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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body 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
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly OMIM:601539
Zellweger Syndrome
Hepatic failure, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Short stature, Hep... ORPHA:912
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cryptorchidism, Prolonged neonatal jaundice, Hydronephrosis, Albuminuria, Hepatome... OMIM:214100
Infantile Refsum Disease
Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhythmia, Hepatomegaly, Short... ORPHA:772
Neonatal Adrenoleukodystrophy
Short stature, Abnormality of the liver 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, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El... OMIM:613812
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:369
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomy... OMIM:232400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... OMIM:232700
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dy... OMIM:208540
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... OMIM:231530
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Atrial Fibrillation, Familial, 15
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... OMIM:615770
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Nephropathy, Chronic kidney disease, Elevated circulating hepatic tran... OMIM:602114
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Coronary artery atherosclerosis, Hypertension... OMIM:608600
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Decreased activity of mitochondrial ... OMIM:251880
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Retinal detachment, Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas... OMIM:619048
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hypertriglyceridemia, ... ORPHA:280356
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... OMIM:201475
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Combined Oxidative Phosphorylation Deficiency 1
Cholestasis, Decreased activity of mitochondrial ATP synthase complex, Intrauterine growth retard... OMIM:609060
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria, Eczematoid dermatitis OMIM:176090
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Chilbl... OMIM:619858
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi... OMIM:301068
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... OMIM:267010
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans... ORPHA:100093
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper... OMIM:619111
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function ORPHA:306550
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepatomegaly, Porta... ORPHA:264580
Joubert Syndrome 6
Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis OMIM:610688
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hyperc... OMIM:615703
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature ORPHA:172
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Fanconi-Bickel Syndrome
Nephropathy, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated ... ORPHA:2088
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Glucose... OMIM:615630
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr... ORPHA:3156
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Renal cyst, Cirrhosis, ... OMIM:602579
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Meckel Syndrome, Type 6
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... OMIM:612284
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Hyperthreoninemia, Increased serum bile acid concentration, Cirrhosis, Elevat... OMIM:605814
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Recurrent hypoglycemia, Cholestasis, Acute hepatic fail... OMIM:256810
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, E... ORPHA:26791
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased activity o... OMIM:615158
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep... OMIM:105200
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Abnormality of e... ORPHA:79230
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:541423
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... OMIM:216360
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Meckel Syndrome, Type 2
Renal cyst, Intrauterine growth retardation, Bile duct proliferation OMIM:603194
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Long penis, Cholestasis, Hyperglycemia, Hyperinsuli... OMIM:246200
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Galactose Mutarotase Deficiency
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... ORPHA:570422
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Hepatomegaly, Bradycardia OMIM:618235
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Stroke, Hepatitis ORPHA:444463
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Decreased liver function, Abnorma... ORPHA:79319
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa... OMIM:212138
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Mic... OMIM:203700
Meckel Syndrome, Type 4
Renal cyst, Intrauterine growth retardation, Bile duct proliferation OMIM:611134
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Laurence-Moon Syndrome
Renal insufficiency, Type II diabetes mellitus, Congenital hepatic fibrosis, Displacement of the ... ORPHA:2377
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... OMIM:261515
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Diarrhea 13
Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to th... OMIM:620357
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hematologic... ORPHA:101330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Hypoglycemia, Herpes simplex encephalitis, Recurrent aphthous stomatitis... OMIM:233600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Dilatation of the renal pelvis, Cholestasis, Dark urine... OMIM:619534
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia OMIM:619175
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased... OMIM:613658
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Reduced circulating alpha-1-antitrypsin concentration, Hepat... ORPHA:60
Mody
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pan... ORPHA:552
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Decreased distal sensory nerve action potential, Elevated circul... OMIM:618400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:616629
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Hyperglyc... ORPHA:465508
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... ORPHA:449395
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Diarrhea, H... ORPHA:71
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Lambert Syndrome
Cholestasis, Intrauterine growth retardation, Intrahepatic biliary atresia, Jaundice, Hypospadias ORPHA:1296
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Postnatal growth retardation, Hyperbiliru... OMIM:227810
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi... OMIM:613610
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Type I diabetes mellitus, Elevated circulating hepatic transaminase concent... OMIM:619525
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... ORPHA:186
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Maturity-onset diabetes of the young, Hyperglycemia, Intrauter... ORPHA:99886
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine ... ORPHA:26792
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, T... OMIM:616589
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Ketonuria, Hypoglycemia, Acute hepatic f... OMIM:615453
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me... OMIM:613370
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Gastrointestinal hemorrhage, Intrauterine growth retardation, Portal hypertensi... OMIM:617341
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Obesity Due To Prohormone Convertase I Deficiency
Growth delay, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Growth delay, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemi... ORPHA:71526
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Hyperbilirubinemia,... OMIM:615710
Nephronophthisis 18
Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c... OMIM:615862
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Glomer... OMIM:619487
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Intrauter... OMIM:606003
Congenital Isolated Acth Deficiency
Hypotension, Hepatitis, Prolonged neonatal jaundice, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg... ORPHA:91138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:208085
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Foam cells with lamellar inclusion bodies, Splenomegaly,... OMIM:607616
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Glycogen Storage Disease Iv
Hepatic failure, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Bradycardia OMIM:232500
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver ORPHA:1980
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... OMIM:203800
Leigh Syndrome, Nuclear
Hepatocellular necrosis OMIM:256000
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Decreased liver function, Elevated circulating hepatic transamin... OMIM:616299
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnormality o... ORPHA:848
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin... OMIM:124000
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation,... OMIM:610199
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Atherosclerosis, Hy... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Abnormal m... OMIM:618378
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Hepatitis, Fulminant Viral, Susceptibility To
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatic failur... OMIM:618549
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Cholestasis, Dilatation of the cerebral artery,... ORPHA:615
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating... OMIM:615980
Hyperbiliverdinemia
Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd... OMIM:614156
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... OMIM:302060
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, R... OMIM:264470
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkaline phosphatase concent... ORPHA:275761
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat... ORPHA:53693
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Palpitations, R... ORPHA:324575
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Fastin... OMIM:201400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Homoc... OMIM:238970
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Cholestasis, Aganglionic megacolon, Weight loss, Low plasm... ORPHA:95427
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin, Multiple renal cysts, Vascular dilatation... ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas ORPHA:2398
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Failure to thrive, Elevated circulating creatinine concentration, Hepa... OMIM:617872
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Hypotension, Cholest... ORPHA:85445
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Growth delay, Hypopitu... ORPHA:231226
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Intrauterine growth retardation, Cirrhosis, Chronic hep... OMIM:614602
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Griscelli Syndrome
Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundic... ORPHA:381
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J... OMIM:230350
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation OMIM:601410
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... OMIM:212065
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran... OMIM:614576
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Elevated amniotic fluid alpha-fetopro... OMIM:249000
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple... OMIM:608971
Mednik Syndrome
Hepatic fibrosis, Cholestasis, Neonatal death, Cirrhosis, Increased circulating very long-chain f... OMIM:609313
Trichohepatoenteric Syndrome 1
Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Aortic regurgitation, Galactosuria, ... OMIM:222470
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Septic arthritis, Congestive heart failure, Osteomyeli... ORPHA:533
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Chole... OMIM:615486
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Acute Liver Failure
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:90062
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Hepatic steatosis, Hydronephrosis, Patent ductus arteriosus OMIM:615996
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Cholestasis, T... OMIM:610205
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico... OMIM:619377
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated... ORPHA:1304
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Neoplasm, Hypocalcemia, Skin rash, Recurrent cutan... ORPHA:47
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Trimethylaminuria
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Nephronophthisis 11
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage... OMIM:613550
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... ORPHA:90065
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Short stature, Mildly elevated creatine kinase ORPHA:457050
Glycogen Storage Disease Ixb
Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepa... OMIM:261750
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Obesity, Hyperbilirubinemia, ... OMIM:609734
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Autosomal Agammaglobulinemia
Bronchiectasis, Verrucae, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivit... ORPHA:33110
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Growth delay, Hypopitu... ORPHA:231214
Legionnaires Disease
Hypotension, Hepatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Hematuria, Pr... ORPHA:549
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... ORPHA:276556
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Propionic Acidemia
Organic aciduria, Cardiomyopathy, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperammone... ORPHA:35
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Postnatal growth retardatio... OMIM:248370
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... OMIM:616263
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Primary Sjögren Syndrome
Vasculitis, Biliary cirrhosis, Arteritis, Lymphoma, Parotitis, Lymphoproliferative disorder, Chro... ORPHA:289390
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia, Abno... OMIM:300438
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... OMIM:262190
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Abnormality of the liver, Decreased activity of mi... ORPHA:254864
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Hyperbilirub... ORPHA:521219
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hypertrigl... OMIM:603552
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Beta-Ketothiolase Deficiency
Hypotension, Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly,... ORPHA:134
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Hepatic steatosis, Caudate atrophy, Cirrhosis, Neuronal loss in central nervous... ORPHA:363400
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... OMIM:194380
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Hepatosple... ORPHA:79333
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Decreased a... OMIM:613561
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Dicarboxyl... OMIM:212140
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a... OMIM:620376
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hypotension, Fetal ascites, Hepatitis, Cardiomyopathy, Cholesta... ORPHA:292
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Q Fever
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Abnorm... ORPHA:781
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... ORPHA:139402
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, T... ORPHA:84064
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Cerebral atrophy, Hepatic steatosis, Hyperprolinemia, Hyperalaninemia OMIM:615918
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Disproportionate short stature, Tetralogy of Fallot, Short stature, Decreased circula... OMIM:222765
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Hepatic steatosis, Bloody diarrhea OMIM:615119
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Tachycardia, Retrobulbar optic neuritis, Intrauterine growth retardation OMIM:619737
Congenital Disorder Of Glycosylation, Type Iik
Growth delay, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Coronary artery athe... ORPHA:79084
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Type II... OMIM:269200
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop... ORPHA:156
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria OMIM:222100
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Renal hypoplasia, Ascites, Renal cyst, Short stature, Polycystic kidney dysplas... OMIM:614091
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly, Aminoaciduria ORPHA:417
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:246900
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Growth delay, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglut... ORPHA:3008
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly OMIM:601539
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Postnatal growth retardatio... OMIM:207800
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Stroke, Hematological ne... ORPHA:1163
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ... OMIM:207900
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubin... OMIM:619991
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Cadds
Elevated circulating hepatic transaminase concentration, Cholestasis, Intrauterine growth retarda... ORPHA:369942
Dyskeratosis Congenita, Autosomal Dominant 1
Budd-Chiari syndrome, Squamous cell carcinoma of the skin, Hepatic necrosis, Interstitial pneumon... OMIM:127550
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Avian Influenza
Hypoalbuminemia, Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concen... ORPHA:454836
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Abnormality of the lower urinary tract, ... ORPHA:679
Mccune-Albright Syndrome
Renal phosphate wasting, Hepatitis, Increased circulating cortisol level, Increased circulating p... ORPHA:562
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Elevated circulating creatinin... ORPHA:36234
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cherr... ORPHA:333
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto ... OMIM:613385
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Mitochondrial swelling, Elevated circulating aspartate ... OMIM:615595
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Pigmentary retinopathy, Failure to thrive OMIM:618234
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Cardiomyopath... ORPHA:157
Enteric Anendocrinosis
Cholestatic liver disease, Type I diabetes mellitus, Portal hypertension ORPHA:83620
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreased activity of... OMIM:614924
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Failure to thrive, Decreased testicular size, Elevated circulating aspartate amino... OMIM:610198
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... OMIM:618805
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep... ORPHA:263297
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate... OMIM:255120
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Multiple myeloma, Vasc... ORPHA:91139
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Po... ORPHA:228426
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Recurrent urinary tract infections, Biliary tract abnormality,... OMIM:209920
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... OMIM:224700
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep... OMIM:308230
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Optic disc coloboma, ... ORPHA:92050
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Stage ... OMIM:608612
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Mulibrey Nanism
Hepatomegaly, Intrauterine growth retardation, Short stature ORPHA:2576
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Rena... OMIM:261680
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul... OMIM:600649
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Hepatic steatos... OMIM:243910
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial comp... OMIM:619064
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu... OMIM:230400
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... ORPHA:5
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c... OMIM:500009
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... ORPHA:90003
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... OMIM:232200
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Bradycard... OMIM:617397
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Abnormal circulating enzyme concentration or ... ORPHA:79237
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Hydronephrosis, Micropenis, Hepatomegaly, Short stature OMIM:619185
Wolman Disease
Acute hepatic failure, Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly OMIM:620151
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis... OMIM:619386
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Arrhythmia, Reduced tissue carnitine O-p... ORPHA:228308
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Renal i... OMIM:613861
Spondyloenchondrodysplasia
Chronic kidney disease, Vasculitis, Pneumonia, Hepatitis, Decreased response to growth hormone st... ORPHA:1855
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis ORPHA:2031
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Dec... OMIM:620646
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Exocrine p... OMIM:619418
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestasis with ... OMIM:211600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... OMIM:609812
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Reynolds Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613471
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Elevated circulating hepatic transaminase concentration, Intrauteri... OMIM:301056
Ddost-Cdg
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:300536
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Medial calcification of large arteries, Hepatosplenomegaly,... ORPHA:391487
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hypotension, Pituitary adenoma, Hepatitis, Hypoglycemia, Hyperuricemia,... ORPHA:199299
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Alagille Syndrome
Peripheral pulmonary artery stenosis, Cholestasis, Abnormality of the ureter, Intrauterine growth... ORPHA:52
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Hypoglycemia, Decreased liver function, Congestive heart failure, Elevated circulat... OMIM:608779
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Art... OMIM:304790
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Prominent veins on trunk, Atherosclerosi... ORPHA:79083
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Lichen Planopilaris
Hepatitis, Neoplasm of the oral cavity ORPHA:525
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hypospadias, Cryptorchidism OMIM:175700
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Ascites, Abnormal glucose homeostasis, Hyponatremia, Peritonit... ORPHA:391673
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hypercholesterolemia, Hypert... ORPHA:528
Macdermot-Winter Syndrome
Hydronephrosis, Intrauterine growth retardation OMIM:247990
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cryptorchidism, Eleva... OMIM:615381
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Abnormal circulating porphyrin c... ORPHA:79278
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased motor nerve conduction velocit... ORPHA:298
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly OMIM:607685
Dysbetalipoproteinemia
Acute pancreatitis, Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentr... ORPHA:412
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:601847
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Hepatic fibrosis, Dilated cardiomyopathy, Short stature OMIM:613989
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Mitral... OMIM:614866
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Postnatal growth retar... ORPHA:1655
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Illum Syndrome
Bradycardia OMIM:208155
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Hypoketotic hypog... ORPHA:746
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Muckle-Wells Syndrome
Nephropathy, Vasculitis, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcl... ORPHA:575
Alagille Syndrome 1
Cholestasis, Cirrhosis, Duplicated collecting system, Renal dysplasia, Focal segmental glomerulos... OMIM:118450
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Abnormal circulating lipid concentration, Polycystic ovaries OMIM:608709
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi... ORPHA:234
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Growth delay ORPHA:100025
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... OMIM:614859
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Biliar... OMIM:209900
Immunodeficiency 54
Chromosome breakage, Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly,... OMIM:609981
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increas... OMIM:215600
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr... OMIM:266150
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Rhizomelia, Cholestasis, Hepatosplenomeg... OMIM:266920
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Hepatitis, Eczematoid dermatitis, Intrauterine g... OMIM:620565
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Hyperaldosteronism,... ORPHA:508
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Postnatal growth retardation, Sp... OMIM:620603
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Type II diabetes mellitus, Hepatic s... ORPHA:110
Melioidosis
Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen... ORPHA:31202
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Postnatal growth retardation, Splenomegaly, Coarctation of ao... OMIM:620210
Atypical Werner Syndrome
Aortic valve stenosis, Neoplasm of the skin, Insulin-resistant diabetes mellitus, Neoplasm of the... ORPHA:79474
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Abnormal mitochondrial shape, Elevated circulating hepatic transaminase ... ORPHA:17
Late-Onset Familial Hypoaldosteronism
Vomiting, Failure to thrive, Postnatal growth retardation, Hyponatremia, Elevated serum 11-deoxyc... ORPHA:556037
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Short stature, Splenomegaly ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Hepatomegaly, Breast carcinoma ORPHA:86893
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the spleen, Abnormality of the liver, Abnormali... ORPHA:1834
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly ORPHA:435651
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Vomiting, Failure to thrive in infancy, Increased circulating renin level, Propor... ORPHA:171876
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Portal hyp... ORPHA:974
Glycogen Storage Disease Ib
Inflammation of the large intestine, Reduced hepatic glucose-6-phosphate translocase activity, Xa... OMIM:232220
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Elevated circulating hepatic transaminase c... OMIM:620005
Diffuse Neonatal Hemangiomatosis
Ascites, Visceral angiomatosis, Renal insufficiency, Renal hypoplasia/aplasia, Hemangiomatosis, H... ORPHA:2123
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:881
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Type I diabetes mellitus, Cholelithiasis, Nephrocalcinosis, Chronic mucocutan... OMIM:240300
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Central nervous system degeneration, Mic... ORPHA:98907
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Vasculitis, Hepatic failure, Lymphoma, Splenomegaly, Infectious encephalitis, El... OMIM:308240
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia, Growth delay OMIM:204000
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... ORPHA:97283
Shigellosis
Pneumonia, Hypovolemic shock, Hepatic failure, Acute kidney injury, Uveitis, Conjunctivitis, Hypo... ORPHA:810
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Recurrent otitis media, Elevated circulating aspartate aminot... OMIM:615559
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Vasculitis, Pneumonia, Hematochezia, Atopic dermatitis, Hepatitis, Increased ... OMIM:615846
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr... OMIM:300752
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Obesity And Hypopigmentation
Obesity, Hepatic steatosis OMIM:620195
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... OMIM:614377
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Diarrhea, Pituitary adenoma, Increased circulating cort... ORPHA:97278
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Scorpion Envenomation
Hyperglycemia, Premature ventricular contraction, Arrhythmia, Tachycardia, Acute kidney injury, I... ORPHA:466677
Early-Onset Familial Hypoaldosteronism
Vomiting, Failure to thrive, Postnatal growth retardation, Hyponatremia, Elevated serum 11-deoxyc... ORPHA:556030
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Hepatom... OMIM:613327
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine growth retardation... ORPHA:858
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Hepat... ORPHA:2348
Erythroleukemia, Familial, Susceptibility To
Leukemia, Splenomegaly, Acute myeloid leukemia, Hepatomegaly, Refractory anemia with ringed sider... OMIM:133180
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Hematuria, Cirrhosis, Hepatomegaly, Multiple myeloma, Elevated... ORPHA:77259
Tangier Disease
Decreased HDL cholesterol concentration, Atherosclerosis, Splenomegaly, Coronary artery atheroscl... OMIM:205400
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ... OMIM:619433
Seckel Syndrome 10
Severe short stature, Elevated circulating luteinizing hormone level, Elevated circulating aspart... OMIM:617253
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Intrauterine growth retard... OMIM:618958
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Fanconi Anemia, Complementation Group O
Chromosome breakage, Stage 5 chronic kidney disease, Cryptorchidism, Neonatal death, Hydronephros... OMIM:613390
Sialuria
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Abno... ORPHA:3166
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Hypocalcemia, Cryptorchidism... OMIM:235255
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Bradycardia ORPHA:226313
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo... OMIM:614887
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Glycosuria, Pancreatic hypoplasia, Tetralogy of Fallot, Hyperglycemia, I... OMIM:600001
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Hepatic steatosis, Dysphagia ORPHA:70472
Schnitzler Syndrome
Vasculitis, Lymphoma, Skin rash, Splenomegaly, Arthritis, Hepatomegaly ORPHA:37748
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Hepatitis, Ascites, Splenomegaly, Mucopolysacchariduria ORPHA:584
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... OMIM:232800
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Decreased activity of mitoc... OMIM:614299
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... ORPHA:97261
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia, ... OMIM:619063
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Elevated circulating creatine kinase concentration, Delayed puberty, Hepatomegaly, Gr... OMIM:615704
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Elevated c... ORPHA:1667
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retar... OMIM:269880
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Reduced C-peptide level... OMIM:606176
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Hepatomegaly, Jaun... OMIM:612714
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Babesiosis
Hepatic failure, Congestive heart failure, Renal insufficiency, Splenomegaly, Hepatomegaly, Jaund... ORPHA:108
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Postnatal growth retardation, Cryptorchidism, Hydronephrosis, Double outlet ... OMIM:179613
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Bradycardia ORPHA:95716
Diabetic Embryopathy
Tetralogy of Fallot, Cryptorchidism, Abnormal aortic morphology, Renal hypoplasia/aplasia, Hydron... ORPHA:1926
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c... OMIM:619463
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatic steatosis, Hodgkin lymphoma, Eleva... OMIM:619573
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Hypersplenism, Hodgkin lymphoma, Glomerulonephritis, Basal cell carcinoma, ... ORPHA:3261
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis, Raynaud phenomenon ORPHA:589
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Growth delay, Steat... ORPHA:75233
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... ORPHA:1677
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Type I diabetes mellitus, Biliary ... ORPHA:227990
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating lactate dehydrogenase co... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intrauterine growth reta... OMIM:617713
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Gm1-Gangliosidosis, Type Iii
Cherry red spot of the macula, Splenomegaly, Decreased beta-galactosidase activity, Foam cells, H... OMIM:230650
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Postnatal growth retardation, Intra... ORPHA:83617
Cat-Eye Syndrome
Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Short stature, Abnorma... ORPHA:195
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Renal insu... ORPHA:728
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Elevated circulating creatine kinase concentration, Polycystic ovaries, Hypert... ORPHA:435660
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Periportal fibrosis, Ascites, Hamartoma of tongue, Intrauterine growth retardat... OMIM:269860
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Decreased liver function, ... ORPHA:231222
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Zellweger Syndrome
Hepatic failure, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Short stature, Hep... ORPHA:912
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Pancre... ORPHA:99885
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Growth delay, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retardat... ORPHA:1194
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall... ORPHA:887
Chronic Mucocutaneous Candidiasis
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Cheilitis ORPHA:1334
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Elevated creatine kinase after exercise ORPHA:352470
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Type I diabetes mellitus, Biliary ... ORPHA:227982
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Intraute... OMIM:266200
Bardet-Biedl Syndrome 9
Hyperglycemia, Renal insufficiency OMIM:615986
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Hematuria, Abnormal circulating protein concentration, Glom... ORPHA:48435
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Chronic kidney disea... OMIM:218330
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent urinary tract infections, Decreased response to growth hormone stimulation t... OMIM:307200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Hepatic steatosis, Abnormal motor neuro... ORPHA:52430
Meckel Syndrome 14
Tricuspid regurgitation, Hepatic fibrosis, Polycystic kidney dysplasia, Mitral regurgitation OMIM:619879
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Growt... ORPHA:289916
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Cirrhosis, Elevated ju... ORPHA:57777
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Hypog... OMIM:232240
Congenital Rubella Syndrome
Type I diabetes mellitus, Intrauterine growth retardation, Splenomegaly, Skin rash, Hepatomegaly,... ORPHA:290
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Decreased circulating beta-... ORPHA:572
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis, Chronic diarrhea, Steatorrhea ORPHA:309108
8P23.1 Duplication Syndrome
Hydronephrosis, Tetralogy of Fallot, Exostoses, Pulmonic stenosis ORPHA:251076
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Zygomycosis
Pustule, Hematological neoplasm, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemor... ORPHA:73263
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Dilation of Virchow-Ro... OMIM:615273
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Insulin-resistant d... ORPHA:769
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Cardiomegaly, Hepa... OMIM:618278
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Psorias... ORPHA:436252
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... OMIM:619644
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate... ORPHA:367
Microphthalmia, Syndromic 9
Severe short stature, Renal hypoplasia, Multilobulated spleen, Right aortic arch with mirror imag... OMIM:601186
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Renal cyst OMIM:213300
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Orofaciodigital Syndrome I
Hepatic fibrosis, Hamartoma of tongue, Hepatic cysts, Ovarian cyst, Proteinuria, Hypertension, Hy... OMIM:311200
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia OMIM:620423
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Colon cancer, Pancre... ORPHA:1333
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Kawasaki Disease
Hypoalbuminemia, Vasculitis, Sterile pyuria, Hepatitis, Conjunctivitis, Double outlet right ventr... ORPHA:2331
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ... OMIM:613489
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Cuta... OMIM:606812
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Myeloproliferative disord... ORPHA:3260
Mu-Heavy Chain Disease
Hepatomegaly, Nephropathy, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Hyperammonemia, Splenomegaly, Stroke, Pancreatitis, Hepatome... ORPHA:79312
Glucagonoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... ORPHA:97280
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Hepatitis, Melena, Maculopapular exanthema, Acute pancreatitis ORPHA:319218
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Eczematoid dermatitis, ... OMIM:606054
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hydronephrosis, Short stature... ORPHA:2315
Johanson-Blizzard Syndrome
Elevated gamma-glutamyltransferase level, Cryptorchidism, Elevated circulating alanine aminotrans... OMIM:243800
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi... OMIM:614886
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Obesity, Hyperlipidemia, Hepatic steatosis, Cryptorchidism ORPHA:254346
Gaucher Disease, Type Iii
Vascular calcification, Splenomegaly, Decreased beta-glucocerebrosidase level, Hepatomegaly, Shor... OMIM:231000
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis OMIM:269840
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov... ORPHA:79259
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated circulating hepatic transaminase concentration, Increased circulating prolactin concentr... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Hepatic steatosi... OMIM:614922
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... ORPHA:681
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Tricuspid regurgitation, Left ventricula... OMIM:619167
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... OMIM:614872
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Lymphoma, Recurrent otitis media, Neoplasm, Splenomegaly, Recurrent sinusiti... OMIM:240500
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Ascite... ORPHA:100086
Spastic Paraplegia Type 7
Urinary urgency, Abnormal mitochondrial morphology ORPHA:99013
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Sulfite oxidase... ORPHA:3467
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Supernumerary nipple, Elevated circulating creatinine concentration... OMIM:614376
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cherry red spot of the macula, Cardiomyopathy, ... OMIM:256550
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly OMIM:224100
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Tubulointerstitial f... ORPHA:85450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Decreased activity of mitochondrial ATP synthase complex, 3-Meth... OMIM:604273
Hurler-Scheie Syndrome
Cardiomyopathy, Splenomegaly, Hepatomegaly, Rhinitis, Short stature ORPHA:93476
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype... ORPHA:2414
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co... ORPHA:355
Image Syndrome
Hydronephrosis, Intrauterine growth retardation, Hypospadias, Cryptorchidism ORPHA:85173
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia, Neonatal death, Micropenis, Hepatomegaly, Hydro... OMIM:618810
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Splenomegaly, Hepatomegaly, Jaundice, Short stature OMIM:615631
Glycogen Storage Disease Xii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch... OMIM:611881
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Hyperaldosteronism, Macronodular adrenal... ORPHA:189427
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Niemann-Pick Disease, Type A
Cherry red spot of the macula, Ascites, Elevated circulating aspartate aminotransferase concentra... OMIM:257200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro... ORPHA:293173
Leptospirosis
Acute kidney injury, Hypotension, Subconjunctival hemorrhage, Hepatitis, Uveitis, Pulmonary hemor... ORPHA:509
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Intrauterine growth retardation, Psoriasiform dermatitis, Interface hepatitis, Hypo... OMIM:243150
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Aromatase Deficiency
Obesity, Eunuchoid habitus, Hepatic steatosis, Cryptorchidism, Hyperlipidemia, Enlarged polycysti... ORPHA:91
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Infectious encephalitis ORPHA:42642
Sepsis In Premature Infants
Hypotension, Decreased liver function, Splenomegaly, Jaundice, Bradycardia, Hepatomegaly, Tachyca... ORPHA:90051
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux, Short stature ORPHA:85285
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Intrauterine growth reta... OMIM:214110
Cat Eye Syndrome
Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney, Tetralogy of Fallot, V... OMIM:115470
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma, Type II diabetes mellitus, Cryptor... ORPHA:99812
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Tricuspid regurgitation, Hamartoma of tongue, Pancreatic fibrosis, Micropenis, ... OMIM:263520
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Severe intrauterine growth retardation, Diabe... OMIM:609069
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Elevated circulating creatine kinase concentration, Biliary atresia ORPHA:565899
Ileal Neuroendocrine Tumor
Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu... ORPHA:100078
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Tarp Syndrome
Hepatic failure, Subdural hemorrhage, Horseshoe kidney, Tetralogy of Fallot, Intrauterine growth ... OMIM:311900
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Elevated uri... OMIM:266510
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cryptorchidism, Prolonged neonatal jaundice, Hydronephrosis, Albuminuria, Hepatome... OMIM:214100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Bilateral superior vena cava, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia... OMIM:220111
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Congenital Myopathy 19
Hydronephrosis, Renal atrophy, Cryptorchidism OMIM:618578
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperammonemia, 3-Methylgl... ORPHA:254913
Temporal Arteritis
Retinal arteritis OMIM:187360
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Recurrent urinary tract infections, Hypocalcemic tetany, Aplasi... ORPHA:83471
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Hypoglycemia, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperglycin... OMIM:251000
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pro... OMIM:251110
Aredyld Syndrome
Type I diabetes mellitus, Abnormality of the ureter, Intrauterine growth retardation, Type II dia... ORPHA:1133
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... OMIM:137920
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:609757
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hepatosplenomegaly, Splenomegaly, Cryptorchidism, Mitral regu... OMIM:612541
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Azoospermia, Splenomegaly, Elevated hepatic iron co... OMIM:615234
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis, Increased circulating chylomicron concentration, Splen... OMIM:615947
Hypocomplementemic Urticarial Vasculitis
Uveitis, Lymphoma, Ascites, Renal insufficiency, Splenomegaly, Episcleritis, Skin rash, Hematuria... ORPHA:36412
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
Pearson Syndrome
Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoparathyroidi... ORPHA:699
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f... OMIM:603553
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus, Cryptorchidism OMIM:619797
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Atrioventricular block,... ORPHA:398124
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Vasculitis, Increased serum zinc, Skin rash OMIM:601979
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Neurofibroma
Intestinal bleeding, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neurofibrom... ORPHA:252183
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Neonatal death, Stillbirth, Hepatomegaly, Intracranial h... ORPHA:85212
Takayasu Arteritis
Arteritis OMIM:207600
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Hepatomegaly, Chronic oral c... OMIM:300400
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Lymphoma, Ascites, Hepatosplenomegaly, Splenomegaly, EBV encephalitis, Hodgk... OMIM:615122
Adrenomyodystrophy
Short stature, Hepatic steatosis, Failure to thrive ORPHA:977
Transketolase Deficiency
Increased level of ribose in urine, Type I diabetes mellitus, Elevated circulating ribitol concen... ORPHA:488618
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Decreased activity of mitochondrial complex I, Hydroureter OMIM:618240
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, Palpitations, Hyp... ORPHA:565612
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Infantile Refsum Disease
Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhythmia, Hepatomegaly, Short... ORPHA:772
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Mosaic Trisomy 9
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Patent ductus ... ORPHA:99776
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Rhizomelia, Tricuspid regurgitation, Hepatic cyst... ORPHA:79328
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Fish-Eye Disease
Atherosclerosis, Splenomegaly, Angina pectoris, Decreased HDL cholesterol concentration, Hepatome... ORPHA:79292
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax... ORPHA:99827
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Cholestasis, Tricuspid regurgitation, Recurrent otitis media, Pulmonary arterial hypertension, He... OMIM:620233
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Hyperinsul... ORPHA:64
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Hydronephrosis, Abnormal... ORPHA:873
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Lymphoma, Splenomegaly, Hepatomegaly, Lymphoproliferative disorder OMIM:614470
Cockayne Syndrome Type 3
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic... ORPHA:90324
Isolated Complex I Deficiency
Proximal tubulopathy, Hypoglycemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation,... ORPHA:2609
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly ORPHA:66661
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent sinusitis, Hepato... OMIM:607594
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Renal insufficiency, Hyperammonemia, Pancreatitis, Hepatomegaly ORPHA:27
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Prolonged bleeding time, Splenomegaly, Hepatomegaly, Intracranial hemorrhage, Mye... ORPHA:3226
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Postnat... ORPHA:75249
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Facial capillary hemangioma, Hepatic steatosis, Cryptorchidism, Cirrhosis... OMIM:270400
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Deep dermal perivascular inflammatory i... ORPHA:49041
Bloom Syndrome
Chromosome breakage, Facial telangiectasia in butterfly midface distribution, Abnormality of chro... OMIM:210900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Cryptorchidism, Hydronephros... OMIM:618494
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral ... OMIM:616672
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Growth delay, Intrauterine growth retardation, Reduced renal corticomedullary differentiation, Sp... OMIM:618541
Acute Disseminated Encephalomyelitis
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis ORPHA:83597
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Lymphocytic interstitia... OMIM:618495
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Lujo Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Shock, Bradycardia, Myocard... ORPHA:319213
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Vomiting, Acute hepatic steatosis, Failure to thrive OMIM:210200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Type I diabetes mellitus, Inflammation of the large intestine, Ato... ORPHA:436159
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... OMIM:235700
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d... OMIM:300842
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Trisomy 13
Capillary hemangioma, Abnormality of the ureter, Intrauterine growth retardation, Cryptorchidism,... ORPHA:3378
Pallister-Hall Syndrome
Cryptorchidism, Neonatal death, Micropenis, Ectopic kidney, Patent ductus arteriosus, Renal dyspl... OMIM:146510
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Capillary hemangioma, Hyperbilirubinemia, Absent gallbladder, Hypocalcem... ORPHA:163979
Indolent Systemic Mastocytosis
Elevated total serum tryptase, Skin rash, Splenomegaly, Hepatomegaly, Maculopapular exanthema ORPHA:98848
Reynolds Syndrome
Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, Telangiectasi... ORPHA:779
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Hepato... ORPHA:85414
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Elevated circulating creatine kinase conc... ORPHA:352447
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... OMIM:613470
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy, Vomiting, Failure to thrive, Decreased liver function, Hep... ORPHA:436271
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Craniofacioskeletal Syndrome
Interrupted aortic arch, Intrauterine growth retardation, Absent gallbladder, Hypocalcemia, Crypt... OMIM:300712
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Glomerulonephritis, Hepatomegaly, Thyroiditis OMIM:619375
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Thoracic aortic aneurysm, Abnormal common car... ORPHA:449400
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Tetralogy of Fallot, Decreased response to growth hormone stimulation test... OMIM:220210
D-Glyceric Aciduria
Bradycardia OMIM:220120
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Increased circulating cortiso... ORPHA:97287
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Annular pancreas, Tetralogy of Fallot, Absent gallbladder, Hydronephrosis,... ORPHA:210122
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Sple... OMIM:619381
Granulomatosis With Polyangiitis
Hematuria, Prostatitis, Arrhythmia, Inflammatory abnormality of the eye, Elevated circulating C-r... ORPHA:900
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Hyperbilirubinemia, Gout, Splenomegaly, Hepatomegaly,... ORPHA:822
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Facial telangiectasia, Short stature, Pulmonic stenosis OMIM:620141
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Tetralogy of Fallot, Cryptorchidism, Hydronephrosis, Aplasia/H... ORPHA:96092
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Citrullinemia, Classic
Reduced tissue argininosuccinate synthetase activity, Oroticaciduria, Hyperammonemia, Stroke, Hyp... OMIM:215700
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst... OMIM:616307
Radiation Proctitis
Hematochezia, Arteritis, Abnormal vascular morphology, Abnormal gastrointestinal vascular morphol... ORPHA:70475
Carpenter Syndrome 1
Hydroureter, Polysplenia, Tetralogy of Fallot, Cryptorchidism, Hydronephrosis, Transposition of t... OMIM:201000
Wolfram Syndrome 1
Hydroureter, Growth delay, Cardiomyopathy, Stroke-like episode, Hydronephrosis, Neurogenic bladde... OMIM:222300
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Diabetes mellitus, Hydroureter OMIM:598500
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly, Tachycardia, Cardiac arrest OMIM:277400
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Maturity-onset diabetes of the young,... ORPHA:96149
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Erysipelas, Hepatic amyloidosis, Skin rash, Myositis, Oligoarthritis... OMIM:142680
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Abnormal atrioventricular conduction, Decreased HDL cholesterol concentration... ORPHA:280365
Autoinflammation With Arthritis And Dyskeratosis
Laryngeal papilloma, Corneal neovascularization, Splenomegaly, Punctate keratitis, Keratoconjunct... OMIM:617388
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Bradycardia ORPHA:90673
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Reduced circulating aldolase concentration, Renal insuff... ORPHA:469
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon... ORPHA:94093
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Recurrent otitis media, ... OMIM:300755
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Peritonitis, Arthritis, H... ORPHA:343
Distal Duplication 6P
Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardation, Hydronephro... ORPHA:1745
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hydronephrosis, Cardiomega... OMIM:616897
Aicardi-Goutieres Syndrome 1
Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chilblains, ... OMIM:225750
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Postnatal growth retardation, Intrauterine growth retardation, Renal insufficiency, C... OMIM:611209
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Stroke, Cardiom... OMIM:603903
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis... OMIM:619423
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Abnormality of the splee... ORPHA:79456
Trisomy 17P
Aortic valve stenosis, Growth delay, Intrauterine growth retardation, Hydronephrosis, Short statu... ORPHA:261290
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Intrauterine growth retardation, Decreased activity of mitochondr... OMIM:615578
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Hepatosplenomegaly, Erythema nodosum, Elevated circulating C-reactive pro... OMIM:615688
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensa... ORPHA:85443
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Elevated circulating hepatic transaminase concentration, ... ORPHA:20
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Splenomegaly, Skin rash, Myositis, Sinus... OMIM:617591
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Hepatic steatosis, Pancreatitis, Hyperhomocystinemia OMIM:236200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Hydroureter, Megacystis, Portal hypertension, Hydronephrosis OMIM:619431
Desmoplastic Small Round Cell Tumor
Ascites, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovarian neop... ORPHA:83469
Cerebrotendinous Xanthomatosis
Cholelithiasis, Diarrhea, Cerebellar atrophy, Abnormal circulating cholesterol concentration, Cer... OMIM:213700
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Polysplenia, Hypoglycemia, Supernumerary nipple, Bundl... ORPHA:373
Oculoskeletodental Syndrome
Renal agenesis, Splenomegaly, Hypocalcemia, Cryptorchidism, Lacunar stroke, Mucopolysacchariduria... OMIM:618440
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Intrauterine growth retardation, Hyperammonemia OMIM:610678
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Pulmonary carcinoid tumor, Aortic root aneurysm, Congestive heart failure,... ORPHA:363618
Immunodeficiency 10
Recurrent pneumonia, Hypoglycemia, Recurrent urinary tract infections, Recurrent otitis media, Sp... OMIM:612783
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Interstitial pneumonitis, Splenomegaly, Vasculitis in the skin OMIM:620296
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Pulmonary art... ORPHA:464738
Occipital Horn Syndrome
Hepatitis, Recurrent urinary tract infections, Cholestasis, Esophagitis, Venous insufficiency, Bl... ORPHA:198
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Increased urinary glycerol, Reduced tissue fructose-1,6-bisphosphatase activity, He... OMIM:229700
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Elevated circulating hepatic transaminase concentration, Elevated circulating glut... ORPHA:66634
3C Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Postnatal growth retardation, Hydronephrosis, Facial ... ORPHA:7
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Displacement of the urethral meatus, Hydronephrosis... ORPHA:1727
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Cirrhosis, Vi... ORPHA:774
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Splenomegaly, Sinusitis, Hepatomegaly, Bronchiectasis OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Vasculitis, Splenomegaly OMIM:601859
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Progeria-Short Stature-Pigmented Nevi Syndrome
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Small for gesta... ORPHA:2959
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f... OMIM:160900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Growth delay, Renal artery stenosis, Splenomeg... OMIM:617913
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Splenomegaly, Proteinuria, Synovitis, ... ORPHA:77297
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90037
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Erysipelas, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux... OMIM:235510
Fanconi Anemia, Complementation Group Q
Short stature, Chromosome breakage, Growth delay, Biliary atresia OMIM:615272
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Severe postnatal growth retardation, Erythroderma, Short stature, Neonatal hypogl... ORPHA:35173
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Uveitis, Epistaxis, Congestive heart failure, ... ORPHA:727
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma... ORPHA:314588
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Kleefstra Syndrome
Supernumerary nipple, Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Cryptorchi... ORPHA:261494
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu... OMIM:229600
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hep... OMIM:231670
Dengue Fever
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Ascites, Skin rash, Cerebral hemorrhage, Hep... ORPHA:99828
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Cryptorchidism, Congenital hepatic fibrosis, Uret... ORPHA:564
Cimdag Syndrome
Cholelithiasis, Cerebral atrophy, Pontocerebellar atrophy, Microvesicular hepatic steatosis, Hepa... OMIM:619273
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Boutonneuse Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Skin ra... ORPHA:83313
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Pericarditis, Congestive heart failure ORPHA:163596
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy OMIM:619053
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Juxtaductal coarctation of the aorta, Intra... ORPHA:3310
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Skin rash, Hydronephrosis, Erythroderma, Short stature, Ect... ORPHA:634
Neuroendocrine Tumor Of The Colon
Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ... ORPHA:100080
Hurler-Scheie Syndrome
Aortic regurgitation, Growth delay, Heparan sulfate excretion in urine, Mitral regurgitation, Spl... OMIM:607015
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious encephalitis, Arrhy... ORPHA:3386
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Malar rash, Splenomegaly, Hepatomegaly, Nephr... OMIM:603909
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Pulmonary embolism, Growth delay, Intestinal lymphangiectasia, Budd-Chiari syndr... OMIM:226300
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Recurrent skin infections OMIM:612840
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Elevated... OMIM:280000
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Xanthinuria, Type I
Hypouricemia, Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithi... OMIM:278300
Kury-Isidor Syndrome
Hydronephrosis, Recurrent otitis media, Growth delay OMIM:619762
Gm1-Gangliosidosis, Type I
Severe short stature, Abnormality of the urinary system, Dilated cardiomyopathy, Cherry red spot ... OMIM:230500
Niemann-Pick Disease, Type C1
Fetal ascites, Splenomegaly, CNS foam cells, Fatal liver failure in infancy, Prolonged neonatal j... OMIM:257220
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Abnormal mesentery morphology, Horseshoe kidney, Cryptorch... ORPHA:2953
Encephalitis Lethargica
Bradycardia ORPHA:83600
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Neurogenic bladder, Decreased activity of mitocho... OMIM:500013
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Myogl... OMIM:251900
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Aspiration pneumonia, Horseshoe kidney, Hyperglycemia, Decreased response t... ORPHA:444077
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Postnatal growth retardation, Intrauterine growth retardation, Cryptor... OMIM:612513
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Splenomegaly, Skin rash, Myositis, Gastritis, Keratocon... ORPHA:809
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Growth delay ORPHA:2083
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydronephrosis, Persistent left superior vena cava, Transposition of the great ar... OMIM:314390
Suleiman-El-Hattab Syndrome
Hydronephrosis, Cryptorchidism OMIM:618950
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hype... OMIM:608594
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, In... OMIM:615356
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Elevated circulating hepatic transaminas... OMIM:614527
Trisomy 8P
Nephrocalcinosis, Peripheral pulmonary artery stenosis, Annular pancreas, Tetralogy of Fallot, Cr... ORPHA:264450
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Yellow Fever
Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Elevated circulating a... ORPHA:99829
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Monosomy 13Q34
Hematochezia, Growth delay, Obesity, Hepatic steatosis, Hypercalcemia ORPHA:96168
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic in... OMIM:260400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Pigmentary retinopathy, Elevated circulating hepatic t... ORPHA:404454
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Erdheim-Chester Disease
Congestive heart failure, Osteomyelitis, Xanthelasma, Renal insufficiency, Skin rash, Hydronephro... ORPHA:35687
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Splenomegaly, Hodgkin lymphoma, B-cell lymphoma, El... OMIM:613011
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly OMIM:182900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur... OMIM:220110
Osteopetrosis With Renal Tubular Acidosis
Distal renal tubular acidosis, Abnormal circulating enzyme concentration or activity, Renal tubul... ORPHA:2785
Degcags Syndrome
Chronic kidney disease, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Cryptorchidism, Abno... OMIM:619488
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Anemia, Congenital Dyserythropoietic, Type Ia
Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Mild postnatal gro... OMIM:224120
Glycogen Storage Disease Ii
Urinary incontinence, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactat... OMIM:232300
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Acute hepatic failure, Horseshoe kidney, Renal hypoplasia/aplasia, ... ORPHA:2092
Peutz-Jeghers Syndrome
Intestinal bleeding, Bladder polyp, Gastrointestinal carcinoma, Bile duct polyp, Uterine neoplasm... OMIM:175200
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Hyperglycinemia, ... OMIM:251100
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ... OMIM:610505
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Urinary r... ORPHA:79102
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Patent ductus arteriosus, Renal dysplasi... OMIM:188400
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... ORPHA:100082
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Psoriasiform dermatitis, Renal insufficiency, ... ORPHA:2237
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Palpitations... OMIM:618250
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... OMIM:619424
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Def... OMIM:233690
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Abnormal urinary color ORPHA:56425
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal death, Pulmonary lymphangiect... OMIM:265380
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased circulating lactate dehydrogenase concentr... ORPHA:3202
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Hypertrophic cardi... ORPHA:308552
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Oliguria, Right ventricular failure, Abnormal lef... ORPHA:97292
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Pulmonary arterial hypertension, Erythema nodosum, Hepatomegaly, Bronchiectasis, Uv... OMIM:612387
Tetrasomy 15Q26
Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Hypoplastic aortic arch, Paten... OMIM:614846
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Monoclonal immunoglobulin M proteinemia, Leuk... ORPHA:33226
Overhydrated Hereditary Stomatocytosis
Pulmonary embolism, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, ... OMIM:185000
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Rhizomelia, Growth delay, Abnormal... ORPHA:818
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hyperinsuli... OMIM:269700
Garg-Mishra Progeroid Syndrome
Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis OMIM:620601
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis OMIM:619652
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, He... ORPHA:445038
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Splenomegaly, Crohn's disease... OMIM:616100
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Bronchiectasis, L... ORPHA:1572
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Bradycardia ORPHA:90674
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postnatal growth retardation, Elevated 8(9)-cholestenol, Hydronephrosis, Erythroderma... OMIM:302960
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Short stature, Hydronephrosis, Cryptorchidism ORPHA:364028
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Recurrent otitis media, Recurrent aphthous stomatitis, Splenomegaly, He... OMIM:301078
Marburg Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival hemorrhage,... ORPHA:99826
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Decreased testicular size, Intrauterine growth retardation, Hepatic steatosis, Hyp... OMIM:619321
Zaki Syndrome
Hydronephrosis, Patent ductus arteriosus, Short stature, Renal agenesis OMIM:619648
Scheie Syndrome
Aortic regurgitation, Splenomegaly, Mucopolysacchariduria, Hepatomegaly, Rhinitis ORPHA:93474
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Elevated circulating hepatic transaminase co... OMIM:557000
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Elevated gamma-glutamyltransferase level, Growth delay, Splenomegaly, Short stature, Hepatomegaly... OMIM:608885
Biotinidase Deficiency
Organic aciduria, Hyperammonemia, Splenomegaly, Skin rash, Seborrheic dermatitis, Decreased circu... OMIM:253260
ERI1-related disease
Tricuspid regurgitation, Intrauterine growth retardation, Vesicoureteral reflux, Hydronephrosis, ... OMIM:608739
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Cryptorchidism, Hydronephrosis, Short stature, Ureteral duplication,... OMIM:610733
Hereditary Elliptocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Postnatal growth retardation, Hyperbilirubinemia, Sp... ORPHA:288
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Prolonged prothrombin time, Hepatomeg... OMIM:617941
Cardiofaciocutaneous Syndrome 1
Atopic dermatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hydronephrosis, Short stature, Cave... OMIM:115150
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Odontogeni... ORPHA:2750
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Hydronephrosis, Patent ductus arteriosus, Congenital posterior ureth... OMIM:100100
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Postnatal growth retardation, Cryptorchidism ORPHA:531151
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Ureteral stenosis, Postnatal growth retardation, Teratoma, Hydronephrosis, Facial he... OMIM:269150
Neuroendocrine Tumor Of Stomach
Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu... ORPHA:100075
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mildly elevated creatine kinase, Mitochondrial swelling ORPHA:397744
Anemia, Congenital Dyserythropoietic, Type Iv
Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopathy, Hepatospl... OMIM:613673
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Hepatic steato... OMIM:616271
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Budd-Chiari syndrome,... ORPHA:729
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pancreatitis, Diabetic ketoacidosis ORPHA:70578
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Urinary retention, Chronic mucocutaneous... ORPHA:79124
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Renal ins... ORPHA:457077
Niemann-Pick Disease, Type C2
Fetal ascites, Splenomegaly, CNS foam cells, Foam cells, Hepatomegaly, Low cholesterol esterifica... OMIM:607625
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Osteomyelitis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Hypersplenism, Splenomegaly, Mitral regurgitation, Pulmonary ar... OMIM:230800
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Growth delay, Hypoglycemia, Concentric hypertrophic cardiomyopathy, Hypertrophic... OMIM:252010
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intrauterine growth retardation, Extrahepatic biliary du... OMIM:601346
Alpha-Thalassemia
Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundi... ORPHA:846
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Cryptorchidism, Hyd... OMIM:615926
Mesomelia-Synostoses Syndrome
Hydronephrosis, Short stature ORPHA:2496
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... OMIM:219700
Porphyria, Congenital Erythropoietic
Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, Reduced erythroc... OMIM:263700
Micro Syndrome
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Delayed puberty, Short stature, ... ORPHA:2510
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplastic aortic arch OMIM:620511
Trisomy 1Q
Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Congenital megaureter, Patent ductu... ORPHA:261344
Koolen-De Vries Syndrome
Aortic root aneurysm, Eczematoid dermatitis, Recurrent urinary tract infections, Intrauterine gro... OMIM:610443
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Tetralogy of Fallot, Abnormality of the spleen, Abnorma... ORPHA:1606
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis, Short stature, Growth delay, Patent ductus arteriosus ORPHA:457193
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Cardiomyopathy, Increased iduronate su... OMIM:252600
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney, Short stature, Cryptorchidism ORPHA:1920
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616689
Koolen-De Vries Syndrome
Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hydronephrosis, Short stature, Ureteral... ORPHA:96169
Hyperphosphatasia-Intellectual Disability Syndrome
Supernumerary nipple, Elevated circulating alkaline phosphatase concentration, Hydronephrosis, Te... ORPHA:247262
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:619518
Stromme Syndrome
Accessory spleen, Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Splenomegaly, Orchitis, Crohn's di... OMIM:249100
Giant Cell Arteritis
Vasculitis, Hepatic failure, Epistaxis, Aortic dissection, Double outlet right ventricle with sub... ORPHA:397
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Supernumerary nipple, Decreased testicular si... ORPHA:261349
Tetraploidy
Hydronephrosis, Intrauterine growth retardation, Renal hypoplasia/aplasia ORPHA:3305
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Short stature OMIM:618265
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent p... OMIM:613177
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis, Splenomegaly ORPHA:33577
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia, Splenomegaly, Hepatomegaly, Macro... OMIM:617303
Shwachman-Diamond Syndrome
Pneumonia, Hypoamylasemia, Elevated circulating hepatic transaminase concentration, Growth delay,... ORPHA:811
Distal Duplication 5Q
Eczematoid dermatitis, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Short stature, Hypo... ORPHA:96097
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Splenomegaly, Skin rash, Pustule, Elevated circulating C-reactive protein concentr... OMIM:612852
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... OMIM:602541
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Intrauterine growth retardation, Hydronephrosis, He... ORPHA:1297
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Ascites, Osteomyel... OMIM:306400
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena... ORPHA:232
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Hypophosphatemia, Polyuria, Calci... OMIM:239200
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormality of Krebs cycle ... ORPHA:255210
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Recurrent otitis med... OMIM:618268
Baller-Gerold Syndrome
Lymphoma, Abnormality of the ureter, Intrauterine growth retardation, Vesicoureteral reflux, Hydr... ORPHA:1225
Coccidioidomycosis
Pneumonia, Vasculitis, Folliculitis, Vasospasm, Abnormality of the spleen, Abnormality of the liv... ORPHA:228123
Chronic Granulomatous Disease
Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis... ORPHA:379
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ... ORPHA:261318
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Hypotension, Elevated circulating hepatic transaminase concentration... ORPHA:100079
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Dyskeratosis Congenita
Hepatic failure, Blepharitis, Periodontitis, Lymphoma, Intrauterine growth retardation, Neoplasm,... ORPHA:1775
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Recurrent pneumonia, Short stature OMIM:619179
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Cerebral atrophy, Cholecystitis, Splenomegaly, Optic disc pall... OMIM:615512
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... OMIM:154230
Dubowitz Syndrome
Eczematoid dermatitis, Lymphoma, Postnatal growth retardation, Intrauterine growth retardation, N... ORPHA:235
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Intrauterine growth retardation, Patent ductus arteriosus, Cryptorchidism OMIM:620327
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Eczematoid d... ORPHA:464306
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydr... OMIM:618454
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Immunodeficiency 31C
Growth delay, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Splenomega... OMIM:614162
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Tricuspid regurgitation, Intrauterine growth retardati... ORPHA:314585
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Cryptorchidism, Micropenis, Short stature OMIM:300534
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the ... ORPHA:512
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Visceromegaly, ... ORPHA:116
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating hepatic transaminase ... ORPHA:79318
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Hypert... ORPHA:365
Familial Mediterranean Fever
Nephropathy, Vasculitis, Nephrocalcinosis, Erysipelas, Acute hepatic failure, Ascites, Splenomega... ORPHA:342
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Panniculitis, Splenomegaly, Myositis OMIM:619183
Jacobsen Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatitis, Int... ORPHA:2308
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Cryptorchidism, Hydronephrosis, Astroc... OMIM:613001
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Elevated 8(9)-cholestenol, Hydronephrosis, Stillbirth, Short stature, ... OMIM:308050
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Hypospadias, Patent ductus arteriosus,... OMIM:616737
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Recurrent pneumonia, Pulmonary arterial hypertension, Hypospadias OMIM:616449
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Disproportionate short-limb short stature, Cryptorchidism, Congenital hepatic f... ORPHA:93271
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Tric... OMIM:619127
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Familial Tumoral Calcinosis
Neoplasm of the skin, Nephrocalcinosis, Skin rash, Splenomegaly, Hepatomegaly ORPHA:53715
Nijmegen Breakage Syndrome
Recurrent pneumonia, Glioma, Lymphoma, Recurrent urinary tract infections, Recurrent otitis media... OMIM:251260
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Abnormality of the ureter, Streak ovary, Ependymoma, Terat... ORPHA:798
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Intrauterine... ORPHA:464311
Microphthalmia, Lenz Type
Hydroureter, Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, Short stature, Hypospadias ORPHA:568
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ... OMIM:611126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Fryns Syndrome
Abnormal aortic arch morphology, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicouretera... ORPHA:2059
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren... ORPHA:183
Myelofibrosis
Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:254450
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Growth delay, Renal agenesis, Postnatal growth retardation, Cryptorchidism, Hydronephrosis, Micro... OMIM:301040
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Hepatic steatosis, Cryptorchidism, Hypop... OMIM:619503
Raine Syndrome
Hydroureter, Elevated circulating alkaline phosphatase concentration, Neonatal death, Hydronephro... OMIM:259775
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Vesicoureteral reflux, Hydronephrosis, Pulmonary arterial hypertension, ... OMIM:620663
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Multicystic kidney dysplasia, Abnormality of the... ORPHA:2461
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Hypoplastic nipples, Congen... ORPHA:2437
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, R... OMIM:614437
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Dilated cardiomyopathy OMIM:607598
Fryns Syndrome
Ectopic pancreatic tissue, Renal agenesis, Polysplenia, Cryptorchidism, Hydronephrosis, Renal cys... OMIM:229850
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Tricuspid regurgitation, Intrauterine growth retardation, Vesicoureteral reflux... OMIM:618460
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl... OMIM:233710
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Growth delay ORPHA:488613
Opitz Gbbb Syndrome
Abnormality of the urinary system, Aortic root aneurysm, Vesicoureteral reflux, Cryptorchidism, H... ORPHA:2745
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Patent ductus arteriosus, Bladder trabeculation, Ureteral ... OMIM:614080
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Hepatomegaly, Hypoproteinemia OMIM:603554
Rubinstein-Taybi Syndrome 1
Accessory spleen, Growth delay, Bilateral cryptorchidism, Capillary hemangioma, Postnatal growth ... OMIM:180849
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent otitis media, Prominent scalp veins, Typ... ORPHA:3455
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Growth delay, Cryptorchidism, Hydr... ORPHA:96121
Carey-Fineman-Ziter Syndrome
Hypertensive crisis, Glandular hypospadias, Hydronephrosis, Short stature, Growth delay ORPHA:1358
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Intrauterine growth retardation, Vesicoureteral reflux, Cryptorchidism, ... ORPHA:250989
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Increased circulating ferritin concentration, Oroticaciduria, Pulm... OMIM:222700
Feingold Syndrome Type 1
Interrupted aortic arch, Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux,... ORPHA:391641
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Hypoamylasemia, Decreased circulating lipoprotein l... ORPHA:556955
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Hydronephrosis, Unilateral breast hypoplasia, Short stature, Patent ductus arter... OMIM:300968
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Cryptorchidism, Infectious encephalitis, Hydronephrosis, Abno... ORPHA:847
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Pelvis-Shoulder Dysplasia
Hydronephrosis, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb shortening, Short s... ORPHA:2839
Sotos Syndrome
Small cell lung carcinoma, Cryptorchidism, Abnormality of the kidney, Acute lymphoblastic leukemi... ORPHA:821
Visceral Myopathy 1
Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Pancreatitis OMIM:155310
Koolen-De Vries Syndrome Due To A Point Mutation
Eczematoid dermatitis, Cardiomyopathy, Recurrent urinary tract infections, Decreased response to ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Eczematoid dermatitis, Cardiomyopathy, Recurrent urinary tract infections, Decreased response to ... ORPHA:363958
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux, Short stature ORPHA:2484
Eec Syndrome
Blepharitis, Keratitis, Lymphoma, Decreased response to growth hormone stimulation test, Vesicour... ORPHA:1896
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Bradycardia OMIM:617248
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Short stature ORPHA:3079
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot, Cryptorchidism, Renal h... ORPHA:2473
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Hepatome... OMIM:301066
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Hydroureter, Valvular pulmonary ... OMIM:300707
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Acute leukemia, Arrhythmia, Chronic otitis medi... ORPHA:906
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Renal agenesis, Abdominal situs inversus, Polysplenia, H... OMIM:306955
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Cryptorchidism, Hydronephrosis, Pulmonic stenosis, Short stature, Ca... ORPHA:1340
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Bradycardia ORPHA:226307
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Growth delay ORPHA:485421
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesi... ORPHA:2255
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract, G... ORPHA:2995
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis, Cryptorchidism, Growth delay OMIM:617798
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Growth delay, Decreased HDL cholesterol ... OMIM:256040
Simpson-Golabi-Behmel Syndrome, Type 1
Supernumerary nipple, Cryptorchidism, Hepatoblastoma, Arrhythmia, Hepatomegaly, Hypospadias, Pate... OMIM:312870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Vesicoureteral reflux, Cryptorchidism, Abnormal bladder morpholo... ORPHA:453499
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Abnormal urinary odor ORPHA:412217
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Type I diabetes mellitus, Periodontitis, Proportionate short stature, Hydro... OMIM:619269
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Renal insu... ORPHA:105
Cerebellar-Facial-Dental Syndrome
Severe short stature, Infancy onset short-trunk short stature, Abnormal T-wave, Ureteropelvic jun... ORPHA:444072
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Short stature, Cryptorchidism ORPHA:85201
Kabuki Syndrome
Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic junction obstruction,... ORPHA:2322
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Intrauterine growth retardation, Ureteropelvic junction obstr... OMIM:617557
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Cryptorchidism, Hypospadias, Patent ductus arteriosus, Vascular ring, Otit... ORPHA:353281
Peters-Plus Syndrome
Renal hypoplasia, Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retarda... OMIM:261540
Mosaic Trisomy 8
Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Short stature ORPHA:96061
Behçet Disease
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... ORPHA:117
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Right ventr... ORPHA:555874
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Chorioretin... OMIM:619475
Occipital Horn Syndrome
Bladder carcinoma, Ureteral obstruction, Carotid artery tortuosity, Hydronephrosis, Bladder diver... OMIM:304150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Postnatal growth retardation, Intrauterine growth retardation ORPHA:254528
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Cerebellar atrophy, Global br... ORPHA:909
Thakker-Donnai Syndrome
Hydronephrosis, Intrauterine growth retardation, Tetralogy of Fallot, Transposition of the great ... ORPHA:1780
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Apert Syndrome
Rhizomelic arm shortening, Cryptorchidism, Hydronephrosis, Overriding aorta, Acne, Chronic otitis... OMIM:101200
Steinert Myotonic Dystrophy
Neoplasm of the skin, Hyperinsulinemia, Choroidal melanoma, Brain neoplasm, Prolonged PR interval... ORPHA:273
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Intrauterine growth r... ORPHA:96191
Trisomy 18
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Abnormality of the upper urinary... ORPHA:3380
Tarp Syndrome
Horseshoe kidney, Tetralogy of Fallot, Intrauterine growth retardation, Cryptorchidism, Hydroneph... ORPHA:2886
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Aortic root aneurysm, Supernumerary nippl... OMIM:616580
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... ORPHA:793
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Disproportionate short-limb short stature, Tetralogy of Fallot, Cry... ORPHA:1507
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Hydronephrosis, Short stature OMIM:272950
Gaucher Disease, Type Iiic
Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomegaly, Hepatomegaly OMIM:231005
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Mic... OMIM:618653
3Mc Syndrome 1
Supernumerary nipple, Postnatal growth retardation, Hydronephrosis, Conjunctival telangiectasia, ... OMIM:257920
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Erysipelas, Fasciitis, Splenomegaly, Skin rash, Orchitis, Myositis, Peritoni... ORPHA:32960
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Megacystis, Decreased response to growth h... OMIM:604292
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia OMIM:619482
Kikuchi-Fujimoto Disease
Vasculitis, Elevated circulating hepatic transaminase concentration, Increased circulating lactat... ORPHA:50918
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Coarctation of aorta, Patent ductus arteriosus OMIM:619480
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Neoplasm, Hydronephrosis, Hypoplastic nipples, Patent ductus arteriosus, Delayed ... ORPHA:480880
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Short stature, Growth delay ORPHA:101000
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypoparathyroidism, Polycystic kidney dysplasia, Chronic otitis media, Hypospadia... ORPHA:567
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Postnatal growth retardation, Cryptorchidism, Abnormality of the kidney, H... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Postnatal growth retardation, Cryptorchidism, Abnormality of the kidney, H... ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Gastroesophageal reflux, Hepatic steatosis, Constipation OMIM:619934
Neonatal Adrenoleukodystrophy
Short stature, Abnormality of the liver ORPHA:44
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Total anomalous pulmonary venous return, Postnatal growth retardation,... ORPHA:487796
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... OMIM:142900
Ogden Syndrome
Diarrhea, Vomiting, Growth delay, Cerebral atrophy, Decreased testicular size, Intrauterine growt... OMIM:300855
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hepatic steatosis, Hypercholesterolemia,... ORPHA:391665
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Dermatomyositis
Lung adenocarcinoma, Arrhythmia, Vasculitis, Increased circulating lactate dehydrogenase concentr... ORPHA:221
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Mitral regurgitation, Polycystic ovaries, Overriding a... ORPHA:904
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Cryptorchidism, Renal duplication, Nephrolithiasis, Hydronephrosis, Right ventr... OMIM:268310
Vater/Vacterl Association
Renal agenesis, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardatio... OMIM:192350
Campomelic Dysplasia
Hydronephrosis, Short stature ORPHA:140
Okamoto Syndrome
Aortic valve stenosis, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomeg... ORPHA:2729
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Absent nipple, Ureteral triplication, Patent ductus arteriosus OMIM:104350
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Neurofibrosarcoma, Hypertrophic cardiomyopathy, Schwannoma, Mitral regurgitati... ORPHA:363700
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Bilateral cryptorchidism, Recurrent otitis media, Recurrent urina... OMIM:616268
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Decreased response to growth hormone stimu... OMIM:129900
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth delay, Tetralogy of Fall... ORPHA:2044
Charge Syndrome
Interrupted aortic arch, Horseshoe kidney, Tetralogy of Fallot, Aortic arch aneurysm, Intrauterin... ORPHA:138
Complement Factor I Deficiency
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... OMIM:610984
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Congenital Myopathy 17
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis... OMIM:300868
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Aortic aneurysm, Gro... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Aortic aneurysm, Gro... ORPHA:352665
Cousin Syndrome
Hydronephrosis, Rhizomelia, Disproportionate short stature OMIM:260660
Bardet-Biedl Syndrome 12
Hydronephrosis, Abdominal mass, Hydroureter, Cystic renal dysplasia OMIM:615989
Peters Plus Syndrome
Multicystic kidney dysplasia, Rhizomelia, Disproportionate short-limb short stature, Postnatal gr... ORPHA:709
Melnick-Needles Syndrome
Ureteral stenosis, Recurrent otitis media, Hydronephrosis, Pulmonary arterial hypertension, Still... OMIM:309350
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Coarctation of aorta,... ORPHA:97360
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Hydrourete... OMIM:212093
Hydrolethalus Syndrome 1
Accessory spleen, Intrauterine growth retardation, Hydronephrosis, Adrenal gland dysgenesis, Stil... OMIM:236680
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated... ORPHA:93672
Sarcoidosis
Arrhythmia, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Heart block, Renal insu... ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction, Growth delay OMIM:616973
Chime Syndrome
Acute leukemia, Tetralogy of Fallot, Hydronephrosis, Transposition of the great arteries, Abnorma... ORPHA:3474
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Hydroureter, Eczematoid dermatitis, Keratitis, Episcleritis, Cryptorchidism... ORPHA:2273
Kabuki Syndrome 1
Growth delay, Recurrent otitis media, Postnatal growth retardation, Crossed fused renal ectopia, ... OMIM:147920
Otopalatodigital Syndrome Type 2
Hydronephrosis, Ureteral obstruction, Hypospadias ORPHA:90652
Al-Gazali Syndrome
Hydronephrosis, Recurrent pneumonia OMIM:609465
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine gr... OMIM:135900
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis of the externa... OMIM:619472
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Growth delay, Renal agenesis, Intrauterine growth retardation, Grade III vesicoureteral... OMIM:619522
White-Kernohan Syndrome
Horseshoe kidney, Recurrent otitis media, Hydronephrosis, Hydroureter OMIM:619426
Floating-Harbor Syndrome
Atopic dermatitis, Nephrocalcinosis, Glandular hypospadias, Recurrent otitis media, Cryptorchidis... OMIM:136140
Charge Syndrome
Renal hypoplasia, Parathyroid hypoplasia, Renal agenesis, Horseshoe kidney, Decreased response to... OMIM:214800
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Cryptorchidism, Hydronephros... OMIM:601776
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Decreased circulating iron concentration, Increased c... ORPHA:438213
Frontometaphyseal Dysplasia
Hydronephrosis, Ureteral obstruction, Growth delay, Urethral stenosis ORPHA:1826
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Breast hypoplasia, Intrauterine growth ret... ORPHA:506358
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Vesicoureteral reflux, Cryptorchidism, Corneal neovascularization, Hydronephros... ORPHA:2363
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Cryptorchidism, Chor... ORPHA:2152
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Hydronephrosis, Microp... OMIM:258040
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Episcleritis, Skin rash, Orchitis, ... ORPHA:761
Focal Dermal Hypoplasia
Supernumerary nipple, Horseshoe kidney, Bifid ureter, Laryngeal papilloma, Cryptorchidism, Hydron... OMIM:305600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Abnormality of the urinary system, Hydroureter, Intrauterine growth retarda... ORPHA:2636
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Tetral... ORPHA:261537
Campomelic Dysplasia
Hydronephrosis, Neonatal short-limb short stature, Hypospadias, Disproportionate short-limb short... OMIM:114290
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Recurrent otitis media, Cryptorchid... ORPHA:261552
Knobloch Syndrome 1
Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting system, Patent ductus arte... OMIM:267750
Monosomy 22Q13.3
Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Recurrent skin infections, Renal... ORPHA:48652
Robinow Syndrome, Autosomal Dominant 1
Rhizomelia, Cryptorchidism, Renal duplication, Hydronephrosis, Micropenis, Right ventricular outl... OMIM:180700
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Otopalatodigital Syndrome, Type Ii
Postnatal growth retardation, Cryptorchidism, Hydronephrosis, Stillbirth, Short stature, Dilatati... OMIM:304120
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Bilateral cryptorchidism, Recurrent otitis media, Intrauterine growth ... OMIM:616462
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Cryptorchidism, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Inflammation of the large intestine, Hematochezia, Recurrent pneumonia, Skin rash, Co... OMIM:617718
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins, Short stature OMIM:610682
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Recurrent pneumonia, Eczematoid dermatitis, Hypocalcemia OMIM:620330
Cogan Syndrome
Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Episcleritis, Scleritis, In... ORPHA:1467
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Mesomelia-Synostoses Syndrome
Hydronephrosis, Mesomelic short stature OMIM:600383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Decreased testicular size, Elevated circulating creatine kinase con... OMIM:615287
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Cryptorchidism OMIM:606170
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Phacoanaphylactic Uveitis
Posterior uveitis, Panuveitis, Keratitis, Hyphema, Retinal arteritis, Anterior 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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