPHA:679
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... ORPHA:293964
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... OMIM:127550
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa... OMIM:235200
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Skin rash, Maculopapular exant... ORPHA:540
Cadds
Elevated hepatic transaminase, Cholangitis, Cholestasis, Increased circulating very long-chain fa... ORPHA:369942
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, CNS foam ce... ORPHA:333
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Hyperprolinemia, Cerebral atrophy, Hyperalaninemia, Hepatic steatosis OMIM:615918
Simple Cryoglobulinemia
Myocardial infarction, Mesangial hypercellularity, Nephritis, Membranoproliferative glomeruloneph... ORPHA:91139
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine gr... OMIM:613861
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Hematological neoplasm, Keratitis... ORPHA:1163
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele... ORPHA:454836
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Short stature, Cryptorchidism, Micropenis, Hydronephrosis OMIM:619185
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemi... OMIM:608612
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... OMIM:610198
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Rhizomelia, Optic nerve hypoplasia, Disproportio... OMIM:222765
Argininemia
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... OMIM:207800
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... OMIM:308230
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Lactic... ORPHA:3008
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia OMIM:614741
Mulibrey Nanism
Hepatomegaly, Short stature, Intrauterine growth retardation ORPHA:2576
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... OMIM:613070
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Short stature, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I ... OMIM:613385
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Gro... OMIM:243910
Congenital Tufting Enteropathy
Chronic diarrhea, Secretory diarrhea, Optic disc coloboma, Weight loss, Cholestatic liver disease... ORPHA:92050
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... OMIM:209920
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality o... ORPHA:52
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Enteric Anendocrinosis
Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension ORPHA:83620
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, H... ORPHA:228426
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Pneumonia, Proteinuria, Decreased response to growth hormone stimulation ... ORPHA:1855
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h... ORPHA:5
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Short stature, Decreased ... OMIM:232200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Decreased activity of... OMIM:619064
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly OMIM:610539
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Necrotizing Enterocolitis
Shock, Hyponatremia, Peritonitis, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hypergl... ORPHA:391673
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Short sta... OMIM:301056
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrop... OMIM:619418
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Short stature, Renal cyst ORPHA:2031
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat... ORPHA:69076
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperinsulinem... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:619386
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Pneumonia OMIM:269840
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Medial calcification of large arteries, Functional abnorma... ORPHA:391487
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, ... ORPHA:199299
Lichen Planopilaris
Neoplasm of the oral cavity, Hepatitis ORPHA:525
Illum Syndrome
Bradycardia OMIM:208155
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Gastroesophageal reflux, Constipation, Failure to t... ORPHA:300536
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... OMIM:261680
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... ORPHA:98907
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Type I diabetes mellitus OMIM:304790
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Postnatal growth retardation, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchi... ORPHA:1655
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short stature, Conjugat... OMIM:211600
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c... OMIM:608779
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Cong... ORPHA:79083
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic... OMIM:614866
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia OMIM:613730
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:230400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hyper... OMIM:615381
Bardet-Biedl Syndrome 1
Diabetes mellitus, Abnormality of the kidney, Insulin resistance, Biliary tract abnormality, Abno... OMIM:209900
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Hypercholesterolemia, Failure ... ORPHA:528
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormality of chromosome stability, Diabetes mellitus, Telangiect... ORPHA:100
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopath... ORPHA:746
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hepatomegaly, Chilblains, Intrauterine growth retardation OMIM:615010
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hydronephrosis OMIM:247990
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Hepatomegaly OMIM:607685
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris... ORPHA:412
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Raynaud phe... OMIM:613471
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Neoplasm of the breast, Prematur... ORPHA:79474
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Alagille Syndrome 1
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h... OMIM:118450
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Dilated cardiomyopathy, Hepatic fibrosis, Short stature OMIM:613989
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Leprechaunism
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Long penis, Hyp... ORPHA:508
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension, Increased circulating cortisol level, Macronodula... OMIM:615954
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Cachexia, Diarrhea, Dys... ORPHA:298
Fanconi Anemia, Complementation Group O
Chromosome breakage, Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, N... OMIM:613390
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries OMIM:608709
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... OMIM:601847
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con... ORPHA:232
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Vasculitis, Uveitis, Arthriti... ORPHA:575
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... OMIM:614859
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct... OMIM:620005
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Lymphoproliferative disorder, Short stature, Postnatal growth ... OMIM:609981
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556037
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Diabetes mellitus, Cholangitis, Pneu... ORPHA:183675
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... OMIM:618958
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... ORPHA:171876
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Short stature, Cholangitis, Rhizomelia, Pancreatic cysts, Con... OMIM:266920
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:237800
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... OMIM:308240
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Growth delay, Hypocalcemia, Ascites ORPHA:100025
Autosomal Erythropoietic Protoporphyria
Eczema, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhosis, Cholel... ORPHA:79278
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty... ORPHA:263455
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Short stature, Postn... OMIM:620210
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... OMIM:266150
Axial Mesodermal Dysplasia Spectrum
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Re... ORPHA:1834
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Ascites, Arteriove... ORPHA:974
Melioidosis
Shock, Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, H... ORPHA:31202
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Short stature ORPHA:2204
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, Growth delay, Pulmonic st... OMIM:179613
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:435651
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma ORPHA:86893
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Hemangiomatosis, Renal hypoplasia/aplasia, Visc... ORPHA:2123
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchidism... OMIM:235255
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Hype... ORPHA:97278
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni... OMIM:240300
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the pancreas, Abno... ORPHA:1926
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... ORPHA:234
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Stomatitis, Chole... ORPHA:438274
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... ORPHA:99228
Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... ORPHA:99226
Turner Syndrome
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... ORPHA:881
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Recurrent urinary tract infections, Lymphoproliferative disorder, Elevated circulat... OMIM:615559
Shigellosis
Hyponatremia, Hypoglycemia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Ureth... ORPHA:810
Obesity And Hypopigmentation
Hepatic steatosis, Obesity OMIM:620195
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase afte... ORPHA:159
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Hypertriglyceridemia, Insulin-resista... ORPHA:79086
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:616860
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Proteinuria, Decr... OMIM:232220
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Glomerulopathy, Hypertriglyceridemia, Congest... ORPHA:2348
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556030
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, ... OMIM:619063
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa... ORPHA:2552
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, In... OMIM:615846
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Decreased mitochondrial number ORPHA:352470
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration OMIM:300752
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Seckel Syndrome 10
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated hemo... OMIM:617253
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Intrauterine growth retardat... ORPHA:858
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Vas... ORPHA:3261
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Hyperglycem... ORPHA:466677
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... ORPHA:83617
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Familial Thyroid Dyshormonogenesis
Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure to thrive, Hepatic steatosis ORPHA:70472
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... ORPHA:48435
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:605479
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormality of the kidney, Congestive heart failure, Cryptorchidism, H... ORPHA:1194
Leber Congenital Amaurosis 1
Growth delay, Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria OMIM:204000
Myasthenia Gravis
Myositis, Raynaud phenomenon, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis ORPHA:589
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... OMIM:133180
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Cryptorchidism, Jaundice,... ORPHA:912
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Short Syndrome
Prominent superficial veins, Insulin resistance, Insulin-resistant diabetes mellitus, Birth lengt... OMIM:269880
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Diabetes mellitus, Truncus arteriosus, Patent ductus ar... OMIM:600001
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, In... OMIM:606176
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Hyperorni... ORPHA:415
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating aspartate aminotransferase concentrati... OMIM:614034
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Lymphoma, Arthritis ORPHA:37748
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis, Mucopolysacchariduria, Arteriovenous malformation, Ascites ORPHA:584
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopathy, Decr... OMIM:614299
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Abno... ORPHA:3166
Microphthalmia, Syndromic 9
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Patent ductus arteriosus,... OMIM:601186
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Decreased response to gr... OMIM:307200
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... ORPHA:728
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancrea... OMIM:612714
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay, Delayed puberty, ... OMIM:615704
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Biliary cirrhosi... ORPHA:227990
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... ORPHA:97282
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, High-output conges... ORPHA:231222
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Neonatal... ORPHA:1667
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple... OMIM:618278
Cat-Eye Syndrome
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... ORPHA:195
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... OMIM:617713
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Chronic mucocutaneou... ORPHA:227982
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Patent ductus arteriosus, Renal hypoplasia, Peri... OMIM:269860
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... OMIM:276700
Kawasaki Disease
Pericarditis, Skin rash, Proteinuria, Congestive heart failure, Myocarditis, Vasculitis, Jaundice... ORPHA:2331
Babesiosis
Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Congestive heart failure,... ORPHA:108
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Vomiting, I... OMIM:238600
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Short stature, Elevated circulating creatine kinase concentration,... ORPHA:52430
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria ORPHA:1334
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Elevated gamma-glutamy... OMIM:619573
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic f... ORPHA:75233
Image Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Intrauterine growth retardation ORPHA:85173
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, ... OMIM:616026
Cranioectodermal Dysplasia 1
Hepatomegaly, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chro... OMIM:218330
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:232800
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia OMIM:615986
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu... OMIM:619433
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp... ORPHA:681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... ORPHA:90003
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Meckel Syndrome 14
Mitral regurgitation, Tricuspid regurgitation, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Patent ductus arteriosus, Jaundice, Type I ... ORPHA:290
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Short stature, Insulin resistance, Fasting hyperins... ORPHA:769
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... OMIM:266200
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Hypoglycemia, Hepatoblastoma, Spider hemangioma, Chronic pancr... OMIM:232240
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... OMIM:618892
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Exostoses ORPHA:251076
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Elevated carcinoembryonic antigen level, Elevate... ORPHA:100085
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Intrauter... ORPHA:436252
Spastic Paraplegia Type 7
Urinary urgency, Abnormal mitochondrial morphology ORPHA:99013
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Decreased fumarate hydratase activity, In... OMIM:606812
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay, Pancr... ORPHA:289916
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivit... OMIM:240500
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Neonatal death, Hypertrophic car... OMIM:618810
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoca... OMIM:243800
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... ORPHA:367
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He... ORPHA:73263
Williams-Beuren Region Duplication Syndrome
Short stature, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ... OMIM:609757
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Renal cyst OMIM:213300
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypopr... OMIM:267700
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Orofaciodigital Syndrome I
Proteinuria, Short stature, Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Hypertens... OMIM:311200
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis OMIM:619797
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Nephropathy, Bence Jones Proteinuria ORPHA:100024
Gaucher Disease, Type Iii
Hepatomegaly, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level, Vascular calc... OMIM:231000
Glucagonoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97280
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria OMIM:618857
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... ORPHA:79259
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Dilation of Virchow-Robin spaces, E... OMIM:615273
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Short stature, Decreased response to growth hormone ... ORPHA:293987
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Very long chain... ORPHA:98908
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:613489
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... OMIM:614922
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Abnormality of the pancreas, ... ORPHA:2315
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... ORPHA:90308
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena ORPHA:319218
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Myelodysplasia, Raynaud phenom... ORPHA:3260
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Hypoplasia of penis, Telangiectasia of the ski... ORPHA:99812
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hyperlipidemia, Obesity, Intrauterine growth retardation, Hepatic steatosis ORPHA:254346
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Neoplasm of the nervous ... ORPHA:100086
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Hydronephrosis OMIM:618578
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... OMIM:614872
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Decreas... OMIM:619167
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Cardiomyopathy, Stroke, Pancreat... ORPHA:79312
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Retinal hemorrhage, Hepatitis, U... ORPHA:319251
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Eczema, Increased level of hippuric acid in urine, Short stature, Cer... OMIM:606054
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-... OMIM:256550
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Patent ductus arteriosus, Elevated circulating long... OMIM:614886
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Pitui... ORPHA:189427
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex, Renal hypoplasia, Lactica... OMIM:604273
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio... OMIM:214100
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Abnormality of the spleen, Splenomegaly, Calcification of the a... ORPHA:2072
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II OMIM:224100
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ... ORPHA:3467
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Elevated circulating lon... OMIM:214110
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Splenomegaly, Cardiomyopathy, Rhinitis ORPHA:93476
Niemann-Pick Disease, Type A
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Elevated circulating aspa... OMIM:257200
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Bradycardia, Hypotension, Decreased liver func... ORPHA:90051
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Enterocolitis, T-cell lymphoma, Hematochezia, Hypoplasia of the thymus, ... OMIM:243150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Recurrent urinary tract infections, Perianal abscess, ... OMIM:612541
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay OMIM:615631
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney... OMIM:251000
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast... ORPHA:509
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Inflammatory abnormality of the skin, Elevated ... ORPHA:26793
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, E... OMIM:614376
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Hyp... ORPHA:91
Tarp Syndrome
Subdural hemorrhage, Horseshoe kidney, Hepatic failure, Neonatal death, Intrauterine growth retar... OMIM:311900
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin ... ORPHA:913
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Hamartoma of tongue, Hepatic fibrosis, Polycystic k... OMIM:263520
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Short stature, Hydronephrosis ORPHA:85285
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati... OMIM:609069
Cat Eye Syndrome
Renal agenesis, Short stature, Patent ductus arteriosus, Biliary atresia, Horseshoe kidney, Total... OMIM:115470
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Hepatomegaly, Failure to thrive, Optic atrophy ORPHA:2971
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Growth delay, Pulm... ORPHA:2414
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Hypocalcemic tet... ORPHA:83471
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ... OMIM:611881
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Pfapa Syndrome
Splenomegaly, Arthritis, Infectious encephalitis, Hepatomegaly ORPHA:42642
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidney, Hydron... ORPHA:99776
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Biliary atresia, Elevated circulating creatine kinase concentration ORPHA:565899
Temporal Arteritis
Retinal arteritis OMIM:187360
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia ORPHA:79477
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Hashimoto thyroid... ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypoglycemia, Hypospadias, Increased hepatocellular lipid droplets, Microvesicular hep... OMIM:220111
Aredyld Syndrome
Hepatomegaly, Short stature, Splenomegaly, Abnormality of the ureter, Refractory anemia with ring... ORPHA:1133
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... OMIM:201450
Alpha-Thalassemia
Myelodysplasia, Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... ORPHA:100078
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... ORPHA:131
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... ORPHA:699
Trisomy 13
Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Capill... ORPHA:3378
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... OMIM:246450
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Short stature ORPHA:977
Mitochondrial Complex I Deficiency, Nuclear Type 18
Decreased activity of mitochondrial complex I, Hydroureter, Hydronephrosis OMIM:618240
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Takayasu Arteritis
Arteritis OMIM:207600
Fetal Gaucher Disease
Hepatomegaly, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Stillbirth, Neona... ORPHA:85212
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Abnormal ... ORPHA:565612
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Skin rash, Hypop... OMIM:603553
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Abnormal coronary artery course, Seborrheic der... ORPHA:488618
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Coarctation of aorta, Recurrent otit... OMIM:618494
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Chronic oral c... OMIM:300400
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A... OMIM:137920
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Recurrent pneumonia, Lymphoma, EBV ence... OMIM:615122
Infantile Refsum Disease
Hepatomegaly, Short stature, Elevated circulating phytanic acid concentration, Cardiomyopathy, Ar... ORPHA:772
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemi... ORPHA:348
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Vasculitis, Skin rash OMIM:601979
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... ORPHA:99827
Smith-Lemli-Opitz Syndrome
Facial capillary hemangioma, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepati... OMIM:270400
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Hypocal... OMIM:300712
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur... OMIM:607594
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Rhizomelia, Ureteral hypoplasia... ORPHA:79328
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Splenome... ORPHA:36412
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Gaucher Disease
Hepatomegaly, Osteomyelitis, Proteinuria, Short stature, Elevated circulating C-reactive protein ... ORPHA:355
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... OMIM:616433
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Splenomegaly, Elevated ... ORPHA:98848
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Heart m... ORPHA:163979
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Atheroscler... ORPHA:79292
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Hydroureter, Stroke-like episode, Growth delay, Cardiomyop... OMIM:222300
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope... ORPHA:96092
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Sarcoma ORPHA:66661
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Acute leukemia, Intracranial hemorrhage, Mye... ORPHA:3226
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Decreased nerve cond... ORPHA:1933
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... ORPHA:99901
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different... OMIM:618541
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,... ORPHA:263297
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... ORPHA:90324
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Hepatic steatosis, Elevated hemoglobin ... OMIM:210900
D-Glyceric Aciduria
Bradycardia OMIM:220120
Carpenter Syndrome 1
Hydroureter, Short stature, Cryptorchidism, Patent ductus arteriosus, Transposition of the great ... OMIM:201000
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Lymphocytic interstitial pneumonia, Splenomegal... OMIM:618495
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Myocarditis, Fulminant hepatitis, Subconjunctival hemorrhag... ORPHA:319213
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, De... ORPHA:2609
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph... ORPHA:436159
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Dilated cardi... ORPHA:352447
Distal Deletion 12Q
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Short stature, Maturi... ORPHA:96149
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Chole... ORPHA:77293
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Vomiting, Decreased liver function, Diffuse ... ORPHA:436271
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Cardiomyopathy, Pancreatitis ORPHA:27
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Double outlet right ventricle... OMIM:220210
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Jaundice, Arthritis, Keratoconjunctivitis si... ORPHA:779
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Microvesicular hepatic steatosis, Hyperammonemia, Cerebral atrophy, Failure t... OMIM:616672
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Hodgkin lymphoma OMIM:619375
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... OMIM:613470
Igg4-Related Aortitis
Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... ORPHA:449400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Bronchiectasis, Cholestasis, Recurrent otitis media, Pulmo... OMIM:620233
Desmoid Tumor
Gastrointestinal hemorrhage, Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of ... ORPHA:873
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnata... ORPHA:75249
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Bowel incontinence, Cachexia, Optic atrophy, Abnorma... ORPHA:702
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Pulmonary arterial hype... ORPHA:210122
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Short stature, Optic atrophy, Abno... OMIM:231550
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Vomiting OMIM:210200
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, B-cell lymphoma, Splen... OMIM:619381
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... ORPHA:900
Developmental Delay, Language Impairment, And Ocular Abnormalities
Short stature, Hydronephrosis, Pulmonic stenosis, Facial telangiectasia OMIM:620141
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ovar... ORPHA:83469
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Hydronephrosis, Hydroureter OMIM:598500
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... OMIM:300755
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... OMIM:615578
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... OMIM:170100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglycerid... ORPHA:280365
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Laryngeal papilloma, Elevated circulating C-reactive protein concentration, Splenom... OMIM:617388
Distal Triplication 15Q
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... ORPHA:314588
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Hemolytic-uremic syndrome, Cryptorch... OMIM:611209
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Short stature, Hypercalcemia, Cryptorchidism, Splenomegaly, Hyperca... OMIM:618440
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Patent ductus arteriosus, Urethral stenosis, ... ORPHA:261290
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Hereditary Spherocytosis
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Growth delay, Hyperbilirubin... ORPHA:822
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypote... ORPHA:94093
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoart... OMIM:142680
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ureteral duplication, Hypoglycemia, Hyp... ORPHA:373
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Cholelithiasis, Testicu... OMIM:160900
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Hematuria, Growth delay, ... ORPHA:77259
Distal Duplication 6P
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... ORPHA:1745
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglyce... ORPHA:469
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Growth delay, Arthritis, Recu... ORPHA:343
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... ORPHA:97287
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration... OMIM:619423
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis OMIM:619431
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Abnorm... ORPHA:85443
Radiation Proctitis
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Arteritis, Hematochezia ORPHA:70475
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cardiomegaly, Micropenis, Intrauterine growth retardation, Hypertrophic cardiomyopat... OMIM:616897
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Diarrhea, Cerebral atrophy, Xanthelasma, Abnormal circulat... OMIM:213700
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Splenomegaly, Vasculitis,... OMIM:225750
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiectasia, Ectopi... OMIM:235510
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, M... ORPHA:79456
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis OMIM:235700
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Prolonged neonatal jaundice ORPHA:90673
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag... ORPHA:363618
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Crypt... ORPHA:261494
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abno... ORPHA:3376
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... ORPHA:564
Occipital Horn Syndrome
Recurrent urinary tract infections, Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bladd... ORPHA:198
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... OMIM:603903
3C Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Postnatal growth retardation, Pulmonic stenosis,... ORPHA:7
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... OMIM:617591
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Vasculitis in the skin OMIM:620296
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Cryptorchidism, Growth delay, Intrauterine growth retardation, Hydronephrosis ORPHA:2083
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left superior vena cava draining... ORPHA:464738
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Ketonur... ORPHA:20
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... OMIM:617913
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Short stature, Small for gestational age... ORPHA:2959
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Hypoalbuminemia OMIM:226990
22Q11.2 Duplication Syndrome
Urethral stenosis, Growth delay, Transposition of the great arteries, Interrupted aortic arch, Di... ORPHA:1727
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Hashimoto thyroiditis, Hepatomegaly, Renal... OMIM:615688
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De... OMIM:500013
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia, Intrauterine growth retardation OMIM:610678
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Severe postnatal growth retardation, Erythroderma, Hydronephrosis, Neonatal hypogl... ORPHA:35173
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90037
Cimdag Syndrome
Hepatomegaly, Retinal dystrophy, Microvesicular hepatic steatosis, Cerebral atrophy, Pontocerebel... OMIM:619273
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital posterior urethral valve, Hydro... OMIM:100100
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Orthostatic hypotension, Hypospadias, Neurogenic bladder, Sta... OMIM:191800
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Elevated circulat... OMIM:280000
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Short stature, Postnatal growth retardation, Cryptorchidism, Intrauter... OMIM:612513
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Optic ... ORPHA:66634
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Hepatomegaly, Vasculitis OMIM:601859
Musculocontractural Ehlers-Danlos Syndrome
Recurrent skin infections, Cryptorchidism, Abnormal mesentery morphology, Functional abnormality ... ORPHA:2953
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Hypotension... ORPHA:99828
Microscopic Polyangiitis
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... ORPHA:727
Fanconi Anemia, Complementation Group Q
Growth delay, Chromosome breakage, Biliary atresia, Short stature OMIM:615272
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Proteinu... ORPHA:77297
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Stroke, Cirrhosis... OMIM:215700
Suleiman-El-Hattab Syndrome
Cryptorchidism, Hydronephrosis OMIM:618950
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Myocardial necrosis, Short s... OMIM:260400
Hb Bart'S Hydrops Fetalis
Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly ORPHA:163596
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Heart murmur, Micropenis, Nephrocalcinosis, Neuroblastoma, Apl... ORPHA:264450
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Renal cyst OMIM:614862
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Short stature, Heparan sulfate excretion in urine, Splenomega... OMIM:607015
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Recurrent skin infections, Epistaxis, Splenomegaly, Hepatosplenomegaly OMIM:612840
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Transient aminoaciduria... OMIM:229600
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia OMIM:229700
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Skin rash, Short st... OMIM:277380
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia OMIM:619053
Netherton Syndrome
Skin rash, Eczema, Short stature, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis ORPHA:634
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Congestive hea... ORPHA:444077
Kury-Isidor Syndrome
Recurrent otitis media, Growth delay, Hydronephrosis OMIM:619762
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas... OMIM:231670
Encephalitis Lethargica
Bradycardia ORPHA:83600
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cel... OMIM:257220
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
American Trypanosomiasis
Hepatomegaly, Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arr... ORPHA:3386
Lymphoproliferative Syndrome 1
Hepatomegaly, Lymphoproliferative disorder, B-cell lymphoma, Elevated circulating C-reactive prot... OMIM:613011
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis ORPHA:83313
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Decreased activity o... OMIM:251900
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Transposition of the great arteries, Neonatal death, Persistent left superior v... OMIM:314390
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Prolonge... ORPHA:809
Yellow Fever
Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Suprave... ORPHA:99829
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Intrauterine growth retardat... OMIM:614846
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Myositis, Juxtaductal coarctation of the aorta, Pericarditis... ORPHA:3310
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Elevated circ... ORPHA:2785
Digeorge Syndrome
Parathyroid hypoplasia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Acne, Parathyr... OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 29
Lacticaciduria, Stage 5 chronic kidney disease, Palpitations, Decreased activity of mitochondrial... OMIM:618250
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100080
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Growth delay, Hypoalbuminemia, Budd-Chiari syndrome, Intestinal... OMIM:226300
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Cholelithiasis, Annular pancreas ORPHA:97297
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Short stature, Hydronephrosis ORPHA:364028
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Short stature, Cryptorchidism, Patent ductus arteriosus, Growth delay, Hydronephrosis ORPHA:457193
Hereditary Elliptocytosis
Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun... ORPHA:288
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Cryptorchidism, Hydronephrosis ORPHA:531151
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... OMIM:220110
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Nephrotic syndrome, Malar ra... OMIM:603909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Short stature, Elevated circulat... OMIM:615356
Degcags Syndrome
Bilateral renal hypoplasia, Intrauterine growth retardation, Hepatomegaly, Hypospadias, Cryptorch... OMIM:619488
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass... ORPHA:79102
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia... ORPHA:2092
Trisomy 1Q
Multicystic kidney dysplasia, Cryptorchidism, Patent ductus arteriosus, Congenital megaureter, Hy... ORPHA:261344
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ... ORPHA:818
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Monosomy 13Q34
Hypercalcemia, Obesity, Growth delay, Hematochezia, Hepatic steatosis ORPHA:96168
Noonan Syndrome 4
Ureteral duplication, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopat... OMIM:610733
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Neonatal death, Hypospadias, Pulmonary artery stenosis, Patent ductus arteriosus, Parti... OMIM:265380
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermati... ORPHA:2237
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Neonatal hyperbilirubinemia, Portal ve... ORPHA:3202
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Cone/cone-rod dystrophy, Optic d... ORPHA:404454
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Zaki Syndrome
Patent ductus arteriosus, Renal agenesis, Hydronephrosis, Short stature OMIM:619648
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Congestive hear... ORPHA:35687
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... OMIM:251110
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... ORPHA:308552
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:615926
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Mild postnatal growth retardation, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... OMIM:175200
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia OMIM:182900
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test,... OMIM:602782
Toluene Embryopathy
Cryptorchidism, Short stature, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, ... OMIM:616100
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Cerebellar atrophy, Cerebral atrophy, Growth delay, Hepatic steatosis ORPHA:445038
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... OMIM:302960
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Prolonged neonatal jaundice ORPHA:90674
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Micro Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Abnormal localization of kidney, Delayed pube... ORPHA:2510
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Patent ductus art... OMIM:610505
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Congestive heart failu... ORPHA:33226
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100082
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Short stature, Eczema, Cryptorchidism, Patent ductus arterios... OMIM:610443
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase... OMIM:619424
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Decrea... OMIM:201100
Common Variable Immunodeficiency
Elevated hepatic transaminase, Pneumonia, Gastrointestinal stroma tumor, Splenomegaly, Vasculitis... ORPHA:1572
Marburg Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Pancreatitis, Jaundice, Hypovole... ORPHA:99826
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Short stature, Cryptorchidism, Vesicoureteral reflux, Hydronep... ORPHA:96169
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... ORPHA:79404
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Splenomegaly, Growth delay, Recurrent otitis media, Recurrent aphthous stomatitis, ... OMIM:301078
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... OMIM:278300
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling, Mildly elevated creatine kinase ORPHA:397744
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Short stature, Elevated circulating creatine kinase concentration OMIM:619518
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha... ORPHA:2750
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal ... OMIM:185000
Distal Duplication 5Q
Hypospadias, Eczema, Short stature, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nephroblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortica... OMIM:130650
Cardiofaciocutaneous Syndrome 1
Short stature, Splenomegaly, Atopic dermatitis, Cavernous hemangioma, Pulmonic stenosis, Hypertro... OMIM:115150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis, Intrauterine growth retardation OMIM:620327
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardatio... OMIM:269150
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis ORPHA:70578
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Growth ... ORPHA:261349
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Me... OMIM:251100
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... OMIM:602541
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Spl... ORPHA:342
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm... OMIM:253260
Shwachman-Diamond Syndrome 2
Hepatomegaly, Short stature, Steatorrhea, Prolonged prothrombin time, Hyperechogenic pancreas, Ex... OMIM:617941
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature,... ORPHA:1606
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Chronic mucocutaneous... ORPHA:79124
Niemann-Pick Disease, Type C2
Hepatomegaly, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterificati... OMIM:607625
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Rhizomelia, Cerebral atrophy, Growth delay, Intrauterine growth retardation, ... OMIM:616271
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Mucopolysacchariduria, Rhinitis ORPHA:93474
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Abdominal obesity, Hypop... OMIM:619321
Mesomelia-Synostoses Syndrome
Short stature, Hydronephrosis ORPHA:2496
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci... OMIM:557000
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections OMIM:619218
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Intrauterine growt... OMIM:601346
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Multipl... OMIM:230800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,... OMIM:608885
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Micropenis, Hepatosplenomegaly, Hyperbili... OMIM:613673
Hyperphosphatasia-Intellectual Disability Syndrome
Supernumerary nipple, Telangiectasia, Growth delay, Elevated circulating alkaline phosphatase con... ORPHA:247262
Stromme Syndrome
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Tetraploidy
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... OMIM:239200
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hypospadias, Eczema, Unilateral renal agenesis, Anterior pituitary hypoplas... ORPHA:464306
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Vasculitis, Hematuria, Arthri... ORPHA:397
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype... ORPHA:280633
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short stature, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, ... OMIM:618454
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypoglycemia, Hypospadias, Splenomegaly, Concentric... OMIM:252010
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Short stature, Hydronephrosis OMIM:618265
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Vascular dilatation, Recurrent pneumonia, Growth delay, Hypoplasia of the thymu... OMIM:613177
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Optic atrophy, Chorioretinal hypopigmentation, Hypoalbuminemia, Macro... OMIM:617303
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Eczema, Short stature, Postnatal growth retardation, Cryptorchid... ORPHA:235
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Short stature, Renal agenesis, Intrauterine growth retardation, Hem... ORPHA:1297
Encephalocraniocutaneous Lipomatosis
Astrocytoma, Subcutaneous lipoma, Cryptorchidism, Lipoma, Pelvic kidney, Multiple central nervous... OMIM:613001
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:616689
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Hydronephrosis OMIM:300048
Porphyria, Congenital Erythropoietic
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Elevated circulat... OMIM:263700
Metachromatic Leukodystrophy
Bowel incontinence, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Hemobil... ORPHA:512
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenos... OMIM:616737
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Short stat... ORPHA:1775
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Pu... OMIM:612852
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Sinusitis, Diabetes mellitus... ORPHA:811
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... ORPHA:100075
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arter... ORPHA:464311
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:158048
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Cryptorchidism, Cholelithiasis, Micropenis, Decreased testicular size OMIM:300534
Jacobsen Syndrome
Multicystic kidney dysplasia, Short stature, Eczema, Cryptorchidism, Annular pancreas, Coarctatio... ORPHA:2308
Baller-Gerold Syndrome
Short stature, Lymphoma, Abnormality of the ureter, Abnormal localization of kidney, Growth delay... ORPHA:1225
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Short stature, Hydronephrosis OMIM:619179
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Renal h... ORPHA:93271
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Proteinuria, Elevated circulating g... ORPHA:79318
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Hepatosplenomegaly, Hyperca... OMIM:219700
Triosephosphate Isomerase Deficiency
Optic disc pallor, Splenomegaly, Jaundice, Cerebral atrophy, Cholecystitis, Prolonged neonatal ja... OMIM:615512
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... OMIM:614080
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Primary hypercortisolism, Ileal ... ORPHA:100079
Beckwith-Wiedemann Syndrome
Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Leiomyosarcoma, Neoplasm, Vesicoureter... ORPHA:116
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Splenomegaly, Otitis media, Inflammatory abnormal... ORPHA:379
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Elevated circulating alkaline phosphatase c... OMIM:618268
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Patent ductus arteriosus, Interrupted aortic arch, Vesicoureteral ... ORPHA:250989
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal aortic arch morphology, Abnor... ORPHA:2059
15Q Overgrowth Syndrome
Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi... ORPHA:314585
Opitz Gbbb Syndrome
Enlarged ovaries, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Coarctati... ORPHA:2745
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Postnatal growth retardation, Cryptorchidism, Growth delay, Micropen... OMIM:301040
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the kidney, Renal insufficiency... ORPHA:228123
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Cardiac conduction abnormality, Abnormality of Krebs cyc... ORPHA:255210
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
7Q11.23 Microduplication Syndrome
Hypospadias, Short stature, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, ... ORPHA:96121
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, T... ORPHA:365
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... ORPHA:980
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypto... ORPHA:2473
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis OMIM:616449
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryptorchidism, Ren... OMIM:229850
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... OMIM:308050
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Glioma, Short stature... OMIM:251260
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Proteinuria, Hypertriglycer... OMIM:619127
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Myositis, Panniculitis OMIM:619183
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Sh... OMIM:618460
Immunodeficiency 31C
Hepatomegaly, Diabetes mellitus, Osteomyelitis, Eczema, Short stature, Splenomegaly, Bronchiectas... OMIM:614162
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Myeloid leukemia, Recurrent p... ORPHA:798
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis, Neoplasm of the skin ORPHA:53715
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... ORPHA:847
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Short stature, Tricuspid stenosis, Abnormality of the kidne... ORPHA:391641
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... OMIM:619503
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hypospadias, Short stature, Bilateral cryptorchidism, Cryptorchidism, Patent du... OMIM:180849
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Short stature, Patent ductus arteriosus, Unilateral breast hypoplasia, Hydroneph... OMIM:300968
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Sotos Syndrome
Ureteral duplication, Astrocytoma, Neoplasm, Vesicoureteral reflux, Chronic otitis media, Hypospa... ORPHA:821
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... ORPHA:2437
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... ORPHA:3455
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Renal duplication, Eczema, Testicular neoplasm, Hypospadias, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Renal duplication, Eczema, Testicular neoplasm, Hypospadias, ... ORPHA:363958
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... ORPHA:183
Raine Syndrome
Hydroureter, Short stature, Elevated circulating alkaline phosphatase concentration, Hypophosphat... OMIM:259775
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Hydronephrosis ORPHA:488613
Omenn Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Hypoproteinemia OMIM:603554
Carey-Fineman-Ziter Syndrome
Short stature, Glandular hypospadias, Growth delay, Hydronephrosis, Hypertensive crisis ORPHA:1358
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal mitochondrial shape ORPHA:485421
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Cryptorchidism, Micropenis, Hydronephrosis OMIM:617798
Cardiofaciocutaneous Syndrome
Short stature, Cryptorchidism, Cavernous hemangioma, Pulmonic stenosis, Hypertrophic cardiomyopat... ORPHA:1340
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Decreased circulating lipoprote... ORPHA:556955
Visceral Myopathy 1
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis OMIM:155310
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Abnormal mitochondrial shape ORPHA:412217
Genitopatellar Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Short stature, Hydronephrosis ORPHA:85201
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Neoplasm, Otitis media, Vesicoureteral reflux, Hypospadias, Short stature, Cryptorchidism, Patent... ORPHA:353281
Melnick-Needles Syndrome
Vesicoureteral reflux, Short stature, Hydronephrosis ORPHA:2484
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Bradycardia OMIM:617248
Pelvis-Shoulder Dysplasia
Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor... ORPHA:2839
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Ascending tubular aorta aneurysm, Vesicoureteral reflux, Intrauterine growth reta... ORPHA:453499
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Renal hypoplas... ORPHA:1896
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Cryptorchidism, Intrauterine growth retardation, Ureteropelvi... OMIM:617557
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arteriosus, ... OMIM:312870
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Intellectual Disability, Buenos-Aires Type
Short stature, Hydronephrosis ORPHA:3079
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Short stature, Valvular pulmonary stenosis, Vesicouretera... OMIM:300707
Mosaic Trisomy 8
Short stature, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux, Decreased testicular size ORPHA:96061
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentr... OMIM:222700
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Cryptorchidism, Ascending tubular ... ORPHA:444072
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... ORPHA:2322
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithi... OMIM:301066
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Prolonged neonatal jaundice ORPHA:226307
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Pulmonary artery stenosis, Pa... ORPHA:2255
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... ORPHA:117
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retardation... OMIM:261540
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Patent ductus arteriosus, Hypoplastic aorti... OMIM:306955
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Postnatal growth retard... ORPHA:96191
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis... ORPHA:906
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Growth delay, Hyd... ORPHA:2995
Apert Syndrome
Overriding aorta, Acne, Cryptorchidism, Rhizomelic arm shortening, Chronic otitis media, Hydronep... OMIM:101200
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... ORPHA:79403
Tarp Syndrome
Cryptorchidism, Horseshoe kidney, Intrauterine growth retardation, Tetralogy of Fallot, Persisten... ORPHA:2886
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Vesicoureteral reflux, Micro... OMIM:618653
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Hyp... OMIM:616580
Trisomy 18
Short stature, Abnormality of the upper urinary tract, Cryptorchidism, Growth delay, Intrauterine... ORPHA:3380
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Growth delay, Periodontitis, Type I diabetes mellitus, Moderate albu... OMIM:619269
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
3Mc Syndrome 1
Conjunctival telangiectasia, Supernumerary nipple, Postnatal growth retardation, Patent ductus ar... OMIM:257920
Occipital Horn Syndrome
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Abnormal aortic morphology, Di... ORPHA:1507
Steinert Myotonic Dystrophy
Brain neoplasm, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non... ORPHA:273
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Failure to thrive, Overweight, Jaundice, Obesity, Vomiting, Consti... OMIM:619475
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Thakker-Donnai Syndrome
Hydronephrosis, Intrauterine growth retardation, Tetralogy of Fallot, Transposition of the great ... ORPHA:1780
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Otitis media, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, Short stature, Crypt... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Otitis media, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, Short stature, Crypt... ORPHA:353277
Atresia Of Urethra
Renal dysplasia, Pulmonary insufficiency, Renal insufficiency, Recurrent urinary tract infections... ORPHA:105
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis ORPHA:254528
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Anomalous pulmonary venous return, Intrauter... ORPHA:555874
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du... OMIM:604292
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, C... ORPHA:567
Robinow Syndrome, Autosomal Recessive 1
Short stature, Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract ... OMIM:268310
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Teebi-Shaltout Syndrome
Ureteral stenosis, Short stature, Horseshoe kidney, Aortic valve stenosis, Hydronephrosis OMIM:272950
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Neop... ORPHA:793
Gaucher Disease, Type Iiic
Hepatomegaly, Cardiomegaly, Splenomegaly, Calcification of the aorta, Mitral stenosis OMIM:231005
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Charge Syndrome
Aortic arch aneurysm, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus ... ORPHA:138
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta OMIM:619480
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Postnatal growth retardation, Patent ductus arteriosus, T... ORPHA:487796
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Bilateral cryptorchidism, Patent ductus arteriosus, Growth de... OMIM:616268
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Short stature, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiom... ORPHA:480880
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia OMIM:619482
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Absent nipple OMIM:104350
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Growth delay, Short stature, Dysuria ORPHA:101000
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c... ORPHA:50918
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Constipation, Hepatic steatosis, Gastroesophageal reflux OMIM:619934
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ... ORPHA:391665
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Short stature, Renal hypoplasia/aplasia, Schwannoma, Abnormal renal morphology, Ossify... ORPHA:363700
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Short stature ORPHA:44
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Short stature, Cryptorchidism, Dilatation of the renal pelvis, Stage... ORPHA:2044
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A... ORPHA:904
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du... OMIM:129900
Ogden Syndrome
Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis, Jaundice, Cryptorc... OMIM:300855
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Growth delay, Vesicoureteral reflux, Hydronephrosis, Aortic... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Growth delay, Vesicoureteral reflux, Hydronephrosis, Aortic... ORPHA:352665
Campomelic Dysplasia
Short stature, Hydronephrosis ORPHA:140
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... ORPHA:709
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... OMIM:192350
Okamoto Syndrome
Ureteropelvic junction obstruction, Urinary incontinence, Splenomegaly, Unilateral renal hypoplas... ORPHA:2729
Robinow Syndrome
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Coarctation of aorta, Pulmonic steno... ORPHA:97360
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated he... OMIM:300868
Cousin Syndrome
Disproportionate short stature, Rhizomelia, Hydronephrosis OMIM:260660
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Cryptorchid... OMIM:619522
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Hydroureter, Severe short stature, Eczema, Abnormality of the kidney, Abnormality o... ORPHA:2273
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Short stature, Ectopic kidney, Postnatal growth retardation, Cryptorchi... OMIM:135900
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Melnick-Needles Syndrome
Ureteral stenosis, Stillbirth, Recurrent otitis media, Pulmonary arterial hypertension, Hydroneph... OMIM:309350
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Charge Syndrome
Hypoparathyroidism, Overriding aorta, Renal agenesis, Decreased response to growth hormone stimul... OMIM:214800
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Abdominal mass, Cystic renal dysplasia OMIM:615989
Floating-Harbor Syndrome
Hypospadias, Short stature, Cryptorchidism, Atopic dermatitis, Glandular hypospadias, Coarctation... OMIM:136140
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardat... OMIM:236680
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Short stature, Postnatal growth ... OMIM:147920
Chime Syndrome
Abnormality of the kidney, Acute leukemia, Transposition of the great arteries, Tetralogy of Fall... ORPHA:3474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Decreased serum iron, Cryptorchidism, Patent ductus arteriosus, Anomalous origin o... ORPHA:438213
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Growth delay, Neurogenic bladder OMIM:616973
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
White-Kernohan Syndrome
Recurrent otitis media, Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Al-Gazali Syndrome
Recurrent pneumonia, Hydronephrosis OMIM:609465
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Short stature, Arterial tortu... OMIM:619472
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis,... ORPHA:2363
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Cryptorchidism, Nephrot... OMIM:601776
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lu... OMIM:212093
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Neurobl... ORPHA:506358
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Epispadias, Vesicovagi... OMIM:258040
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology, Abnormal urine alpha-k... ORPHA:31
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Growth delay ORPHA:1826
Mowat-Wilson Syndrome
Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R... ORPHA:2152
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Skin rash, Protei... ORPHA:761
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... ORPHA:2636
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Focal Dermal Hypoplasia
Ureteral duplication, Laryngeal papilloma, Short stature, Supernumerary nipple, Cryptorchidism, H... OMIM:305600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Pulmonary artery sling, Urinary incontinence, Short st... ORPHA:261537
Robinow Syndrome, Autosomal Dominant 1
Short stature, Rhizomelia, Cryptorchidism, Right ventricular outlet tract obstruction, Micropenis... OMIM:180700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R... ORPHA:261552
Otopalatodigital Syndrome, Type Ii
Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Stillbirth, Dilatation ... OMIM:304120
Knobloch Syndrome 1
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... OMIM:267750
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Campomelic Dysplasia
Disproportionate short-limb short stature, Neonatal short-limb short stature, Hypospadias, Hydron... OMIM:114290
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Nephrocalcinosis, Abnorma... ORPHA:79500
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Monosomy 22Q13.3
Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal... ORPHA:48652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con... OMIM:615287
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Short stature, Hypoplastic pulmonary veins, Absent pulmonary artery, Hydronephrosis OMIM:610682
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Vasculitis, Recurrent pneumonia... OMIM:617718
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... ORPHA:1467
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia, Recurrent pneumonia, Eczema OMIM:620330
Mesomelia-Synostoses Syndrome
Mesomelic short stature, Hydronephrosis OMIM:600383
Genitopatellar Syndrome
Cryptorchidism, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis ORPHA:209959
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pex1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pex1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of functional peroxisomes leads to increased mitochondrial biogenesis and reduced autophagy that preserve mitochondrial function. Cellular and molecular life sciences : CMLS (June 2023) Pex16tm1a(EUCOMM)Hmgu PMC10281899
Peroxisome-derived lipids regulate adipose thermogenesis by mediating cold-induced mitochondrial fission. The Journal of clinical investigation (January 2019) Pex16tm1a(EUCOMM)Hmgu 30511960

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pex1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele Mice, ES Cells
Pex1tm1e.1(EUCOMM)Hmgu Promoter excision from Targeted, non-conditional allele Mice
Pex1tm46430(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pex1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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