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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
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... OMIM:300752
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Reduced haptoglob... OMIM:266200
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced erythrocyte hexokinase activi... OMIM:235700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Decreased glucosephosphate isomerase level, Splenomegaly, Pigment galls... OMIM:613470
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Klatskin Tumor
Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatomegaly ORPHA:99978
Hyperbiliverdinemia
Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis OMIM:614156
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration OMIM:602114
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice... ORPHA:100086
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Glycogen Storage Disease Xii
Muscle fiber splitting, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate a... OMIM:611881
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ... OMIM:605479
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating ... ORPHA:79278
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Cholelithiasis OMIM:224100
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:260370
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczematoid dermatitis, Cholelithiasis, Hepatic failure OMIM:177000
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta... ORPHA:131
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:570422
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:69665
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating ... OMIM:232800
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Portal hypertension, Splenomegaly, Nodular regenerative hyperplasia of liver, Cholecystitis, Hepa... OMIM:620367
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Hepatomegaly, Chronic pancreatitis, Elevat... ORPHA:98908
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Death in adolescence, Death in infancy, Prolonged neonatal jaundice, Sp... OMIM:615512
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Grfoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Hepatosple... ORPHA:1333
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Somatostatinoma
Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfun... ORPHA:97283
Metachromatic Leukodystrophy
Reduced leukocyte arylsulfatase A activity, Gallbladder dysfunction, Cholecystitis OMIM:250100
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomega... OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero... OMIM:619868
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis ORPHA:848
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Gracile Syndrome
Cirrhosis, Death in early adulthood, Decreased transferrin saturation, Cholestasis, Elevated hepa... ORPHA:53693
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Hepatocellular carcinoma, Cholestasis, Bronchiec... ORPHA:60
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentratio... OMIM:194380
Vipoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulating gonadotro... ORPHA:97282
Cholangiocarcinoma
Acholic stools, Jaundice, Biliary tract neoplasm ORPHA:70567
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Cholestasis ORPHA:1296
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Spherocytosis, Type 1
Hyperbilirubinemia, Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Cholelithiasis, Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:171876
Pancreatic Colipase Deficiency
Steatorrhea, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Glucagonoma
Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulat... ORPHA:97280
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Myositis, Calf muscle hypertrophy, Elevated circulating creatine kinase concentr... ORPHA:565899
Rett Syndrome
Hyperammonemia, Increased serum pyruvate, Cholecystitis, Skeletal muscle atrophy ORPHA:778
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Vira... ORPHA:183675
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis OMIM:609060
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Amyloidosis, Familial Visceral
Skin rash, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Q Fever
Myocarditis, Pneumonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pe... ORPHA:781
Zollinger-Ellison Syndrome
Jaundice, Pituitary growth hormone cell adenoma, Esophagitis, Pituitary prolactin cell adenoma, P... ORPHA:913
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Death in childho... OMIM:618641
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly ORPHA:444463
Multiple Endocrine Neoplasia Type 4
Parathyroid carcinoma, Testicular neoplasm, Pituitary growth hormone cell adenoma, Abnormality of... ORPHA:276152
Acth Deficiency, Isolated
Jaundice, Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency OMIM:201400
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Myotonic Dystrophy 1
Facial diplegia, Testicular atrophy, Cholelithiasis OMIM:160900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Nephronophthisis 18
Cholestasis, Portal fibrosis, Tubulointerstitial nephritis OMIM:615862
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Increased circulating ferritin concentration, Elevated circulating ... ORPHA:101330
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Extrahepatic cholestasis, Hepatic failure ORPHA:100078
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Absent... OMIM:615710
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent pneumonia, Recurrent si... OMIM:615207
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Hypercholesterolemia, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hyp... OMIM:620454
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hashimoto thyroiditis, Psoriasiform dermatitis, Abn... ORPHA:436252
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Death in childhood, Elevated circulating alanine ... OMIM:613759
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Cholestasis, Pitu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Cholestasis, Pitu... ORPHA:71526
Listeriosis
Myocarditis, Jaundice, Liver abscess, Pyelonephritis, Arteritis, Splenic abscess, Miscarriage, Pe... ORPHA:533
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis, Death in early adulthood OMIM:619273
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 59
Hyperalaninemia, Cholelithiasis OMIM:620646
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice OMIM:245550
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Gout, Maculopapular exa... ORPHA:822
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Elev... OMIM:614886
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension ORPHA:83620
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis, Biliary tract o... ORPHA:77259
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Cholecystitis OMIM:301066
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated circulating creatine kinase concentration, Elevated serum transamin... OMIM:611182
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Cholelithiasis OMIM:618775
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Camptodactyly, Death in infancy, Neonatal de... OMIM:608104
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple... ORPHA:171
Mednik Syndrome
Cirrhosis, Death in childhood, Increased circulating very long-chain fatty acid concentration, Ch... OMIM:609313
Cadds
Cholestasis, Increased circulating very long-chain fatty acid concentration, Elevated circulating... ORPHA:369942
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Portal vein thrombosis, Increased circulating lactate dehy... ORPHA:3202
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hyponatremia, Hepatitis, Decreased circulating cortisol level ORPHA:199296
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Chilblains, Hepatosplenomegaly, Membranoproli... OMIM:619858
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Igg4-Related Kidney Disease
Decreased liver function, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine c... ORPHA:449395
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, Co... ORPHA:294
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Cholestasis, Diastasis recti, Portal hypertension, Flexio... ORPHA:440713
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Biliary tract abnormality, Infec... OMIM:209920
Kawasaki Disease
Myocarditis, Cheilitis, Jaundice, Elevated circulating C-reactive protein concentration, Arthriti... ORPHA:2331
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hep... ORPHA:186
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concent... OMIM:607330
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Familial Atrial Myxoma
Bacterial endocarditis, Jaundice, Cholestasis ORPHA:615
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Combined Oxidative Phosphorylation Deficiency 21
Limb hypertonia, Hyperalaninemia, Neonatal death, Hyperprolinemia, Hepatic steatosis OMIM:615918
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis, Tubulointerstitial nephritis OMIM:616629
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly OMIM:603903
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of... OMIM:615415
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Neonatal death OMIM:614870
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Xanthelasma, Cholelithiasis, Abnormal circulating cholesterol concentration... OMIM:213700
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Prolonged neonatal jaundice, Splenomegaly, Neonatal... ORPHA:288
17Q12 Microdeletion Syndrome
Cryptorchidism, Elevated circulating hepatic transaminase concentration, Pancreatic aplasia ORPHA:261265
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Chronic hepatitis, Decreased circulating iron concentration, Colitis OMIM:614602
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Cholestasis, Elevated circulating creati... OMIM:609015
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m... OMIM:240300
Alpha-Thalassemia
Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Cirrhosis, Familial
Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Biliary c... OMIM:215600
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Death in infancy, Nephritis, Conjuga... OMIM:208500
Congenital Enterovirus Infection
Myocarditis, Skin rash, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatitis, Infectious encep... ORPHA:292
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia OMIM:238970
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Avian Influenza
Elevated circulating hepatic transaminase concentration, Myelitis, Elevated circulating C-reactiv... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul... OMIM:614576
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he... ORPHA:264580
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Unconjugated hyperbilirubinemia, Increased circulat... ORPHA:232
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Argininemia
Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Cholestasis, Hyperargininem... OMIM:207800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:615630
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal circulating enzyme concentration or activity, Ab... ORPHA:512
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Splenomegaly, Hepatitis ORPHA:381
Distal Duplication 5Q
Eczematoid dermatitis, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abn... OMIM:614972
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Elevated circulati... OMIM:615486
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Hepatom... OMIM:614887
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Myocarditis, Jaundice, Hepatomegaly, Parotitis, Acute pancreatitis, Elevated c... ORPHA:99827
Graft Versus Host Disease
Gastrointestinal inflammation, Dupuytren contracture, Jaundice, Elevated circulating hepatic tran... ORPHA:39812
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Esophagitis, Hepatosplenome... ORPHA:541423
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Stomatitis, Enterovira... OMIM:308230
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Thyroiditis, Portal hypertension, Camptodactyly, Hepatosplenomegaly, Acut... ORPHA:228426
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Facial hypotonia, Decreased testicular size, Lower limb hypertonia, Flexion contr... OMIM:300534
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Increased serum bile acid concentration, Periportal fibrosis, Cholestasis,... ORPHA:731
Reynolds Syndrome
Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Stea... OMIM:613471
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenome... OMIM:263700
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Cryoglobulinemic Vasculitis
Hepatomegaly, Arthritis, Viral hepatitis, Splenomegaly, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
X-Linked Agammaglobulinemia
Chronic otitis media, Hypocalcemia, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Conjunc... ORPHA:47
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea... OMIM:618500
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology ORPHA:2470
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Death in childhood, Hepatocellular carcinoma, ... OMIM:601847
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Recurrent pneumonia, Hepatosplenomegaly, Otitis media, Pn... ORPHA:169160
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla... OMIM:610199
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir... ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Cholestas... OMIM:615895
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Elevated circulating hepatic... ORPHA:829
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Portal hypertens... ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Ragged-red muscle fibers, Cholestasis, Elevated c... OMIM:614924
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Cholecystitis... ORPHA:774
Aa Amyloidosis
Hepatomegaly, Cholestasis ORPHA:85445
Hardikar Syndrome
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:301068
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Alagille Syndrome 2
Cholestatic liver disease, Cholestasis OMIM:610205
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Pheochromocytoma, Nodular goiter, Primary hyperparathyroidism ORPHA:1332
Lichen Planopilaris
Hepatitis ORPHA:525
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip... ORPHA:77293
Fucosidosis
Decreased muscle mass, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Pericarditis, Hyponatremia, Endocarditis, Splenomegaly, Hepa... ORPHA:549
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sclerosing cholangitis, Skin rash, Chronic mucocutaneous candidiasis, Sinusit... ORPHA:572
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormal mesentery morphology, C... ORPHA:2075
Secondary Short Bowel Syndrome
Steatorrhea, Cholestasis, Enterocolitis, Abnormal blood ion concentration, Low plasma citrulline ORPHA:95427
Coach Syndrome 2
Elevated circulating creatinine concentration, Portal fibrosis, Elevated circulating hepatic tran... OMIM:619111
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine... ORPHA:2255
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly ORPHA:5
Melioidosis
Pneumonia, Liver abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Splenic ab... ORPHA:31202
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asplenia, Chroni... OMIM:269200
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Macrog... ORPHA:3376
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Pus... ORPHA:139402
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Cholestasis, Abnormal testis morphology, Hyperplasia of the... ORPHA:562
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Contractures of the large joints, Cryptorchidism, Aplasia/Hypoplasia o... ORPHA:96092
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Hepatomegaly, Recurrent otitis media, Increased serum bile... OMIM:618268
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Chronic hepatic failure, Cholestasis, Lower limb muscle weaknes... ORPHA:746
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Biliary tract neoplasm, Enlarged polycystic ovaries, Pancreatic a... ORPHA:2869
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:613658
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Pentalogy Of Cantrell
Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia ORPHA:1335
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Hepatomegaly, Neonatal death, Cryptorchidism OMIM:613730
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Donohue Syndrome
Cholestasis, Ovarian cyst, Skeletal muscle atrophy, Hepatic fibrosis, Pancreatic islet-cell hyper... OMIM:246200
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Elevated circulating creatinine concentration, Myositis, Arthritis, Skin ... ORPHA:36234
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Tubulointerstitial nephritis, Anterior pitui... ORPHA:227990
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... 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, Second... OMIM:619203
Aspergillosis
Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Pneumonia, Hepatitis, Infectious encephalitis ORPHA:1163
Microsporidiosis
Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia... ORPHA:2552
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Acute Generalized Exanthematous Pustulosis
Cheilitis, Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly de... ORPHA:293173
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Acne ORPHA:3191
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypoparathyroidism, Abnormality of iron homeostasis, Hypoplasia of the muscu... ORPHA:231226
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Tubulointerstitial nephritis, Anterior pitui... ORPHA:227982
Gaucher Disease
Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis, Elevated circul... ORPHA:355
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Camptodactyly, Hashimoto thyroiditis, Splenomegaly, Hepatitis,... OMIM:613385
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hepatomegaly, Elevated circulating C-reactive protein concentration, Minimal change glomeruloneph... OMIM:620565
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Abnormal blood ion concent... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent otitis media, El... OMIM:619525
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Eczematoid dermatitis, Erythroderma, Hepatitis, Glomerulonephritis OMIM:304790
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Unilateral facial palsy, Torticollis OMIM:619480
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Portal hypertension, Hepatic failure OMIM:615878
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL chol... OMIM:616834
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:415
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E... OMIM:124000
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Splenom... OMIM:308240
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Contracture of the proximal interphalangeal joint of the 3rd finger, Choleli... ORPHA:464738
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Elevated circulating creatine kinase concentration, Death in infancy, N... OMIM:618835
Rift Valley Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Skin rash, Miscarriage, Hepati... ORPHA:319251
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Elevated circulating creatine kinase concentration, Death in infancy, N... OMIM:618839
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Intrahepa... OMIM:614866
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, H... OMIM:277900
Alagille Syndrome
Reduced number of intrahepatic bile ducts, Hepatomegaly, Cholestasis, Cryptorchidism ORPHA:52
Shigellosis
Myocarditis, Abnormal blood ion concentration, Acute colitis, Arthritis, Splenic abscess, Cholest... ORPHA:810
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hypocalcemia OMIM:300712
Congenital Tufting Enteropathy
Cholestatic liver disease, Arthritis, Steatorrhea, Punctate keratitis ORPHA:92050
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Polycystic ovaries, Diabetes mellitus, Hepatic steatosis OMIM:608709
Fetal Gaucher Disease
Stillbirth, Hepatomegaly, Death in infancy, Neonatal death, Abnormality of the spleen, Splenomega... ORPHA:85212
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Eleva... ORPHA:93111
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Seborrheic dermatitis, Pancreatic hypoplasia, Superficial dermal pe... ORPHA:83617
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Breast hypopl... ORPHA:432
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Skin rash ORPHA:1334
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Maculopapular exanthema ORPHA:319218
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Elevated circulating C-reactive protein concentration, Congenital hydroce... OMIM:620376
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyperuricemia, Adrenocorticotropic hormone deficiency, Hashimoto thyroiditis,... ORPHA:199299
Nephronophthisis 13
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:614377
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypermethioninemia, Cholestas... OMIM:222470
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in childhood, Hypoplasia of the thymus, Death in infancy, Enterocolitis, Psoriasiform derma... OMIM:243150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Bronchiectasis, Hepatomegaly, Cholestasis, Recurrent otitis media OMIM:620233
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Facial hypotonia, Bilateral wrist flexion contracture, Congenit... ORPHA:97297
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Hep... OMIM:618999
Myasthenia Gravis
Myositis, Hashimoto thyroiditis, Hepatitis, Rheumatoid arthritis ORPHA:589
Mucopolysaccharidosis Type 7
Hepatitis, Splenomegaly ORPHA:584
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Pneumonia, Pyoderma, Recurrent otitis medi... OMIM:307200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death OMIM:617925
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hyperbilirubinemia, Cryptorchidism, Hypocalcemia ORPHA:163979
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micro... OMIM:619418
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Absenc... ORPHA:251510
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormality of the pancreas, Cry... ORPHA:887
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:616307
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, At... ORPHA:83471
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Rhabdomyolysis, Neonatal death OMIM:602199
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Neonatal death, Hydrocele testis OMIM:618810
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Death in childhood, Intrahepatic biliary dysgenesis, Hypoplasia of the th... OMIM:214110
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Cholelithiasis, Abnormal circulating enzyme concentration or activity, Dist... ORPHA:909
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration... OMIM:620300
Trisomy 8P
Annular pancreas, Cryptorchidism, Multiple joint contractures, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Leptospirosis
Jaundice, Hepatomegaly, Optic neuritis, Skin rash, Pericarditis, Rhabdomyolysis, Elevated serum t... ORPHA:509
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Bile duct proliferation, Camptodactyly of finger, Splenomegaly, Eleva... OMIM:249000
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Limb hypertonia, Arthritis, Skin rash, Chilblains, Atopic dermatitis, Hepatitis, Sp... OMIM:615846
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Bacterial endocarditis, Hepatosplenomegaly, Abnormality of the spleen, Splenomega... ORPHA:2072
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Elevat... OMIM:203800
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Arthritis, Skin rash, Pneumonia, Juvenile ... ORPHA:1855
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Stillbirth, Hepatomegaly, Death in childhood, Death in infancy, Neonata... OMIM:614922
Trisomy 10P
Absent gallbladder, Decreased muscle mass, Camptodactyly ORPHA:171929
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Mody
Hepatocellular adenoma, Pancreatic hypoplasia, Exocrine pancreatic insufficiency ORPHA:552
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit... ORPHA:3260
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Stomatitis, Skin rash, Elevated circulating palmitoleylcarnitine concentrati... ORPHA:79284
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Optic neuritis, Myelitis, Viral hepatitis ORPHA:83597
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Pancreatic hypoplasia, Aplasia of the left hemi... OMIM:600001
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Elevated circulating methylsuccinic ac... OMIM:618156
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Postinfectious Vasculitis
Gastrointestinal inflammation, Elevated circulating C-reactive protein concentration, Abnormal ci... ORPHA:48435
Relapsing Polychondritis
Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Episc... ORPHA:728
Primary Sjögren Syndrome
Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Parotitis, Thyroiditis, Arthritis,... ORPHA:289390
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Prostatitis, Hepatocellular carcinoma, Enteroviral hepatitis, B... OMIM:300755
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Digeorge Syndrome
Recurrent otitis media, Acne, Cholelithiasis, Hypocalcemia, Seborrheic dermatitis, Hypoplasia of ... OMIM:188400
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Decreased response to growth ... ORPHA:3464
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormality of the spleen ORPHA:1666
16P12.1P12.3 Triplication Syndrome
Abnormal intrahepatic bile duct morphology, Decreased response to growth hormone stimulation test... ORPHA:485405
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Neonatal death, Elevated circulating glutari... OMIM:231680
Alveolar Echinococcosis
Decreased liver function, Jaundice, Liver abscess, Cholangitis, Abnormality of the diaphragm, Abn... ORPHA:284
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Gastritis, Elevated circulating C-reactive protein concentration, Crohn's... OMIM:619381
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circul... ORPHA:2298
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hepatomegaly, Hypocholesterolemia OMIM:266510
Neurofibroma
Abnormal biliary tract morphology, Recurrent otitis media, Enlargement of parotid gland ORPHA:252183
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Acute Liver Failure
Jaundice, Elevated circulating hepatic transaminase concentration, Skin rash, Hepatic periportal ... ORPHA:90062
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, ... OMIM:175200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Portal hypertension, Neonatal death, Splenomegaly, Hepatic cys... OMIM:263200
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Hypoplastic nipples ORPHA:480880
Zygomycosis
Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Splenic abscess, Sin... ORPHA:73263
Simple Cryoglobulinemia
Arthritis, Viral hepatitis, Pericarditis, Nephritis, Membranoproliferative glomerulonephritis ORPHA:91139
Alkaptonuria
Prostatitis, Black pigment gallstones, Arthritis, Thickened Achilles tendon, Tendon rupture, Oste... ORPHA:56
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Biliary cirrhosis, Recurrent pneumonia, Hepat... OMIM:219700
22Q11.2 Deletion Syndrome
Chronic otitis media, Hypoparathyroidism, Cholelithiasis, Hypocalcemia, Seborrheic dermatitis, Ar... ORPHA:567
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Enterocolitis, Inflammator... ORPHA:391487
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia OMIM:610883
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Recurrent aphthous stomatitis, Panniculitis, Thyroiditis, Colitis, Hepat... ORPHA:3261
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Biliary tract abn... OMIM:137920
Occipital Horn Syndrome
Jaundice, Cholestasis, Esophagitis, Hepatitis ORPHA:198
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Tetrasomy 9P
Jaundice, Biliary atresia, Myositis, Arthritis, Pericarditis, Absent gallbladder, Cryptorchidism,... ORPHA:3310
Zttk Syndrome
Absent gallbladder, Flexion contracture OMIM:617140
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Pancreatic hypoplasia, Hepat... OMIM:602782
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Hyp... ORPHA:96180
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepati... ORPHA:71
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Cholestasis, Congenital hepatic fibrosis, Hepatosplenomegaly, Hepatic ... OMIM:266920
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:608776
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Hepa... ORPHA:79086
Mosaic Trisomy 9
Camptodactyly of finger, Cryptorchidism, Abnormal liver lobulation, Asplenia ORPHA:99776
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... ORPHA:811
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Steatorrhea, Elevated circulating hepatic transaminase concentra... OMIM:212065
Isolated Permanent Neonatal Diabetes Mellitus
Reduced pancreatic beta cells, Pancreatic hypoplasia ORPHA:99885
Wolf-Hirschhorn Syndrome
Chronic otitis media, Congenital diaphragmatic hernia, Abnormality of the gallbladder, Cryptorchi... ORPHA:280
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi... ORPHA:1772
Williams Syndrome
Chronic otitis media, Abnormal circulating lipid concentration, Cholelithiasis, Death in early ad... ORPHA:904
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom... ORPHA:797
Abetalipoproteinemia
Steatorrhea, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, De... ORPHA:14
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reac... ORPHA:319213
Bardet-Biedl Syndrome
Hypertriglyceridemia, Hydrometrocolpos, Decreased HDL cholesterol concentration, Impaired fasting... ORPHA:110
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Abnormality of the gallbladder, Congenit... ORPHA:818
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Recurrent otitis media, Death in infancy, Ecz... OMIM:270400
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Limb hypertonia, Splenic cyst, Hepatic sinusoidal dilatation, Cryptorchidism OMIM:620371
Cat Eye Syndrome
Biliary atresia OMIM:115470
Peters-Plus Syndrome
Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism, Diastasis recti OMIM:261540
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Hypospadias, Hyponatremia, Recurrent hyp... ORPHA:79324
Degcags Syndrome
Hepatomegaly, Hyperbilirubinemia, Cholestasis, Abnormal spleen morphology, Rhinitis, Hepatospleno... OMIM:619488
Alopecia Universalis
Abnormal circulating lipid concentration, Type I diabetes mellitus, Abnormality of the thyroid gland ORPHA:701
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Decreased response to growth hormone stimulation test, Recurrent otitis med... OMIM:619503
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Increased circulating gonado... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Increased circulating gonado... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Increased circulating gonado... ORPHA:99228
Monosomy X
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Increased circulating gonado... ORPHA:99226
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Xanthelasma, Decreased HDL cholesterol concentration ORPHA:425
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Re... ORPHA:64
Overlap Myositis
Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating hepatic transam... ORPHA:206572
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Hypoplastic labia majora, Clitoral hypertrophy OMIM:244450
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced ... ORPHA:90363
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hypoplasia of the ovary, Decreased testicular size, Hepatic steatosis, Micropenis OMIM:619321
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uteru... ORPHA:79328
Leopard Syndrome 1
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism, Micropen... OMIM:151100
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Abdominal situs inversus OMIM:306955
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, Re... ORPHA:79318
Dubowitz Syndrome
Hypocholesterolemia, Cryptorchidism, Hypospadias OMIM:223370
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Central hypothyroidism, Hepatoblastoma, Streak ovary, Micropenis ORPHA:798
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia OMIM:130650
Yellow Fever
Jaundice, Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevat... 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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