Gene Summary

Name:
solute carrier family 10 (sodium/bile acid cotransporter family), member 1
Synonyms:
sodium bile acid cotransporting polypeptide,  Ntcp

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Slc10a1em1(IMPC)Mbp HOM Early adult 7.12×10-05
abnormal skin morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal seminal vesicle morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged gallbladder Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
cataract Slc10a1em1(IMPC)Mbp HOM Early adult 7.52×10-05
abnormal heart morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Slc10a1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Slc10a1 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 Slc10a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... OMIM:619256

The table below shows human diseases predicted to be associated to Slc10a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Rotor Syndrome
Bilirubinuria, Hyperbilirubinemia, Intermittent jaundice, Porphyrinuria, Jaundice, Conjugated hyp... ORPHA:3111
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:210500
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:235555
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration OMIM:606785
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Fai... OMIM:613812
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... OMIM:619256
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:607765
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyper... ORPHA:247598
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Harderoporphyria
Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Increased ur... OMIM:618892
Ethanolaminosis
Cardiomegaly OMIM:227150
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Multiple renal c... ORPHA:2924
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration OMIM:300752
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce... OMIM:143500
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice OMIM:618881
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Intermittent jaundice OMIM:179700
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia ORPHA:673
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Liver Failure, Infantile, Transient
Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminas... OMIM:214950
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:613404
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... OMIM:601847
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi... ORPHA:234
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glycosuria, Beta 2-... OMIM:227810
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... ORPHA:30391
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hypogonadotropic hypogonadi... ORPHA:848
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... OMIM:614876
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Myotonic Dystrophy 1
Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism OMIM:160900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles... OMIM:243300
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... ORPHA:53035
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Increased total bilirubin OMIM:174050
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Vomiting, He... OMIM:251880
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Neonatal hyperbilirubinemia, Small for gestational age ORPHA:3363
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:208085
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:235700
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... ORPHA:64743
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevate... OMIM:232800
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Mirizzi Syndrome
Cholelithiasis, Vomiting, Elevated circulating hepatic transaminase concentration, Hyperbilirubin... ORPHA:521219
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration,... ORPHA:1667
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Infantile Sialic Acid Storage Disease
Failure to thrive, Splenomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia OMIM:269920
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... OMIM:617049
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of peni... ORPHA:1381
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure t... OMIM:229600
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormality of the kid... ORPHA:480520
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Abnorma... OMIM:614886
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil... OMIM:619685
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Optic disc pallor OMIM:613730
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... OMIM:602347
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Elevated circulating ... ORPHA:91547
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Cholelithiasis, Retinal degeneration OMIM:620646
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosplenomegaly, Abnormality of the li... ORPHA:231222
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... ORPHA:400
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Constipation, Conj... ORPHA:95715
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Developmental cataract, Hepatomegaly OMIM:619273
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice OMIM:603903
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Papilledema, Pericardial ... OMIM:618775
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Incre... ORPHA:69665
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Distal Duplication 5Q
Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H... ORPHA:96097
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly, Cataract ORPHA:79238
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... ORPHA:766
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Cholelithiasis, Female hypogonadism, Male hypogonadism, Pigmentary retinopathy, Keratoc... OMIM:240300
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hepatic failure, Vomiting, Elevated circulating hepatic transaminase c... OMIM:557000
Glycogen Storage Disease Xii
Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulatin... OMIM:611881
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Constipation ORPHA:95717
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Cholestasis, Decreased liver function ORPHA:570422
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... ORPHA:3166
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta... ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concen... OMIM:608836
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... ORPHA:2137
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase ... OMIM:614887
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp... OMIM:235200
Hijazi-Reis Syndrome
Hyperbilirubinemia, Gastroesophageal reflux, Chronic constipation OMIM:301094
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbl... OMIM:615710
Mulibrey Nanism
Pigmentary retinopathy, Ascites, Astigmatism, Cardiomegaly, Pericardial constriction, Hepatomegal... OMIM:253250
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... ORPHA:562639
Alpha-Thalassemia
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Jaundice ORPHA:846
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Vomiting, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary... OMIM:609727
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypop... ORPHA:96092
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardio... OMIM:618652
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration,... ORPHA:542323
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... ORPHA:171
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Abnormal internal genitalia, Bile duct proli... OMIM:612284
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi... OMIM:301068
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circ... OMIM:620609
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula... ORPHA:1335
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Graft Versus Host Disease
Diarrhea, Vomiting, Failure to thrive, Elevated circulating hepatic transaminase concentration, H... ORPHA:39812
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Abnormal urinary color ORPHA:90037
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly OMIM:204000
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Laurence-Moon Syndrome
Cataract, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the urethral meatus, Hypop... ORPHA:2377
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Triploidy
Cataract, Hypospadias, Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Abnor... ORPHA:3376
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol l... ORPHA:97283
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micropenis, Decreased testicular size, Cholelithiasis, Cryptorchidism OMIM:300534
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Cataract, Elevated circulating aspartate aminotransfe... OMIM:607330
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency ORPHA:713
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cataract, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia,... ORPHA:2772
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Prolonged neonatal jaundice, Jaundice, Decreased glucose-6-phosphate dehydrogenase ... OMIM:300908
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Optic disc pallor, Prolonged neonatal jaundice, Jaun... OMIM:615512
Reynolds Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613471
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Late-Onset Familial Hypoaldosteronism
Vomiting, Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol,... ORPHA:556037
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concen... ORPHA:348
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Cataract ORPHA:1875
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... ORPHA:1067
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas... ORPHA:97278
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Microcornea, Male urethral meatus stenosis, Ventricular septal defect, Atrial sep... ORPHA:464738
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Abnormality of the lower urinary tract ORPHA:101009
Cerebrotendinous Xanthomatosis
Cataract, Cholelithiasis, Optic disc pallor OMIM:213700
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Vomiting, Failure to thrive, Elevated cir... ORPHA:14
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Hepatic failure, Fail... OMIM:606812
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... OMIM:231100
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Hepatic steatosis, Cirrhosis, Hepatomegaly OMIM:606069
Steinfeld Syndrome
Abnormal heart morphology, Iris coloboma, Absent gallbladder, Retinal coloboma OMIM:184705
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Constipation, Prol... ORPHA:95716
Neuraminidase Deficiency
Cataract, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc... OMIM:212140
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Hepatomegaly, We... OMIM:613673
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia OMIM:266120
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... OMIM:618052
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Cryptorchidism, Retinal coloboma OMIM:601794
Early-Onset Familial Hypoaldosteronism
Vomiting, Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol,... ORPHA:556030
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice OMIM:185000
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Vomiting, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec... ORPHA:2255
Congenital Rubella Syndrome
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Abnormality of... ORPHA:290
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616649
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616689
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Trisomy 8P
Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Cryptorchidism, Astigm... ORPHA:264450
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas... ORPHA:97261
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Hereditary Bullous Dystrophy, Macular Type
Cataract, Abnormal heart morphology, Decreased testicular size, External genital hypoplasia, Cryp... ORPHA:1867
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Astigm... OMIM:618268
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine a... OMIM:618805
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Small for gestationa... OMIM:224120
Meckel Syndrome, Type 3
Hepatomegaly, Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color ORPHA:90036
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Clitoral hypertrophy, Pigmentary retinopathy, Abnormal heart morphology, Opacification ... OMIM:214110
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Small for gestational age, Truncal obesity ORPHA:73272
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Male pseudohermaph... ORPHA:2075
Coats Disease
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia OMIM:619075
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Tetralogy o... OMIM:600001
Metachromatic Leukodystrophy
Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology ORPHA:512
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Cardiomegaly, Retinal atrophy, Abnormal cardiac ... ORPHA:97297
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Abnormal circulating thyroglobulin concentration,... ORPHA:90674
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulatin... OMIM:203400
Porphyria, Congenital Erythropoietic
Cholelithiasis, Conjunctivitis, Corneal scarring, Splenomegaly, Hepatomegaly, Jaundice OMIM:263700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Failure to thrive, Cholestasis, Elevated circulating phytanic acid concentration, He... OMIM:614866
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici... OMIM:619991
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C... ORPHA:465508
Refsum Disease, Classic
Cardiomegaly, Cataract, Cardiomyopathy, Retinal degeneration OMIM:266500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Portal fibrosis, Elevated circulating he... ORPHA:264580
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Myopic astigmatism, Hepatosplenomegaly, Cholecystitis, Hepato... OMIM:301066
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Acute colitis, Elevated circulating creatinine c... ORPHA:90038
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Corneal opacity ORPHA:349
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration OMIM:614292
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias OMIM:300712
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion OMIM:614702
Galactosemia I
Cataract, Decreased liver function, Elevated circulating aspartate aminotransferase concentration... OMIM:230400
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
22Q11.2 Deletion Syndrome
Cataract, Cholelithiasis, Optic atrophy, Abnormality of the uterus, Tetralogy of Fallot, Abnormal... ORPHA:567
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Gastroesophageal reflux, Vomiting, Failure to thrive, Elevated circulating hepat... OMIM:613658
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract ORPHA:3137
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Cirrhotic Cardiomyopathy
Conjunctival icterus, Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertroph... ORPHA:57777
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Juvenile cataract, Prolonged neonatal jaundice, Optic disc pallor,... ORPHA:909
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice ORPHA:232
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality... ORPHA:2072
Gaucher Disease
Aortic valve calcification, Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnor... ORPHA:355
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice ORPHA:529799
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Renal Fanconi syndr... ORPHA:53693
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Abnormality of the liver, Hyperbilirubinemia, Abnormal... ORPHA:464321
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Metachromatic Leukodystrophy
Urinary incontinence, Gallbladder dysfunction, Cholecystitis OMIM:250100
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased ... OMIM:177735
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Astigmatism, Cardiomegal... OMIM:617713
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Vomiting, Hypokalemia, Abnormal magnesium... OMIM:241150
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Micropenis, ... ORPHA:163979
Yellow Fever
Acute kidney injury, Diarrhea, Vomiting, Anuria, Pancreatic hyperplasia, Elevated circulating cre... ORPHA:99829
Rh Deficiency Syndrome
Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Cholestasis, Dark urine, Hyperbilirubinemia, Congenital hepatic f... OMIM:619534
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Constipation, Increased circulating thy... ORPHA:90673
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, J... ORPHA:60
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... OMIM:601678
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Diarrhea, Failure to thrive, Parotitis, Cholestasis, Elevated circulating aspar... OMIM:620376
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper... ORPHA:77293
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... OMIM:620454
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Perimembranous ventri... ORPHA:83617
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Tetralogy of Fallot, Septate vagina, Absent gallbladder, Complete atrioventricu... OMIM:617925
Cranioectodermal Dysplasia 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... OMIM:613610
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hy... ORPHA:90041
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy... ORPHA:79330
Argininemia
Vomiting, Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperammonemia, H... OMIM:207800
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Iris coloboma, Overriding aorta, Absent gallbladder ORPHA:3186
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Weight loss, Elevat... ORPHA:449395
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Vomiting, Intraalveolar phospholipid accumulati... OMIM:615486
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Steinert Myotonic Dystrophy
Cholelithiasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, ... ORPHA:273
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Hepatic steatosis, Splenomegaly, Tru... OMIM:188400
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly, Hepatomegaly OMIM:259720
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Cryptorchidism OMIM:300578
Williams Syndrome
Megalocornea, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovarie... ORPHA:904
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... OMIM:602782
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Black pigment... ORPHA:56
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation, Retinal degeneration OMIM:610688
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Splenomegaly, Hepatomegaly, Jaundice, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect OMIM:611134
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Micropenis, Hyposp... OMIM:616897
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Vacterl/Vater Association
Bifid scrotum, Abnormal morphology of female internal genitalia, Abnormality of the gallbladder, ... ORPHA:887
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Weight l... ORPHA:100086
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Retinal degeneration ORPHA:391428
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Gastroesophageal reflux, Bilateral renal dysplasia, Bil... OMIM:619488
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Patent foramen ovale, Abnormal mitral valve morphology, Bilia... ORPHA:3310
Trisomy 10P
Abnormal heart morphology, Rectovaginal fistula, Absent gallbladder ORPHA:171929
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Elevated circulating hepatic transaminase concentration, Decreased liver function,... OMIM:618329
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp... ORPHA:2969
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... OMIM:241200
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, Obesity, Hy... OMIM:619475
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic ... OMIM:618278
Transketolase Deficiency
Cataract, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial sept... ORPHA:488618
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Optic nerve hypop... OMIM:610125
Peters-Plus Syndrome
Cataract, Hypospadias, Peters anomaly, Retinal coloboma, Cryptorchidism, Biliary tract abnormalit... OMIM:261540
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnorma... ORPHA:2869
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system... OMIM:120200
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... OMIM:618500
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Histiocytoid Cardiomyopathy
Optic atrophy, Megalocornea, Congenital aphakia, Polycystic ovaries, Cardiomegaly, Ventricular se... ORPHA:137675
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Ring Chromosome 13 Syndrome
Bifid scrotum, Ambiguous genitalia, Urogenital sinus anomaly, Hypoplasia of the gallbladder, Micr... ORPHA:96176
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin ... ORPHA:79277
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Zttk Syndrome
Optic atrophy, Absent gallbladder, Atrial septal defect, Ventricular septal defect OMIM:617140
Ogden Syndrome
Diarrhea, Vomiting, Hyperbilirubinemia, Microvesicular hepatic steatosis, Global glomeruloscleros... OMIM:300855
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Hepatosplenomegaly, Conjugated hyperbilirubinemia ORPHA:168577
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Clitoral hypertrophy, Hypospadias, Peters anomaly, Pigmentary retinopathy, Histiocytoid... OMIM:309801
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Optic atrophy, Situs inversus totalis, Cryptorchidism, C... ORPHA:564
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal... ORPHA:228308
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Vesicoureteral reflux, Chronic constipation, Micropenis, Hypospadias ORPHA:163956
Mucopolysaccharidosis Type 3
Cataract, Pigmentary retinopathy, Optic atrophy, Splenomegaly, Abnormal aortic valve morphology, ... ORPHA:581
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... ORPHA:774
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardio... OMIM:261740
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... ORPHA:731
Alagille Syndrome 1
Cataract, Hepatic failure, Elevated circulating hepatic transaminase concentration, Microcornea, ... OMIM:118450
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:308552
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect, Biliary atresia OMIM:615272
Rett Syndrome
Hyperammonemia, Increased serum pyruvate, Failure to thrive, Cholecystitis ORPHA:778
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:608013
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Constipation OMIM:218700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Gastroesophageal reflux, Failure to thrive, Hyperbilirubinemia, Prolonged neona... OMIM:210710
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... OMIM:620371
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hypospadias, Microcornea, Septate vagina, Cryptorchidism, Mitral valve pro... OMIM:300166
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Abnormal heart morphology, Absent gallbladder, Atrial septal defect, Optic nerve h... ORPHA:500150
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Urethrovaginal fistula, Hepatic failure, Failure to t... OMIM:243800
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Wolf-Hirschhorn Syndrome
Hypospadias, Optic atrophy, Abdominal situs inversus, Megalocornea, Abnormal heart valve morpholo... ORPHA:280
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias OMIM:620306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunctivitis, C... OMIM:269200
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic stea... OMIM:261515
Phace Syndrome
Cataract, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia i... ORPHA:42775
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ... ORPHA:649
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Developmental cataract, Pulmonic stenosis, Remnants of the hyaloi... OMIM:620185
Fucosidosis
Hepatomegaly, Tortuosity of conjunctival vessels, Cardiomegaly, Splenomegaly OMIM:230000
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Mucolipidosis Ii Alpha/Beta
Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Opacificatio... OMIM:252500
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Abnormality of the uterus, Ambiguous ... OMIM:249000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Gastroesophageal reflux OMIM:620186
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Smith-Lemli-Opitz Syndrome
Cataract, Hypospadias, Clitoral hypertrophy, Optic atrophy, Atrioventricular canal defect, Abnorm... ORPHA:818
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Kawasaki Disease
Hypoalbuminemia, Diarrhea, Sterile pyuria, Hepatitis, Cholecystitis, Proteinuria, Elevated circul... ORPHA:2331
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Tetralog... OMIM:619525
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... ORPHA:51
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Gastroesophageal reflux, Vesicovaginal fistula, Ureteropelvic juncti... OMIM:300896
Listeriosis
Acute kidney injury, Vomiting, Diarrhea, Pyelonephritis, Cholecystitis, Peritonitis, Jaundice, He... ORPHA:533
Yunis-Varon Syndrome
Cataract, Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular ... ORPHA:3472
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ... ORPHA:733
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine pancreatic ins... ORPHA:116
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Diarrhea, Parotitis, Cholecystitis, Splenomegaly, Elevated circulating creatine ... ORPHA:99827
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Ventricular septal defect, Hypoplasia of the thymus, Abnormal duct... ORPHA:436252
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Cholecystitis ORPHA:309256
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent urinary tract infections, Chronic gastritis, Cholecystitis, Cholangiti... ORPHA:183675
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Parotitis, Punctate opacification of the... OMIM:256040
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Metachromatic Leukodystrophy, Juvenile Form