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Gene: Sox17 MGI:107543

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SRY (sex determining region Y)-box 17
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Sox17 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 Sox17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vesicoureteral Reflux 3
OMIM:613674

The table below shows human diseases predicted to be associated to Sox17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... OMIM:600803
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hepatocellular Carcinoma
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis OMIM:114550
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... ORPHA:69663
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase OMIM:300752
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reduced haptoglobin level, Hepatomegaly, Unconj... OMIM:266200
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Decreased glucosephosphate isomerase level, Cholecystitis, Cholelit... OMIM:613470
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Hyperbilirubinemia, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:235700
Klatskin Tumor
Extrahepatic cholestasis, Jaundice, Hepatomegaly, Cholangiocarcinoma ORPHA:99978
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration OMIM:614156
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Ch... OMIM:619662
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated hepatic transaminase OMIM:602114
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasi... ORPHA:100086
Gracile Syndrome
Cholestasis, Increased serum iron, Increased serum pyruvate, Increased circulating ferritin conce... OMIM:603358
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... OMIM:602347
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... ORPHA:562639
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Elevated circula... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:620010
Glycogen Storage Disease Xii
Jaundice, Reduced haptoglobin level, Muscle fiber splitting, Myopathy, Elevated circulating alani... OMIM:611881
Autosomal Erythropoietic Protoporphyria
Abnormal circulating porphyrin concentration, Cirrhosis, Decreased liver function, Cholelithiasis... ORPHA:79278
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... ORPHA:65682
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... ORPHA:79302
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Mirizzi Syndrome
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Elevated ... ORPHA:521219
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Elevated circulating aspartate aminotransferase concentration, Intra... OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly OMIM:224100
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas ORPHA:3032
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:260370
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure, Eczema OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... OMIM:619658
Galactose Mutarotase Deficiency
Cholestasis, Hypergalactosemia, Hepatomegaly, Abnormal circulating enzyme concentration or activi... ORPHA:570422
Budd-Chiari Syndrome
Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho... ORPHA:131
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hypertriglycerid... OMIM:613027
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Ppoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi... ORPHA:97278
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... OMIM:616828
Alpha-1-Antitrypsin Deficiency
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly ORPHA:60
Caroli Syndrome
Cholangitis, Jaundice, Liver abscess, Intrahepatic cholestasis, Pancreatitis, Abnormality of the ... ORPHA:480520
Glycogen Storage Disease Vii
Jaundice, Gout, Hyperuricemia, Increased circulating lactate dehydrogenase concentration, Increas... OMIM:232800
Congenital Bile Acid Synthesis Defect Type 4
Rhabdomyolysis, Cholestatic liver disease, Elevated hepatic transaminase, Elevated circulating cr... ORPHA:79095
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Skin rash, Elevated hepatic transaminase, Hyperbil... ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Conjugated hy... OMIM:211600
Disorder Of Bile Acid Synthesis
Biliary tract abnormality, Cholestasis, Elevated hepatic transaminase, Abnormality of the liver ORPHA:79168
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Conjugated hy... ORPHA:567983
Alpha-Thalassemia
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly ORPHA:846
Triosephosphate Isomerase Deficiency
Jaundice, Death in adolescence, Myopathy, Skeletal muscle atrophy, Death in infancy, Prolonged ne... OMIM:615512
Hemochromatosis, Neonatal
Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Cirrhosis, Increased serum iron, Incr... OMIM:231100
Grfoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi... ORPHA:97261
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Unconjugated hy... ORPHA:79234
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Jaundice, Neoplasm of the liver, Elevated hepatic transaminase, Ovarian carci... ORPHA:1333
Somatostatinoma
Gallbladder dysfunction, Elevated circulating growth hormone concentration, Intermittent jaundice... ORPHA:97283
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Shoulder girdle muscle weakness, Myopathy, Hand muscle weakness, Hepatomega... ORPHA:98908
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Stomatitis ORPHA:438274
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619868
Gracile Syndrome
Death in early adulthood, Cholestasis, Decreased transferrin saturation, Cirrhosis, Increased cir... ORPHA:53693
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Colitis, Hepatomegaly, Hepatitis, Acne, Recurrent skin infec... OMIM:300635
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Splenomegaly ORPHA:848
Pancreatic Colipase Deficiency
Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309108
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Erysipelas, Hepatomegaly, Elevated hepatic transami... OMIM:214900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Cholestasis, Cholesterol gallstones, Hepatitis, Hypertri... ORPHA:209902
Isolated Biliary Atresia
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... ORPHA:30391
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Hepatitis, Increased circulating ferritin concentration, Cholelithiasis, ... OMIM:194380
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... ORPHA:79301
Caroli Disease
Cholangitis, Jaundice, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevated circulating... ORPHA:53035
Cholangiocarcinoma
Jaundice, Biliary tract neoplasm, Acholic stools ORPHA:70567
Spherocytosis, Type 1
Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly OMIM:182900
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Cir... OMIM:607765
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:618528
Lambert Syndrome
Cholestasis, Jaundice, Intrahepatic biliary atresia ORPHA:1296
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic t... ORPHA:79303
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Increased circulating renin level, Hyperkalemia, Glucocortocoid-insensitive pr... ORPHA:171876
Rett Syndrome
Increased serum pyruvate, Cholecystitis, Hyperammonemia, Skeletal muscle atrophy ORPHA:778
Vipoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Neoplasm of the liver, ... ORPHA:97282
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Elevated circulating alanine aminotransfe... OMIM:603471
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Glucagonoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Stomatitis, Intrahepati... ORPHA:97280
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... OMIM:607626
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Chronic sinusitis, Atopic dermatitis, Liver abscess, Skin rash, Arthritis, Recurrent... ORPHA:183675
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly, Skin rash OMIM:105200
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis, Recurrent sinusitis OMIM:614379
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 1
Cholestasis, Hepatomegaly, Fulminant hepatic failure OMIM:609060
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Death in childhood, Jaundice, Hyperammonemia, Cholestasis, Hepatic bridgin... OMIM:618641
Zollinger-Ellison Syndrome
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Jaundice, Pi... ORPHA:913
Q Fever
Hepatosplenomegaly, Myocarditis, Maculopapular exanthema, Endocarditis, Abnormality of the liver,... ORPHA:781
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemi... ORPHA:276152
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Portal hypertension, Cholecystitis, Cholelithiasis, Hepatic failure ORPHA:774
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency OMIM:201400
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Asplenia, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly... OMIM:208540
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Death in infanc... OMIM:613404
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Sickle Cell Anemia
Pigment gallstones, Cholestasis, Increased circulating lactate dehydrogenase concentration, Uncon... ORPHA:232
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Elevated circulating alanine aminotransferase concentration, Skeletal muscle atrophy... OMIM:614300
Bile Acid Synthesis Defect, Congenital, 4
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Hepatome... OMIM:214950
Nephronophthisis 18
Cholestasis, Portal fibrosis, Tubulointerstitial nephritis OMIM:615862
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Facial diplegia OMIM:160900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Elevated hepatic transaminase, Death in infancy, Conjugated ... OMIM:208085
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Hepatic bridging fibrosis, Elevated circulating alanine aminotransferase conc... OMIM:613759
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase ORPHA:100078
Jejunal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase ORPHA:100077
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Chronic hepatitis, Decreased circula... ORPHA:101330
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Biliary atresia, Absent gallbladder, Annu... OMIM:615710
Sialuria
Hepatosplenomegaly, Cholelithiasis, Hepatomegaly, Elevated hepatic transaminase ORPHA:3166
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Hashimoto thyroiditis, Abnormality of the ductus choledochus, Hepatitis... ORPHA:436252
Immunodeficiency 56
Cholangitis, Hepatic failure, Cirrhosis, Recurrent otitis media, Recurrent pneumonia, Bronchiecta... OMIM:615207
Listeriosis
Peritonitis, Myocarditis, Jaundice, Hepatic granulomatosis, Miscarriage, Liver abscess, Endocardi... ORPHA:533
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Intrahepatic cholestasis with episodic jaundic... ORPHA:100076
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Abnormality of the liver, Hypoparathyroid... ORPHA:231222
Gaisböck Syndrome
Increased circulating renin level, Gout, Hyperuricemia, Hypercholesterolemia, Hyperproteinemia, H... ORPHA:90041
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pitu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pitu... ORPHA:71526
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Bile duct proliferation, Right ventricular hypertrophy, Portal h... OMIM:267010
Cimdag Syndrome
Death in early adulthood, Cholelithiasis, Hepatomegaly, Microvesicular hepatic steatosis OMIM:619273
Hereditary Spherocytosis
Jaundice, Maculopapular exanthema, Gout, Hepatomegaly, Hyperbilirubinemia, Cholelithiasis, Spleno... ORPHA:822
Dehydrated Hereditary Stomatocytosis
Abnormal blood potassium concentration, Intermittent jaundice, Increased circulating lactate dehy... ORPHA:3202
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Meckel Syndrome, Type 6
Bile duct proliferation, Hepatic fibrosis, Absent gallbladder, Cystic liver disease, Hepatic cysts OMIM:612284
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil... OMIM:614886
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Elevated circulating creatine kinase concentration OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Hepatomegaly, Recurrent otitis media, Cholecystitis, Cholelithiasis OMIM:301066
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Glomerulonephriti... ORPHA:2137
Hereditary Elliptocytosis
Jaundice, Prolonged neonatal jaundice, Hyperbilirubinemia, Cholelithiasis, Neonatal hyperbilirubi... ORPHA:288
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hyperalaninemia, Elevated hepatic transaminase, Decreased liver function... OMIM:618329
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating creatine kinase concentratio... OMIM:611182
Macrophage Activation Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... ORPHA:158061
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Hashimoto thyroiditis, Fulminant hepatitis, Hepatomegaly, Elevated hepatic transaminase... OMIM:618549
Mednik Syndrome
Death in childhood, Increased circulating very long-chain fatty acid concentration, Cholestasis, ... OMIM:609313
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc... ORPHA:64743
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Abnormality of the liver, Hepatomegaly, Conjugated hyperbili... ORPHA:234
Primary Biliary Cholangitis
Hepatocellular carcinoma, Gastrointestinal inflammation, Jaundice, Abnormal circulating lipid con... ORPHA:186
North American Indian Childhood Cirrhosis
Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis OMIM:604901
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Cryptorchidism, Cholestasis, Death in infancy, Hepatomegaly, Neonatal death, Decre... OMIM:608104
Wilson Disease
Acute hepatic failure, Acute hepatitis, Jaundice, Proximal muscle weakness in lower limbs, Hepato... ORPHA:905
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Rhabdomyolysis, Increased sarcoplasmic glycogen, Abnormal erythrocyte e... ORPHA:370
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Cholestatic liver disease, Intestinal inflammation, Hepatic fibrosis, Chilbla... OMIM:619858
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hyperkalemia, Hepatitis, Hyponatremia, Decreased circulating cortiso... ORPHA:199296
Enteric Anendocrinosis
Portal hypertension, Cholestatic liver disease ORPHA:83620
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Isolated Sedoheptulokinase Deficiency
Diastasis recti, Cholestatic liver disease, Cholestasis, Steatorrhea, Hepatitis, Portal hypertens... ORPHA:440713
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Decreased response to growth hormone stimulati... OMIM:609734
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Abnormal biliary tract morphology, Cholelithiasis, Hepatosplenomegaly,... ORPHA:171
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Hyperbi... OMIM:616278
Kawasaki Disease
Myocarditis, Jaundice, Skin rash, Cheilitis, Arthritis, Hepatitis, Cholecystitis, Conjunctivitis,... ORPHA:2331
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Colitis, Infectious encephalitis, Viral hepatitis, Chroni... OMIM:209920
Combined Oxidative Phosphorylation Deficiency 21
Limb hypertonia, Hyperalaninemia, Neonatal death, Hyperprolinemia, Hepatic steatosis OMIM:615918
Familial Atrial Myxoma
Cholestasis, Jaundice, Bacterial endocarditis ORPHA:615
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis OMIM:616629
Cerebrotendinous Xanthomatosis
Lower limb muscle weakness, Tendon xanthomatosis, Abnormal circulating cholesterol concentration,... OMIM:213700
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stillbirth, Hepatic cysts, Malformation of... OMIM:615415
Sickle Cell Disease
Jaundice, Splenic infarction, Hepatomegaly, Cholelithiasis, Splenomegaly OMIM:603903
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Skin rash, Hepatomegaly, Elevated hepatic ... ORPHA:829
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Neonatal death OMIM:614870
Trichohepatoenteric Syndrome 2
Chronic hepatitis, Hepatomegaly, Colitis, Cirrhosis, Decreased serum iron OMIM:614602
17Q12 Microdeletion Syndrome
Cryptorchidism, Elevated hepatic transaminase, Pancreatic aplasia ORPHA:261265
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Asplenia, Chronic active hepatitis, Hypoparathyroidism, Chronic oral candid... OMIM:240300
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, My... OMIM:609015
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Cholestasis, Hypertyrosinemia, Elevated hepatic transaminase, Death in infancy, Cirrhos... OMIM:617156
Igg4-Related Kidney Disease
Chronic sinusitis, Inflammatory abnormality of the skin, Abnormality of mesentery morphology, Dec... ORPHA:449395
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Abnormal liver function tests ... OMIM:147480
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Nephritis, Bile duct proliferation, Hepatic fibrosis, Death in infancy, Conjugated hype... OMIM:208500
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Jaundice, Increased serum bile acid concentration... OMIM:614972
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Abnormal liver sonography, Elevated circulating aspartate aminotransfe... ORPHA:90003
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Abnormality of the diaphragm,... ORPHA:400
Congenital Enterovirus Infection
Myocarditis, Hyperammonemia, Skin rash, Cholestasis, Hepatitis, Infectious encephalitis, Hepatic ... ORPHA:292
Cirrhosis, Familial
Jaundice, Fulminant hepatitis, Cirrhosis, Micronodular cirrhosis, Biliary cirrhosis, Increased le... OMIM:215600
Retinitis Pigmentosa 89
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis OMIM:618955
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function OMIM:238970
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... ORPHA:247598
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Elevated circulating aspartate aminotransferase concentration, Chronic hepatitis,... OMIM:614921
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Hyper... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Hepatomegaly, Elevated hepatic transaminase, Ci... OMIM:614576
Argininemia
Hyperammonemia, Cholestasis, Hepatomegaly, Portal fibrosis, Hyperargininemia, Micronodular cirrhosis OMIM:207800
Avian Influenza
Rhabdomyolysis, Miscarriage, Elevated hepatic transaminase, Increased circulating lactate dehydro... ORPHA:454836
Griscelli Syndrome
Jaundice, Abnormal circulating lipid concentration, Hepatomegaly, Hepatitis, Splenomegaly ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Death in childhood, Intermittent jaundice, Intrahepatic cholestasis, He... OMIM:601847
Distal Duplication 5Q
Eczema, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Metachromatic Leukodystrophy
Hemobilia, Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology... ORPHA:512
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Peroxisome Biogenesis Disorder 13A (Zellweger)
Jaundice, Increased circulating very long-chain fatty acid concentration, Elevated circulating as... OMIM:614887
Autosomal Agammaglobulinemia
Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron... ORPHA:33110
Graft Versus Host Disease
Hepatosplenomegaly, Acute hepatitis, Jaundice, Gastrointestinal inflammation, Inflammatory abnorm... ORPHA:39812
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Crimean-Congo Hemorrhagic Fever
Myocarditis, Morbilliform rash, Jaundice, Orchitis, Hepatomegaly, Increased circulating lactate d... ORPHA:99827
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Citrullinemia, Type Ii, Neonatal-Onset
Hyperthreoninemia, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase conce... OMIM:605814
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Cholangitis, Jaundice, Cholestasis, Congenital hepatic fibrosis, Hepatic fibr... ORPHA:731
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Chronic hepatitis, Hepatomegaly, Enteroviral encephalitis, Cirrhosis, Splenomegaly, H... OMIM:308230
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Cholestasis, Decreased muscle mas... OMIM:261515
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Decreased testicular size, Cryptorchidism, Lower limb hypertonia, F... OMIM:300534
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Cholestasis, Hepatic fibrosis, Elevated hepatic transaminase, Esophagitis, He... ORPHA:541423
Interstitial Lung And Liver Disease
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Eleva... OMIM:615486
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Chronic oral candidiasis, Hepatitis, Recurrent pneumonia, Pneumonia, Otitis m... ORPHA:169160
Neonatal Lupus Erythematosus
Malar rash, Maculopapular exanthema, Abnormality of the liver, Cholestasis, Skin rash, Hepatomega... ORPHA:398124
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Hepatitis, Sin... ORPHA:47
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Elevated circulati... OMIM:610199
Immunodeficiency 47
Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Cholestasis,... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 12
Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated circulating ... OMIM:614924
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Pancreatic aplasia, Elevated circulating alanine aminotransferase concentrati... OMIM:618500
Cryoglobulinemic Vasculitis
Abnormality of the liver, Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Vira... ORPHA:91138
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology ORPHA:2470
Reynolds Syndrome
Jaundice, Calcinosis, Cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Hype... OMIM:613471
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Maculopapular exanthema, Skin rash, Hepatomegaly, Elevated h... ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Inflammation of the large intestine, Cholestasis, Hepatic fibrosis, Hepatomegaly... OMIM:615895
Hardikar Syndrome
Hepatosplenomegaly, Cholangitis, Jaundice, Pyelonephritis, Cholestasis, Portal inflammation, Bile... OMIM:301068
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Hyp... OMIM:235555
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Acute hepatic failure, Cholangitis, Camptodactyly, Cirrhosis, Hepatitis, Port... ORPHA:228426
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Nodular goiter ORPHA:1332
Lichen Planopilaris
Hepatitis ORPHA:525
Osteootohepatoenteric Syndrome
Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Hypokalemia, Portal fibrosis, Increas... OMIM:619377
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Neoplasm of th... ORPHA:77293
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease OMIM:610205
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... OMIM:243300
Senior-Boichis Syndrome
Hepatosplenomegaly, Cholestasis, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepa... ORPHA:84081
Aa Amyloidosis
Cholestasis, Hepatomegaly ORPHA:85445
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Abnormality of mesentery morphology, Cryptorchidism, Congenital d... ORPHA:2075
Legionnaires Disease
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Hyponatremia, Hepatitis, Infectious encephalit... ORPHA:549
Fucosidosis
Decreased muscle mass, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated hepatic transaminase, Periportal fibrosis, Conjugated hyperbil... OMIM:619484
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Skin rash, Decreased circulating beta-2-microglobulin level, Sinusitis, Rhini... ORPHA:572
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Joint contracture of the hand, Cholelithiasis, Conjunctivitis, Splenomegaly OMIM:263700
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Triploidy
Macroglossia, Cryptorchidism, Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallb... ORPHA:3376
Secondary Short Bowel Syndrome
Abnormal blood ion concentration, Cholestasis, Steatorrhea, Low plasma citrulline, Enterocolitis ORPHA:95427
Melioidosis
Liver abscess, Abnormal parotid gland morphology, Osteoarthritis, Parotitis, Hepatitis, Septic ar... ORPHA:31202
Autoimmune Polyendocrine Syndrome, Type Ii
Keratoconjunctivitis, Asplenia, Chronic hepatitis, Steatorrhea, Chronic mucocutaneous candidiasis... OMIM:269200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly ORPHA:5
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Small hypothenar eminence, Contractures of... ORPHA:96092
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Recurrent pancreatitis, Distal arthrogryposis, Hypoplastic nipples, Steatorrhea, He... OMIM:618268
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Anterior pituitary agenesis, Biliar... ORPHA:2255
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Jaundice, Bile duct proliferation, Hepatomegaly, Elevated hepatic transami... OMIM:203700
Mccune-Albright Syndrome
Goiter, Elevated circulating growth hormone concentration, Hypophosphatemia, Hepatocellular adeno... ORPHA:562
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Diffuse hepatic steatosis, Left ventricular hypertrophy, Cholestasis, Hypoparathy... ORPHA:746
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Myocarditis, Tubulointerstitial nephritis, Skin rash, Elevated hepatic tra... ORPHA:139402
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia, Congenital diaphragmatic hernia ORPHA:1335
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperecho... ORPHA:456312
Kennedy Disease
Abnormal circulating lipid concentration, Testicular atrophy, Decreased fertility, Erectile dysfu... ORPHA:481
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Bile duct proliferation, Elevated hepatic transaminase, Cirrhosis, Unconjugated hype... OMIM:613658
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Hepatomegaly, Cryptorchidism, Neonatal death OMIM:613730
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... ORPHA:171851
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Myositis, Arthritis, Elevated circulatin... ORPHA:36234
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatocellular carcinoma, Intrahepatic cholestasis, Cirrhosis, Portal hypertension, Hepatic failure OMIM:615878
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Donohue Syndrome
Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Skeletal muscle atrophy, Ovaria... OMIM:246200
Wilson Disease
Hypouricemia, Hypoparathyroidism, Hepatomegaly, Osteoarthritis, Acute hepatic failure, Elevated c... OMIM:277900
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Alstrom Syndrome
Hyperuricemia, Chronic active hepatitis, Tubulointerstitial nephritis, Multinodular goiter, Hepat... OMIM:203800
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Microsporidiosis
Peritonitis, Myocarditis, Abnormality of the spleen, Endocarditis, Lymphadenitis, Sinusitis, Kera... ORPHA:2552
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Elevated circulating aspartate aminotr... OMIM:256810
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Abnormal circulating lipid concentration, Acne ORPHA:3191
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubulointerstitial nephritis, Keratoconj... ORPHA:227990
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubulointerstitial nephritis, Keratoconj... ORPHA:227982
Lathosterolosis
Hepatosplenomegaly, Intrahepatic cholestasis, Elevated hepatic transaminase, Hyperbilirubinemia, ... OMIM:607330
Dominant Beta-Thalassemia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Hypopituitarism, Chronic hepatitis, Hypop... ORPHA:231226
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... ORPHA:168563
Cranioectodermal Dysplasia 2
Cholangitis, Left ventricular hypertrophy, Cholestasis, Bile duct proliferation, Hepatomegaly, El... OMIM:613610
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Arthritis, Hepatitis, Eczema, Erythroderma OMIM:304790
Aspergillosis
Hepatitis, Sinusitis, Infectious encephalitis, Bronchiectasis, Osteomyelitis, Pneumonia, Keratitis ORPHA:1163
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Hepatomegaly, Infectious encephalitis, Elevated circulating C-reactive prote... OMIM:308240
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... ORPHA:37042
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619525
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Torticollis, Unilateral facial palsy OMIM:619480
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Camptodactyly, Hashimoto thyroiditis, Hepatomegaly, Hepatitis, Portal hypertension, Hypersplenism... OMIM:613385
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Abnormal circulating citrulline concentration, Hepatomegaly, Elevated hepatic tra... ORPHA:415
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Neoplasm of the liver, Biliary tract obstruction, Intrahepatic cholestasis... ORPHA:100085
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Rhabdomyolysis, Tubulointerstitial nephritis, Cholestasis, Hypertyrosinemia, Elevate... OMIM:124000
Rift Valley Fever
Miscarriage, Jaundice, Skin rash, Uveitis, Elevated hepatic transaminase, Hepatitis, Infectious e... ORPHA:319251
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Liver Disease, Severe Congenital
Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Hepatomegaly,... OMIM:619991
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Hepatomegaly, Splenomegaly OMIM:610539
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hypocalcemia OMIM:300712
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Elevated circulating creatine kinase concentration, Neonatal death, Decreased l... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Elevated circulating creatine kinase concentration, Neonatal death, Decreased l... OMIM:618839
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Recurrent pneumonia, Contracture of the proximal interphalangeal joint of the 3rd... ORPHA:464738
Alagille Syndrome
Cholestasis, Reduced number of intrahepatic bile ducts, Hepatomegaly, Cryptorchidism ORPHA:52
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:608709
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Jaundice, Cryptorchidism, Elevated circulating phytanic acid concentration, D... OMIM:614866
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated hepatic transaminase, Abnormality of exocrine pancreas physiology, Hepatic ste... ORPHA:93111
Shigellosis
Peritonitis, Myocarditis, Abnormal blood ion concentration, Rhabdomyolysis, Cholestasis, Acute co... ORPHA:810
Fetal Gaucher Disease
Death in infancy, Hepatomegaly, Neonatal death, Stillbirth, Abnormality of the spleen, Flexion co... ORPHA:85212
Congenital Tufting Enteropathy
Steatorrhea, Cholestatic liver disease, Arthritis, Punctate keratitis ORPHA:92050
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating creatine kinase... OMIM:615980
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Superficial dermal perivascular inflammatory infiltrate, Cryptorchidism, C... ORPHA:83617
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hashimoto thyroiditis, Hypoparathyroidism, Decreased circulating cortisol level, H... ORPHA:199299
Ebola Hemorrhagic Fever
Hepatitis, Acute pancreatitis, Maculopapular exanthema ORPHA:319218
Nephronophthisis 13
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:614377
Myasthenia Gravis
Hepatitis, Myositis, Rheumatoid arthritis, Hashimoto thyroiditis ORPHA:589
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in childhood, Interface hepatitis, Hypoplasia of the thymus, Death in infancy, Psoriasiform... OMIM:243150
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Chronic Mucocutaneous Candidiasis
Hepatitis, Cheilitis, Skin rash ORPHA:1334
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, C... OMIM:618999
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Conjugated hyperbilirubinemia, Elevated c... OMIM:619534
Hypobetalipoproteinemia, Familial, 1
Elevated circulating aspartate aminotransferase concentration, Steatorrhea, Elevated circulating ... OMIM:615558
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Sinusitis, Recurren... OMIM:307200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death OMIM:617925
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Lower limb hypertonia, Congenital contracture, Cholelithiasi... ORPHA:97297
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia ORPHA:163979
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Trichohepatoenteric Syndrome 1
Jaundice, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hypermethioninemia, Cirrhosis, Increased s... OMIM:222470
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Mucopolysaccharidosis Type 7
Hepatitis, Splenomegaly ORPHA:584
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Weakness of facial musculature, Hepatomegaly, Prolonged neonatal jaund... OMIM:619418
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Cryptorchidism, Abnormality of t... ORPHA:887
Irida Syndrome
Decreased circulating copper concentration, Intrahepatic cholestasis ORPHA:209981
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Decreased liver function, Neonatal death OMIM:602199
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Primary amenorrhea, Decrea... ORPHA:243
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Hypocalcemic tetany, Atypical or prolonged hepatitis... ORPHA:83471
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Cholestasis, Recurrent otitis media, Bronchiectasis, Hepatomegaly OMIM:620233
Immunodeficiency 87 And Autoimmunity
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:619573
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Hypoplasia of the thymus, Jaundice, Cryptorchidism, Camptodactyly, Hepatomega... OMIM:214110
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Multiple joint contractures, Annular pancreas ORPHA:264450
Meckel Syndrome, Type 1
Camptodactyly of finger, Cryptorchidism, Asplenia, Bile duct proliferation, Accessory spleen, Spl... OMIM:249000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypocholesterolemia, Hepatomegaly, Neonatal death OMIM:618810
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatosplenomegaly, Bacterial endocarditis, Hepatic fibrosis, Abnormality of the spleen, Cholelit... ORPHA:2072
Leptospirosis
Rhabdomyolysis, Jaundice, Optic neuritis, Skin rash, Uveitis, Hyperproteinemia, Hepatomegaly, Hep... ORPHA:509
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Skin rash, Limb hypertonia, Hepatomegaly, Arthritis, Hepatitis, Chilblains, At... OMIM:615846
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Abnormality of the Achilles tendon, Distal amyotrophy, Prolonged neonatal j... ORPHA:909
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Decreased response to growth hormone stimulation test, ... ORPHA:1855
Trisomy 10P
Decreased muscle mass, Absent gallbladder, Camptodactyly ORPHA:171929
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Myopathy, Death in infancy, Hepatomegaly, Neonatal death, Stillbirth, Hepatic... OMIM:614922
Alagille Syndrome 1
Hepatocellular carcinoma, Cholestasis, Elevated hepatic transaminase, Prolonged neonatal jaundice... OMIM:118450
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic acid concentration, ... OMIM:618156
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Skin rash, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinem... ORPHA:79284
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Shoulder girdle muscle weakness, Facial dipleg... ORPHA:273
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Acute Disseminated Encephalomyelitis
Myelitis, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis ORPHA:83597
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, G... ORPHA:347
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Cholangitis, Inflammatory abnormality of the skin, Chronic hepatitis, Pancrea... ORPHA:3260
Relapsing Polychondritis
Myocarditis, Keratitis, Chondritis, Recurrent aphthous stomatitis, Scleritis, Uveitis, Arthritis,... ORPHA:728
Postinfectious Vasculitis
Gastrointestinal inflammation, Glomerulonephritis, Inflammatory abnormality of the skin, Orchitis... ORPHA:48435
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Aplasia of the left hemidiaphragm, Biliary atresia, Congenital diaphragmat... OMIM:600001
Gaucher Disease
Death in infancy, Hepatomegaly, Cirrhosis, Osteoarthritis, Hepatitis, Osteomyelitis, Elevated cir... ORPHA:355
Mody
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency ORPHA:552
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... ORPHA:2235
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Recurrent otitis media, Recurrent pneumonia, Inf... OMIM:300755
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Elevated circulating glutaric acid concentration, Neonatal death, Hepatic... OMIM:231680
Digeorge Syndrome
Hypoplasia of the thymus, Parathyroid hypoplasia, Parathyroid agenesis, Seborrheic dermatitis, Re... OMIM:188400
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... ORPHA:3464
Dextrocardia
Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen ORPHA:1666
Gaucher Disease Type 1
Biliary tract obstruction, Hepatomegaly, Osteoarthritis, Cirrhosis, Hypersplenism, Splenomegaly ORPHA:77259
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Immunodeficiency 82 With Systemic Inflammation
Skin rash, Colitis, Arthritis, Gastritis, Hepatitis, Recurrent otitis media, Pustular rash, Recur... OMIM:619381
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia, Hepatomegaly OMIM:266510
16P12.1P12.3 Triplication Syndrome
Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Decreased response to growt... ORPHA:485405
Primary Sjögren Syndrome
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Tubulointerstiti... ORPHA:289390
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... ORPHA:3130
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Alveolar Echinococcosis
Cholangitis, Jaundice, Biliary cirrhosis, Abnormality of the diaphragm, Liver abscess, Abnormal s... ORPHA:284
Simple Cryoglobulinemia
Arthritis, Membranoproliferative glomerulonephritis, Nephritis, Pericarditis, Viral hepatitis ORPHA:91139
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin-resistant diab... ORPHA:2298
Acute Liver Failure
Jaundice, Hyperammonemia, Skin rash, Elevated hepatic transaminase, Hepatitis, Hepatic periportal... ORPHA:90062
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... OMIM:194072
Peutz-Jeghers Syndrome
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, ... OMIM:175200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Hepatomegaly, Periportal fibrosis, Neonatal death, Portal hypertension, Pancrea... OMIM:263200
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Hypoplastic nipples ORPHA:480880
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Glomerulonephritis, Recurrent aphthous stomatitis, Uveitis, Hepatomegal... ORPHA:3261
Zygomycosis
Peritonitis, Myocarditis, Endocarditis, Pancreatitis, Colitis, Gastritis, Hepatitis, Sinusitis, I... ORPHA:73263
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Chronic otitis media, Cryptorchidism, Hypoparathyroidism, Arthritis, Ac... ORPHA:567
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Inflammatory abnormality of the skin, Hepatitis, Infectious encephalitis, Bro... ORPHA:391487
Neurofibroma
Abnormal biliary tract morphology, Recurrent otitis media, Enlargement of parotid gland ORPHA:252183
Chylomicron Retention Disease
Steatorrhea, Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hypertriglyc... ORPHA:71
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Occipital Horn Syndrome
Cholestasis, Jaundice, Hepatitis, Esophagitis ORPHA:198
Potocki-Lupski Syndrome
Hypocholesterolemia, Hypothyroidism OMIM:610883
Familial Adenomatous Polyposis
Goiter, Biliary tract obstruction, Pancreatitis, Hepatoblastoma, Cholangiocarcinoma, Pancreatic a... ORPHA:733
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... ORPHA:2232
Zttk Syndrome
Flexion contracture, Absent gallbladder OMIM:617140
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hepatic fibrosis, Hypoplasia of penis ORPHA:110
Cystic Fibrosis
Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Steatorrhea, Hepatomegaly, Cirrhosis, Recurr... OMIM:219700
Tetrasomy 9P
Jaundice, Cryptorchidism, Arthritis, Biliary atresia, Absent gallbladder, Myositis, Pericarditis ORPHA:3310
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Pancreatic hypoplasia, Retroperitoneal fibrosis, Hepatomegaly, Decreased resp... OMIM:602782
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Diabetes insipidus, Abetalipoproteinemia, Elevated circu... ORPHA:96180
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal liver lobulation, Cryptorchidism, Asplenia ORPHA:99776
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Polycystic ovaries, Hepatomegaly, Cirrhosis, Hyperinsul... ORPHA:79086
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholangitis, Hepatosplenomegaly, Macroglossia, Cholestasis, Congenital hepatic fibrosis, Hepatome... OMIM:266920
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Elevated hepatic transaminase, Biliary tract abnormality, Exocrine pancrea... OMIM:137920
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic calcification, Pancreatic pseudocyst OMIM:167800
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... ORPHA:103918
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Hypopituitarism, Hepatomegaly, Decreased response to growth hormone stimul... ORPHA:811
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Steatorrhea, Hepatic fibrosis, Hepatomegaly, Elevated hepatic tr... OMIM:212065
Wolf-Hirschhorn Syndrome
Chronic otitis media, Cryptorchidism, Congenital diaphragmatic hernia, Abnormality of the gallbla... ORPHA:280
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells ORPHA:99885
Sarcoidosis
Hypercalcemia, Erythema nodosum, Maculopapular exanthema, Abnormal liver parenchyma morphology, T... ORPHA:797
Williams Syndrome
Death in early adulthood, Chronic otitis media, Abnormal circulating lipid concentration, Cryptor... ORPHA:904
Familial Cervical Artery Dissection
Diabetes mellitus, Abnormal circulating lipid concentration ORPHA:36382
Abetalipoproteinemia
Steatorrhea, Decreased LDL cholesterol concentration, Hepatic fibrosis, Hepatomegaly, Elevated he... ORPHA:14
Lujo Hemorrhagic Fever
Myocarditis, Maculopapular exanthema, Skin rash, Fulminant hepatitis, Elevated hepatic transamina... ORPHA:319213
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Abnormality of the gallbladder, Cryptorchidism, Congenital diaphra... ORPHA:818
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Myocarditis, Inflammation of the large intestine, Fulminant hepatitis, Elevat... ORPHA:2442
Peters-Plus Syndrome
Biliary tract abnormality, Diastasis recti, Cryptorchidism, Bilobate gallbladder OMIM:261540
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cryptorchidism, Elevated 7-dehydrocholesterol, Hepatomegaly, Death in ... OMIM:270400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypercholesterolemia... ORPHA:567548
Cat Eye Syndrome
Biliary atresia OMIM:115470
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Alg12-Cdg
Cryptorchidism, Micropenis, Recurrent hypoglycemia, Elevated hepatic transaminase, Hypospadias, H... ORPHA:79324
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... ORPHA:99413
Turner Syndrome
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... ORPHA:881
Mosaic Monosomy X
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... ORPHA:99226
Degcags Syndrome
Hepatosplenomegaly, Cryptorchidism, Abnormal spleen morphology, Cholestasis, Hepatomegaly, Hyperb... OMIM:619488
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... ORPHA:572333
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Chronic otitis media, Flexion contracture, Cryptorchidism, Atopic dermatitis,... OMIM:619503
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma ORPHA:425
Overlap Myositis
Diabetes mellitus, Abnormal circulating lipid concentration, Elevated hepatic transaminase, Eleva... ORPHA:206572
Alström Syndrome
Hepatomegaly, Elevated circulating thyroid-stimulating hormone concentration, Elevated gamma-glut... ORPHA:64
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Hypocholesterolemia, Hypoplastic labia majora OMIM:244450
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... ORPHA:90363
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Hepatomegaly, Periportal fibrosis, Bicornuate uteru... ORPHA:79328
Leopard Syndrome 1
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... OMIM:151100
Tangier Disease
Hepatosplenomegaly, Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Hepatic steatosis, Azotemia OMIM:619321
Pmm2-Cdg
Elevated circulating growth hormone concentration, Decreased testicular size, Aspiration pneumoni... ORPHA:79318
Dubowitz Syndrome
Hypocholesterolemia, Cryptorchidism, Hypospadias OMIM:223370
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Hepatomegaly, Polysplenia, Biliary atresia, Abdominal situs inversus OMIM:306955
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Micropenis, Clitoral hypertrophy, Urogenital sinus anomaly, Chordee, Streak ovary... OMIM:618820
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Retrope... ORPHA:449432
Schinzel-Giedion Syndrome
Micropenis, Central hypothyroidism, Hepatoblastoma, Streak ovary, Annular pancreas, Hypospadias ORPHA:798
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cryptorchidism, Hepatomegaly, Hepatoblastoma OMIM:130650
Yellow Fever
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... ORPHA:99829
Vesicoureteral Reflux 3
OMIM:613674

Histopathology

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

There is no histopathology data for Sox17

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 Sox17.

No publications found that use IMPC mice or data for Sox17.

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
Sox17tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sox17tm173556(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sox17tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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