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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
abnormal skin morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Slc10a1em1(IMPC)Mbp HOM   Early adult 6.57×10-07
abnormal heart morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart 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
cataract Slc10a1em1(IMPC)Mbp HOM   Early adult 5.80×10-07
abnormal seminal vesicle morphology Slc10a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged gallbladder 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
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... 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
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Porphyrinuria, Intermittent jaundice, Hyp... ORPHA:3111
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Edinburgh Malformation Syndrome
Jaundice, Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester... OMIM:600803
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... ORPHA:79303
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... ORPHA:890
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio... OMIM:618892
Ethanolaminosis
Cardiomegaly OMIM:227150
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Cholelithiasis, Jaundice OMIM:224100
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:605479
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:237800
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... OMIM:616299
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Alpha-Thalassemia
Splenomegaly, Cholelithiasis, Jaundice, Hypersplenism ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In... OMIM:601847
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Pigmentary retinopathy, Cholestati... ORPHA:79095
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... ORPHA:234
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug... ORPHA:30391
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophi... ORPHA:848
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar... OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst, Increased total bilirubin OMIM:174050
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... OMIM:251880
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy OMIM:160900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduri... OMIM:617156
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... OMIM:232800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Nausea, Pancreatitis, Jaundice, Cholesterol gallstones... ORPHA:521219
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:617049
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami... ORPHA:1667
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... OMIM:617093
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Hepatitis, Cholelithiasis OMIM:194380
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome, Failure to thrive OMIM:269920
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Gastroin... OMIM:229600
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Spherocytosis, Type 1
Splenomegaly, Cholelithiasis, Jaundice OMIM:182900
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:619685
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Atrial septal defect, Abnormality of the male genitalia, Cholelith... OMIM:614886
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Developmental cataract, Hypogonadism, Cholelithiasis OMIM:619273
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po... OMIM:602347
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardio... OMIM:618775
Relapsing Fever
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, D... ORPHA:91547
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... OMIM:611881
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... ORPHA:766
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cataract, Female hypogonadism, Chronic active hepatitis, Asplenia, Keratoconj... OMIM:240300
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Tetra... ORPHA:1381
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism OMIM:613730
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... ORPHA:69665
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... ORPHA:615
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, J... ORPHA:858
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the g... ORPHA:96097
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Sialuria
Hepatosplenomegaly, Cholelithiasis, Elevated hepatic transaminase, Hepatomegaly ORPHA:3166
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Vomiting, Macrovesicula... OMIM:608836
Hijazi-Reis Syndrome
Chronic constipation, Gastroesophageal reflux, Hyperbilirubinemia OMIM:301094
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Mulibrey Nanism
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig... OMIM:253250
Mitchell-Riley Syndrome
Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, A... OMIM:615710
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Constipation, Prolonged ... ORPHA:95715
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... OMIM:235200
Idiopathic Congenital Hypothyroidism
Constipation, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:95717
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Urinary hesitancy, Urinary urgency, Vomiting, Neonatal hyperbilirubinemia, ... OMIM:609727
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Cystic liver disease, Bile duct proliferation, H... OMIM:612284
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Nausea, Diarrhea, Elevated circulating creatinine concentration, V... ORPHA:542323
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia o... ORPHA:96092
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Graft Versus Host Disease
Elevated hepatic transaminase, Jaundice, Diarrhea, Chronic hepatitis, Hepatosplenomegaly, Gastroi... ORPHA:39812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Cholelithiasis ORPHA:822
Pentalogy Of Cantrell
Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Poly... ORPHA:1335
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Increased total bilirubin ORPHA:90037
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Hype... ORPHA:97283
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peters anomaly, Atrial septal ... OMIM:618652
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund... OMIM:300908
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy OMIM:204000
Spherocytosis, Type 4
Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:612653
Steinfeld Syndrome
Absent gallbladder, Retinal coloboma, Iris coloboma, Abnormal heart morphology OMIM:184705
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Triosephosphate Isomerase Deficiency
Optic disc pallor, Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithi... OMIM:615512
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Abnormality of the liver, Cataract, Hypergonadotropic hypogonadism OMIM:614307
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... ORPHA:186
Cerebrotendinous Xanthomatosis
Cholelithiasis, Cataract, Optic disc pallor OMIM:213700
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Melena, Increased serum iron, Increased total iron binding capacit... ORPHA:98870
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Diarrhea, Vomiting, Hype... ORPHA:348
Autosomal Dominant Spastic Paraplegia Type 29
Abnormality of the lower urinary tract, Hyperbilirubinemia ORPHA:101009
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Developmental cataract, Microcornea, Male urethral meatus... ORPHA:464738
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Splenomegal... OMIM:613471
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Constipation, Neonatal hyperbilirubinemia, Prolonged ne... ORPHA:95716
Triploidy
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Abnormality of the panc... ORPHA:3376
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Hepatic steatosis OMIM:606069
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Unconjugated hyperbilir... OMIM:613673
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the u... ORPHA:2377
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ... ORPHA:14
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Fumarase Deficiency
Failure to thrive, Increased urine succinate level, Bilateral fetal pyelectasis, Necrotizing ente... OMIM:606812
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size OMIM:300534
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Neuraminidase Deficiency
Hepatomegaly, Cataract, Cardiomegaly, Splenomegaly, Cardiomyopathy, Ascites OMIM:256550
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Exocrine pa... ORPHA:2255
Spherocytosis, Type 2
Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:616649
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal... ORPHA:288
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice OMIM:185000
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ventricular septal ... ORPHA:290
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:616689
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart,... ORPHA:2772
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97261
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... OMIM:208540
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma ORPHA:363741
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, L... ORPHA:3008
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Astigmatism, Recurrent pancreatitis, Hypop... OMIM:618268
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Small for gestational age, Splenomegaly, Hyperbilirubinemia, Prolonged neonatal jau... OMIM:224120
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase con... OMIM:618805
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Cholelithiasis, Portal vein thrombosis, Intermittent jaundice ORPHA:3202
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Trisomy 8P
Abnormal atrioventricular connection, Cryptorchidism, Annular pancreas, Abnormal left ventricle m... ORPHA:264450
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Biliary cirrhosis, Cholestasis, He... OMIM:267010
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90036
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:73272
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal... OMIM:600001
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age OMIM:619075
Porphyria, Congenital Erythropoietic
Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Cholelithiasis OMIM:263700
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Cholelithiasis,... ORPHA:97297
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia OMIM:268150
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... OMIM:214110
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Metachromatic Leukodystrophy
Hemobilia, Abnormal gallbladder morphology, Neoplasm of the gallbladder ORPHA:512
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... OMIM:208500
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepat... ORPHA:774
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic i... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Precocious puberty, Myopic astigmatism, Hepatosplenomegaly, Cholecystitis, Cholelit... OMIM:301066
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism, Retinal coloboma OMIM:601794
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Constipation, Prolonged neonatal jaundice, Hypercholest... ORPHA:90674
Refsum Disease, Classic
Cardiomyopathy, Cataract, Retinal degeneration, Cardiomegaly OMIM:266500
Galactosemia I
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotrans... OMIM:230400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... OMIM:614866
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology, Abnormali... ORPHA:2075
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Abnormal heart morphology... ORPHA:1867
Lathosterolosis
Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Intrahepatic cholestasis, Hepatosp... OMIM:607330
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Diarrhea, Elevated circulating creatinine concentration, Blood... ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Ascites OMIM:614702
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Corneal opacity, Cardiomegaly ORPHA:349
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cataract, Hypospadias, Ventricular septal defect, Abnormal pulmonary valve mo... ORPHA:567
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Mitral valve calcification, Corneal opacity, Splenomegaly, Aortic valve calcificatio... ORPHA:2072
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Cardiomegaly ORPHA:3137
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesicoureteral reflux... OMIM:619377
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Small for gestational age, Sle... OMIM:613658
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529799
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial septal defect OMIM:300712
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Optic atrophy, Abnormal atrial septum morphology, Prolonged ... ORPHA:909
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea... ORPHA:42
Metachromatic Leukodystrophy
Gallbladder dysfunction, Urinary incontinence, Cholecystitis OMIM:250100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Hematemesis, Abnormal renal cortex morpho... ORPHA:464321
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Astigmatism, Left vent... OMIM:617713
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Cirrhosis, L... ORPHA:57777
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... ORPHA:447
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:71275
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Gastroesophageal reflux, Intrah... OMIM:619534
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Neoplasm of the liver... ORPHA:77293
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Atrial septal defect,... ORPHA:163979
Hypothyroidism Due To Tsh Receptor Mutations
Constipation, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged n... ORPHA:90673
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... OMIM:617925
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Argininemia
Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diaminoaciduria, Portal fibros... OMIM:207800
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Tetralogy of Fallot, Iris coloboma ORPHA:3186
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili... OMIM:613610
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Perimembranous ventricular septal defect, Chol... ORPHA:83617
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatic failure OMIM:259720
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Hypergonadotropic hypogonadism, Decreased r... ORPHA:273
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperp... ORPHA:90041
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Bile duct proliferation OMIM:611134
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydro... ORPHA:79330
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... ORPHA:100086
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Digeorge Syndrome
Parathyroid agenesis, Ventricular septal defect, Sclerocornea, Splenomegaly, Tetralogy of Fallot,... OMIM:188400
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia OMIM:608885
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Megalocornea, Ove... ORPHA:904
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Retinal degeneration OMIM:610688
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, As... OMIM:616897
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, Cardiomegaly ORPHA:391428
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Trisomy 10P
Absent gallbladder, Rectovaginal fistula, Abnormal heart morphology ORPHA:171929
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Optic atrophy, Bile duct proliferation, Macrovesicular hepatic ste... OMIM:618329
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abn... ORPHA:887
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Bilater... OMIM:619488
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Tetrasomy 9P
Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atresia, Oligoz... ORPHA:3310
Transketolase Deficiency
Hepatomegaly, Cataract, Ventricular septal defect, Abnormal heart morphology, Conjunctivitis, Atr... ORPHA:488618
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... ORPHA:2969
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Optic atrophy, Cardiomegaly OMIM:619259
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Hypospadias, Overweight, Jaundice, Obesity, Hematuria, Vomiting, C... OMIM:619475
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatosplenomegaly, Hepatocellular necr... OMIM:618278
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neo... ORPHA:2869
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Peters-Plus Syndrome
Hypoplasia of the vagina, Cataract, Hypospadias, Bilobate gallbladder, Ventricular septal defect,... OMIM:261540
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea... OMIM:618500
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Ambiguous genitalia, Micropenis, Uroge... ORPHA:96176
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Zttk Syndrome
Atrial septal defect, Absent gallbladder, Optic atrophy, Ventricular septal defect OMIM:617140
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic... ORPHA:137675
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Unilateral renal agenesis, Conju... OMIM:620305
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Splenomegaly, Red-brown urine, Porphyrinuria, Incre... ORPHA:79277
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Ogden Syndrome
Global glomerulosclerosis, Microvesicular hepatic steatosis, Jaundice, Diarrhea, Dysphagia, Vomit... OMIM:300855
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Overriding aorta, Sclerocornea, Ovotestis, Ventricular septal defect, Hypo... OMIM:309801
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly ORPHA:168577
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micro... OMIM:610125
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Rett Syndrome
Increased serum pyruvate, Failure to thrive, Cholecystitis, Hyperammonemia ORPHA:778
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Splenomegaly, Pancreat... ORPHA:731
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity,... ORPHA:98908
Alagille Syndrome 1
Elevated hepatic transaminase, Cataract, Ventricular septal defect, Band keratopathy, Hepatocellu... OMIM:118450
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Cataract, Sclerocornea, Pancreatic c... ORPHA:564
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... ORPHA:308552
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Chronic constipation, Vesicoureteral reflux, Micropenis, Neonatal hyperbilirubinemia ORPHA:163956
Hypothyroidism, Congenital, Nongoitrous, 2
Constipation, Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Fanconi Anemia, Complementation Group Q
Biliary atresia, Primum atrial septal defect OMIM:615272
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Splenomegaly, Optic atrophy, Pigmentary re... ORPHA:581
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Ascites, Hepatic failure OMIM:608013
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Prolonged neonatal jaundice, Gastroesophageal reflux, Polycystic ki... OMIM:210710
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematur... ORPHA:781
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Johanson-Blizzard Syndrome
Hepatomegaly, Failure to thrive, Hypospadias, Elevated circulating aspartate aminotransferase con... OMIM:243800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Optic nerve hypoplasia, Optic atrophy, Abnormal heart morphology, Atrial sept... ORPHA:500150
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Remnant... OMIM:300166
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Keratoconjunctivitis, Chronic hepatitis, Cirrhos... OMIM:269200
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Pituitary adenoma, Neoplasm of the gallbladder, He... ORPHA:733
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ... OMIM:261515
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... ORPHA:42775
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve prolapse, Atrial septal... OMIM:245600
Fucosidosis
Splenomegaly, Hepatomegaly, Tortuosity of conjunctival vessels, Cardiomegaly OMIM:230000
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel... OMIM:620185
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormal heart valve morphology, Sclerocornea, Cryptorchidism, Abnormality of the ga... ORPHA:280
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Gastroesophageal reflux, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice OMIM:620186
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... OMIM:249000
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Opacification of the corne... OMIM:252500
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hypoplasia of penis, Cataract, Hypospadias, Ventricular septal defect, Scle... ORPHA:818
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cardiomegaly, Developmental glaucoma, Hepatosplenomegaly, Hypertro... ORPHA:51
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:619525
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Vesicovaginal fistula, Gastroesophageal reflux, Neonatal hype... OMIM:300896
Listeriosis
Liver abscess, Jaundice, Peritonitis, Diarrhea, Pyelonephritis, Hepatic granulomatosis, Vomiting,... ORPHA:533
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration... ORPHA:99827
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morph... ORPHA:436252
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Kawasaki Disease
Proteinuria, Jaundice, Diarrhea, Hepatitis, Sterile pyuria, Cholecystitis ORPHA:2331
Yunis-Varon Syndrome
Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Cardiomegaly, Cryptorchidism, Hyp... ORPHA:3472
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Chronic gastritis, Cholangiti... ORPHA:183675
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Cholecystitis ORPHA:309256
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Punctate o... OMIM:256040
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Cholecystitis ORPHA:309263
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... ORPHA:365
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Neurofibroma
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Anterior pituitary agenesis, Single ventr... OMIM:157170
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Retinal hemorrhage, Myocardial calci... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... 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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