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Gene: Slc10a1 MGI:97379

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Gene Summary

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

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
cataract Slc10a1em1(IMPC)Mbp HOM Early adult 7.52×10-05
abnormal skin morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Slc10a1em1(IMPC)Mbp HOM Early adult 7.12×10-05
enlarged heart Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged gallbladder Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal seminal vesicle morphology 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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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, Increased serum bile acid concentration, Unconjugated hyperbilirubin... 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
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Rotor Syndrome
Jaundice, Hyperbilirubinemia, Porphyrinuria, Intermittent jaundice, Conjugated hyperbilirubinemia... ORPHA:3111
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Edinburgh Malformation Syndrome
Failure to thrive, Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:606785
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Diarrhe... OMIM:613812
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin... OMIM:619256
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
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
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Ethanolaminosis
Cardiomegaly OMIM:227150
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Splenomegaly, Cholelithiasis OMIM:224100
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Inc... ORPHA:2924
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio... OMIM:143500
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis OMIM:300752
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Increased tota... OMIM:616299
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Hepatocellular carcinoma, Intermitte... OMIM:601847
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid concentration, Generalized amin... OMIM:227810
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Beta-Thalassemia
Hepatomegaly, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatitis, Hypogonadotro... ORPHA:848
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cataract, ... OMIM:614876
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Myotonic Dystrophy 1
Cataract, Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod... OMIM:211600
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Conjunctival icterus, Cholelithiasis,... ORPHA:53035
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst, Polycystic liver disease OMIM:174050
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
4-hydroxyphenylacetic aciduria, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase co... OMIM:617156
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Jaundice, Hematuria, Cholelithiasis, Hyperuricemia, Elevated circ... OMIM:232800
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating... ORPHA:64743
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis OMIM:235700
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Gracile Syndrome
Increased serum pyruvate, Cholestasis, Increased circulating iron concentration, Increased circul... OMIM:603358
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Duplicated collecting system, Eleva... OMIM:617093
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperbilirubinem... ORPHA:1667
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Hyperammonemia,... OMIM:617049
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Decreased circulating cortisol level, Cholestasis OMIM:609734
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Conjunctival icterus, Splenomegaly, Hepatitis OMIM:194380
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract, ... ORPHA:1381
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Spherocytosis, Type 1
Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Abnormal intrahepatic bile ... ORPHA:480520
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Abnormality of the male ... OMIM:614886
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c... OMIM:619685
Relapsing Fever
Acute kidney injury, Jaundice, Elevated circulating hepatic transaminase concentration, Hematuria... ORPHA:91547
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Constipation, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conj... ORPHA:95715
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cataract, Ventricular septal defect, Optic disc pallor OMIM:613730
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,... ORPHA:84081
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration, Hypertrophic cardiomyopathy, Cholelithiasis OMIM:620646
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly OMIM:603903
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Developmental cataract, Hypogonadism OMIM:619273
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc... ORPHA:69665
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Pericardial effusion, Papilledema, Ventricular septa... OMIM:618775
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Distal Duplication 5Q
Dextrocardia, Hypospadias, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the g... ORPHA:96097
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased circulating iron concentr... ORPHA:766
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Glycogen Storage Disease Xii
Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Hyperbilirubinemia, Elevated c... OMIM:611881
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem... OMIM:240300
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Small for ges... OMIM:557000
Idiopathic Congenital Hypothyroidism
Constipation, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:95717
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Abnorma... ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H... OMIM:608836
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:2137
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Hepatom... OMIM:614887
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... OMIM:601346
Hijazi-Reis Syndrome
Gastroesophageal reflux, Hyperbilirubinemia, Chronic constipation OMIM:301094
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Diarrhea, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestas... OMIM:615710
Mulibrey Nanism
Hepatomegaly, Astigmatism, Corneal dystrophy, Ascites, Pericardial constriction, Myocardial fibro... OMIM:253250
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc... ORPHA:562639
Gaucher Disease Type 1
Cirrhosis, Pinguecula, Hepatomegaly, Cholelithiasis, Biliary tract obstruction, Splenic infarctio... ORPHA:77259
Alpha-Thalassemia
Jaundice, Cholelithiasis, Pericardial effusion, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-bound seru... OMIM:277900
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Urinary hesitancy, Urinary urgency, Vomiting, Nocturia, Neonatal hyperbilir... OMIM:609727
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Hyperlipidemia, Portal hypertensi... ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism,... ORPHA:96092
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Atrial s... OMIM:618652
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Hyperbili... ORPHA:542323
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Meckel Syndrome, Type 6
Abnormal internal genitalia, Bile duct proliferation, Cystic liver disease, Absent gallbladder, H... OMIM:612284
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransf... OMIM:620609
Pentalogy Of Cantrell
Hypospadias, Abnormal pericardium morphology, Tetralogy of Fallot, Absent gallbladder, Atrial sep... ORPHA:1335
Primary Biliary Cholangitis
Gastrointestinal inflammation, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hyper... ORPHA:186
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly ORPHA:822
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Cataract, Pigmentary retinopathy OMIM:204000
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Cataract, ... ORPHA:2377
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Triploidy
Hepatomegaly, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Abnormal cardiac ... ORPHA:3376
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Hemoglobinuria, Splenomeg... OMIM:300908
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Micropenis, Cholelithiasis OMIM:300534
Lathosterolosis
Bilobate gallbladder, Ambiguous genitalia, male, Intrahepatic cholestasis, Elevated circulating a... OMIM:607330
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Cataract, Ambiguous genitalia, Cryptorchidism, Hy... ORPHA:2772
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Intrahepatic cholestasis, Hepatomegaly, Neop... ORPHA:97283
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis, Optic disc pa... OMIM:615512
Spherocytosis, Type 4
Hyperbilirubinemia, Jaundice, Splenomegaly OMIM:612653
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Diarrhea, I... ORPHA:348
Reynolds Syndrome
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, H... OMIM:613471
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, M... ORPHA:98870
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Abnormality of the lower urinary tract ORPHA:101009
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Hypospadias, Cholelithiasis, Microcornea, Developmental cataract, Male uret... ORPHA:464738
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Cerebrotendinous Xanthomatosis
Cataract, Cholelithiasis, Optic disc pallor OMIM:213700
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Steatorrhea, De... ORPHA:14
Fumarase Deficiency
Bilateral fetal pyelectasis, Intrahepatic cholestasis, Hyperbilirubinemia, Necrotizing enterocoli... OMIM:606812
Familial Thyroid Dyshormonogenesis
Constipation, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Neon... ORPHA:95716
Steinfeld Syndrome
Absent gallbladder, Iris coloboma, Abnormal heart morphology, Retinal coloboma OMIM:184705
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Cardiomyopathy, Cataract, Hepatic steatosis OMIM:606069
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Reduced haptoglobin level, Hypospadias, Hyperbilirubinemia, Unconjugated hyperbilir... OMIM:613673
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Ascites, Splenomegaly, Cataract OMIM:256550
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria OMIM:266120
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, Co... ORPHA:294
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, Splenomegaly OMIM:185000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma OMIM:601794
Spherocytosis, Type 2
Hyperbilirubinemia, Jaundice, Splenomegaly OMIM:616649
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hypoglutaminemia, Hyperglutamatemia, I... ORPHA:3008
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Congenital Rubella Syndrome
Atrial septal defect, Jaundice, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentatio... ORPHA:290
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia, Jaundice, Splenomegaly, Hepatomegaly OMIM:616689
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Trisomy 8P
Annular pancreas, Astigmatism, Abnormal left ventricle morphology, Heterochromia iridis, Dysplast... ORPHA:264450
Grfoma
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E... OMIM:208540
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Decreased testicular size, Abnormal heart morpholog... ORPHA:1867
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Astigmatism, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrin... OMIM:618268
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, Splenomegaly, Small for gestationa... OMIM:224120
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Cataract... OMIM:618805
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color ORPHA:90036
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Meckel Syndrome, Type 7
Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat... OMIM:267010
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene... OMIM:214110
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Truncal obesity, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:73272
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentrat... ORPHA:131
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Portal vein thrombosis, Increased total bilirubin, Splenom... ORPHA:3202
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age OMIM:619075
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph... ORPHA:2075
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia OMIM:268150
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Cholelithiasis ORPHA:288
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Abnormal cardiac ... ORPHA:97297
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep... OMIM:208500
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Constipation, Prolonged neonatal jaundice, Fail... ORPHA:90674
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Corneal scarring, Splenomegaly, Conjunctivitis OMIM:263700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Hypospadi... OMIM:614866
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta... ORPHA:465508
Refsum Disease, Classic
Cataract, Retinal degeneration, Cardiomyopathy, Cardiomegaly OMIM:266500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Myopic astigmatism, Precocious puberty, Hepatosplenomegaly, Cholecy... OMIM:301066
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he... ORPHA:264580
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Diarrhea, Anuria, Bloody diarrhea,... ORPHA:90038
Fucosidosis
Cardiomegaly, Abnormality of the gallbladder, Corneal opacity, Hepatomegaly ORPHA:349
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Craniofacioskeletal Syndrome
Hypospadias, Ventricular septal defect, Absent gallbladder, Atrial septal defect, Cryptorchidism OMIM:300712
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Episodic vomiting, Hypokalemia, Microve... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ... OMIM:230400
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Gas... OMIM:613658
22Q11.2 Deletion Syndrome
Optic atrophy, Corneal neovascularization, Tricuspid atresia, Hypoparathyroidism, Hypospadias, Ch... ORPHA:567
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Cardiomegaly ORPHA:3137
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Ascites, Right ... ORPHA:57777
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Juvenile cataract, Optic neuropathy, Prolonged neonatal jaundice, ... ORPHA:909
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Abnormality of the spleen, Pigment gallstones ORPHA:232
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Bacterial endocarditis, Corneal opacity, Mitral valve calcification,... ORPHA:2072
Gaucher Disease
Cirrhosis, Hepatomegaly, Cholelithiasis, Abnormal heart valve morphology, Corneal opacity, Spleni... ORPHA:355
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome... OMIM:201475
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormality of the kidney, Gastrointestinal hemorrhage, Melena, Hyperbilirubinemia, ... ORPHA:464321
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Metachromatic Leukodystrophy
Urinary incontinence, Gallbladder dysfunction, Cholecystitis OMIM:250100
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cardiomyopath... OMIM:617713
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Jaundice, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbili... ORPHA:447
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Rh Deficiency Syndrome
Hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Reduced haptoglobin level ORPHA:71275
Yellow Fever
Hematemesis, Acute kidney injury, Jaundice, Diarrhea, Hyperbilirubinemia, Anuria, Acute pancreati... ORPHA:99829
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Absent gallbladder, Atrial septal defect, Ventricular septal defect,... ORPHA:163979
Hypothyroidism Due To Tsh Receptor Mutations
Constipation, Prolonged neonatal jaundice, Increased circulating thyroglobulin concentration, Neo... ORPHA:90673
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Red... ORPHA:60
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:255120
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Elevated circulating C-reactive protein concentration, Diarrhea, Parotiti... OMIM:620376
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Abnormal heart valve morpholog... ORPHA:77293
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Bi... ORPHA:83617
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Micropenis, Complete a... OMIM:617925
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep... OMIM:620454
Argininemia
Hepatomegaly, Portal fibrosis, Oroticaciduria, Episodic vomiting, Cholestasis, Vomiting, Hyperamm... OMIM:207800
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatomegaly, Hepatosplenomegaly, Left ventricular hy... ORPHA:79330
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Tetralogy of Fallot, Iris coloboma ORPHA:3186
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinin... ORPHA:449395
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Elevated circulati... OMIM:615486
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Steinert Myotonic Dystrophy
Posterior subcapsular cataract, Astigmatism, Decreased response to growth hormone stimulation tes... ORPHA:273
Digeorge Syndrome
Cholelithiasis, Truncus arteriosus, Hypoplasia of the thymus, Posterior embryotoxon, Parathyroid ... OMIM:188400
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal... ORPHA:90041
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatosplenomegaly, Splenomegaly, Hepatic failure OMIM:259720
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy OMIM:300578
Williams Syndrome
Hypoplasia of penis, Corneal opacity, Pulmonic stenosis, Mitral valve prolapse, Bicuspid aortic v... ORPHA:904
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, ... OMIM:602782
Alkaptonuria
Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Mitral valve calcificatio... ORPHA:56
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Joubert Syndrome 6
Retinal degeneration, Hepatic fibrosis, Bile duct proliferation OMIM:610688
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ascites, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micro... OMIM:616897
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Bile duct proliferation OMIM:611134
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Vacterl/Vater Association
Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Bifid scrotum, Abnormal morphol... ORPHA:887
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Nausea, Biliary tract neoplasm, Cholecystitis, ... ORPHA:100086
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Degcags Syndrome
Abnormal renal medulla morphology, Hepatomegaly, Hypospadias, Oral-pharyngeal dysphagia, Gastroes... OMIM:619488
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Tetrasomy 9P
Jaundice, Dextrocardia, Biliary atresia, Patent foramen ovale, Oligozoospermia, Abnormal mitral v... ORPHA:3310
Trisomy 10P
Absent gallbladder, Abnormal heart morphology, Rectovaginal fistula ORPHA:171929
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Decreased liver function, Elevated circulating hepatic transaminase concentration,... OMIM:618329
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Cardiomegaly, Increased hepatic glycogen content OMIM:619259
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Splenomegaly, Cataract, Limbal derm... ORPHA:2969
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Hypospadias, Hematuria, Hyperb... OMIM:619475
Transketolase Deficiency
Hepatomegaly, Patent foramen ovale, Abnormal heart morphology, Conjunctivitis, Cataract, Atrial s... ORPHA:488618
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pitu... OMIM:610125
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Peters anomaly, Hypoplastic labia majora, Ventricular septal d... OMIM:261540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Diarrhea, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Hepato... OMIM:618278
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Renal cell c... ORPHA:2869
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom... OMIM:120200
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea... OMIM:618500
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Cardiomegaly, Pol... ORPHA:137675
Neurooculorenal Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Decreased circulating cortisol level, Stage ... OMIM:620305
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ... ORPHA:79277
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Bifid scrotum, Urogenital sinus anomaly, Ambiguous ge... ORPHA:96176
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Zttk Syndrome
Optic atrophy, Atrial septal defect, Ventricular septal defect, Absent gallbladder OMIM:617140
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Diarrhea, Microvesicular hepatic ste... OMIM:300855
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Hepatosplenomegaly, Conjugated hyperbilirubinemia ORPHA:168577
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... OMIM:309801
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Meckel Syndrome
Optic atrophy, Situs inversus totalis, Accessory spleen, Microcornea, Asplenia, Cryptorchidism, M... ORPHA:564
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblasto... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification... ORPHA:228308
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Vesicoureteral reflux, Neonatal hyperbilirubinemia, Chronic constipation, Micropenis ORPHA:163956
Mucopolysaccharidosis Type 3
Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Corneal opacity, Abn... ORPHA:581
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Conjunctival ... ORPHA:774
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial ... OMIM:261740
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte... ORPHA:731
Alagille Syndrome 1
Abnormal anterior chamber morphology, Cirrhosis, Elevated circulating hepatic transaminase concen... OMIM:118450
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr... ORPHA:308552
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect, Biliary atresia OMIM:615272
Hypothyroidism, Congenital, Nongoitrous, 2
Constipation, Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Rett Syndrome
Hyperammonemia, Increased serum pyruvate, Failure to thrive, Cholecystitis ORPHA:778
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatic failure OMIM:608013
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gastroesophageal reflux, Polycystic kidney dysplasia, Hyperbilirubinemia, Renal cyst, Prolonged n... OMIM:210710
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... ORPHA:98908
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Hepatic... OMIM:620371
Microphthalmia, Syndromic 2
Hypospadias, Dextrocardia, Retinal detachment, Microcornea, Ventricular septal defect, Remnants o... OMIM:300166
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Portal hypertension, Splenomegaly, Nodular regenerative hyperplasia of liver, Cholecystitis, Hepa... OMIM:620367
Q Fever
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hematuria, Hepatosplenomeg... ORPHA:781
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... 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, Optic nerve hypoplasia, Abnormal heart morphology, Absent gallbladder, Atrial sept... ORPHA:500150
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Hypocalcemia, Portal hypertension, Elevated ... OMIM:243800
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Wolf-Hirschhorn Syndrome
Optic atrophy, Abnormality of the gallbladder, Hypospadias, Abnormal cardiac septum morphology, A... ORPHA:280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Developmental glaucoma, Patent foramen ovale, Mitral valve prolapse, Left ... OMIM:245600
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepatitis, Exocrine pancreat... OMIM:269200
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Phace Syndrome
Abnormal cardiac septum morphology, Optic nerve hypoplasia, Heterochromia iridis, Abnormal heart ... ORPHA:42775
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Norrie Disease
Optic atrophy, Uterine rupture, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opaci... ORPHA:649
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... OMIM:106210
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Atelis Syndrome 2
Pulmonic stenosis, Supravalvar pulmonary stenosis, Developmental cataract, Remnants of the hyaloi... OMIM:620185
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly, Tortuosity of conjunctival vessels OMIM:230000
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomeg... OMIM:252500
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Abnormal cardiac septum... OMIM:249000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Prolonged neonatal jaundice, Gastroesophageal reflux, Unconjugated hyperbilirubinemia OMIM:620186
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... OMIM:300967
Smith-Lemli-Opitz Syndrome
Optic atrophy, Clitoral hypertrophy, Abnormality of the gallbladder, Atrioventricular canal defec... ORPHA:818
Kawasaki Disease
Jaundice, Elevated circulating C-reactive protein concentration, Diarrhea, Proteinuria, Hypoalbum... ORPHA:2331
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:619525
Aicardi-Goutières Syndrome
Developmental glaucoma, Elevated circulating hepatic transaminase concentration, Hypertrophic car... ORPHA:51
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Gastroesophageal reflux, Vesicov... OMIM:300896
Listeriosis
Acute kidney injury, Jaundice, Liver abscess, Pyelonephritis, Diarrhea, Splenic abscess, Vomiting... ORPHA:533
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Cardiomegaly, Ventricular septal defect, Cardiomyopathy, Scler... ORPHA:3472
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Crimean-Congo Hemorrhagic Fever
Hematemesis, Jaundice, Hepatomegaly, Melena, Hematuria, Diarrhea, Parotitis, Acute pancreatitis, ... ORPHA:99827
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr... ORPHA:116
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Ventricular... ORPHA:436252
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Cholecystitis ORPHA:309256
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Cholangitis, Chronic gastritis, Recurrent urinary tract infections, Viral hepatiti... ORPHA:183675
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Parotitis, Punctate opacif... OMIM:256040
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Cholecystitis ORPHA:309263
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr... ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Neuroocular Syndrome
Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Lens c... OMIM:619539
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Retinal hemorrhage, Pericardial effusion, Pancreatic calcificat... ORPHA:51608
Holoprosencephaly 2
Single ventricle, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris colo... OMIM:157170
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250

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.

Phenotype Allele Zygosity Sex Life Stage
Liver - MPATH pathological process term necrosis Slc10a1em1(IMPC)Mbp HOM Early adult

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 Slc10a1.

No publications found that use IMPC mice or data for Slc10a1.

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
Slc10a1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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