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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr... OMIM:300752
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Splenome... OMIM:266200
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... OMIM:235700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... OMIM:613470
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Hyperbiliverdinemia
Cholestasis, Elevated circulating biliverdin concentration, Cholelithiasis, Decreased liver function 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 neoplasm, Elevated gamma-glutamyltransferase level, Cholecystitis, Elevated alkalin... ORPHA:100086
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Increased circulating lactate deh... OMIM:611881
Gracile Syndrome
Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul... OMIM:603358
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Abnormal circulating porphyrin c... ORPHA:79278
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elev... ORPHA:521219
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly OMIM:224100
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczematoid dermatitis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Galactose Mutarotase Deficiency
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating cortisol level... ORPHA:97278
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Hyp... ORPHA:69665
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Increased circulating lactate deh... OMIM:232800
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:98908
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Triosephosphate Isomerase Deficiency
Cholelithiasis, Skeletal muscle atrophy, Cholecystitis, Splenomegaly, Death in infancy, Myopathy,... OMIM:615512
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97283
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating cortisol level... ORPHA:97261
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Metachromatic Leukodystrophy
Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis OMIM:250100
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis ORPHA:848
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Death in early adulthood, Hepatic stea... ORPHA:53693
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... ORPHA:60
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... OMIM:194380
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:171876
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Vipoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97282
Lambert Syndrome
Cholestasis, Jaundice, Intrahepatic biliary atresia ORPHA:1296
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis, Steatorrhea ORPHA:309108
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly OMIM:182900
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Stomatitis, Increased circulating prolactin concentr... ORPHA:97280
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Rett Syndrome
Hyperammonemia, Increased serum pyruvate, Skeletal muscle atrophy, Cholecystitis ORPHA:778
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Combined Oxidative Phosphorylation Deficiency 1
Cholestasis, Hepatomegaly, Fulminant hepatic failure OMIM:609060
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Skin rash, Splenomegaly OMIM:105200
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin... ORPHA:913
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary adenoma, Parathyroid carcinoma, Pituitary prolactin cell adenoma, ... ORPHA:276152
Acth Deficiency, Isolated
Cholestasis, Jaundice, Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level OMIM:201400
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Facial diplegia OMIM:160900
Nephronophthisis 18
Cholestasis, Portal fibrosis, Tubulointerstitial nephritis OMIM:615862
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... ORPHA:3166
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Gaisböck Syndrome
Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia,... ORPHA:90041
Ileal Neuroendocrine Tumor
Hepatic failure, Elevated circulating hepatic transaminase concentration, Extrahepatic cholestasis ORPHA:100078
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbladder, Bil... OMIM:615710
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Hypoplasia of the ... ORPHA:436252
Meckel Syndrome, Type 7
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert... OMIM:267010
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Cholestasis, Gon... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Cholestasis, Gon... ORPHA:71526
Listeriosis
Pneumonia, Arteritis, Septic arthritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Rhabdomyoly... ORPHA:533
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Death in early adulthood, Microvesicular hepatic steatosis OMIM:619273
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Ab... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Hyperalaninemia OMIM:620646
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Hereditary Spherocytosis
Cholelithiasis, Hyperbilirubinemia, Gout, Splenomegaly, Hepatomegaly, Jaundice, Maculopapular exa... ORPHA:822
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension ORPHA:83620
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi... OMIM:614886
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Hepatomegaly OMIM:301066
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Increased ... ORPHA:77259
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Mednik Syndrome
Hepatic fibrosis, Cholestasis, Death in childhood, Death in infancy, Neonatal death, Cirrhosis, I... OMIM:609313
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Elevated circulating creatine kinase concentration OMIM:618775
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Cadds
Cholestasis, Cholangitis, Increased circulating very long-chain fatty acid concentration, Elevate... ORPHA:369942
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... ORPHA:234
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased circulating lactate dehydrogenase concentr... ORPHA:3202
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat... OMIM:619858
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis ORPHA:199296
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Diastasis recti, Portal hypertension, Steatorr... ORPHA:440713
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... ORPHA:449395
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Hyperbilirubinemia, Decreased... OMIM:609734
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C... OMIM:209920
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltra... ORPHA:186
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Ele... ORPHA:2331
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Familial Atrial Myxoma
Cholestasis, Jaundice, Bacterial endocarditis ORPHA:615
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis OMIM:616629
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Neonatal death, Hyperprolinemia, Hyperalaninemia, Limb hypertonia OMIM:615918
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Neonatal death OMIM:614870
Cerebrotendinous Xanthomatosis
Cholelithiasis, Tendon xanthomatosis, Abnormal circulating cholesterol concentration, Lower limb ... OMIM:213700
17Q12 Microdeletion Syndrome
Elevated circulating hepatic transaminase concentration, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Hereditary Elliptocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal... ORPHA:288
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis OMIM:614602
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... OMIM:240300
Alpha-Thalassemia
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Abnormal... ORPHA:400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Nephritis, Death in infancy, Bile duct proliferation, Pancreatic fibrosis, Jaun... OMIM:208500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Increased level of propylene glycol in blood, Cirrhosi... OMIM:215600
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Hyperammonemia, Skin rash, Infectious e... ORPHA:292
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly OMIM:238970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:264580
Avian Influenza
Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... OMIM:614576
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena... ORPHA:232
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... ORPHA:247598
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hepatomeg... OMIM:207800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly OMIM:615630
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Hemobilia, Neoplasm of the gallbladder, Ab... ORPHA:512
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Cryptorchidism ORPHA:96097
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Griscelli Syndrome
Hepatitis, Abnormal circulating lipid concentration, Splenomegaly, Hepatomegaly, Jaundice ORPHA:381
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr... ORPHA:33110
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... OMIM:614972
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph... OMIM:615486
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate... OMIM:614887
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Increased circulating lactate dehydrogenase concentration, Conjunctivitis, Parot... ORPHA:99827
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep... OMIM:308230
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... OMIM:261515
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos... ORPHA:228426
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil... OMIM:613471
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Distal lower limb amyotrophy, Cryptorchidism, Facial h... OMIM:300534
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Recurrent pneumonia, Elevated gamma-glutamyltransferase le... ORPHA:731
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... ORPHA:91138
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... OMIM:618500
Porphyria, Congenital Erythropoietic
Cholelithiasis, Joint contracture of the hand, Conjunctivitis, Elevated circulating uroporphyrin ... OMIM:263700
Matthew-Wood Syndrome
Abnormal spleen morphology, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas ORPHA:2470
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent cutaneous absce... ORPHA:47
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Death in childhood, Intermittent jaundice, Elevated circu... OMIM:601847
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum... OMIM:619377
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ragged-red muscle fib... OMIM:614924
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... ORPHA:774
Aa Amyloidosis
Cholestasis, Hepatomegaly ORPHA:85445
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Alagille Syndrome 2
Cholestatic liver disease, Cholestasis OMIM:610205
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Abnormal liver parenchyma morphology, Primary hyperparathyroidism ORPHA:1332
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Lichen Planopilaris
Hepatitis ORPHA:525
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Decreased muscle mass ORPHA:349
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocarditis, Jaundi... ORPHA:549
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Decreased circulating beta-... ORPHA:572
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, C... ORPHA:2075
Secondary Short Bowel Syndrome
Cholestasis, Low plasma citrulline, Enterocolitis, Steatorrhea, Abnormal blood ion concentration ORPHA:95427
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at... ORPHA:2255
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease ORPHA:5
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... OMIM:619111
Melioidosis
Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen... ORPHA:31202
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv... OMIM:269200
Triploidy
Abnormality of the gallbladder, Cryptorchidism, Hepatomegaly, Macroglossia, Abnormality of the pa... ORPHA:3376
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Recurrent otitis med... OMIM:618268
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Small hypothenar eminence, Contractures of the large joint... ORPHA:96092
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cholestasis, Hypocalcemia, Rhabdomyolysis, Skeletal myopathy, Chronic... ORPHA:746
Mccune-Albright Syndrome
Hepatitis, Increased circulating prolactin concentration, Goiter, Cholestasis, Increased circulat... ORPHA:562
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:613658
Pentalogy Of Cantrell
Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia ORPHA:1335
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Death in infancy, Neonatal death OMIM:613730
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Kennedy Disease
Abnormal circulating lipid concentration, Decreased fertility, Type II diabetes mellitus, Testicu... ORPHA:481
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Donohue Syndrome
Hepatic fibrosis, Skeletal muscle atrophy, Cholestasis, Pancreatic islet-cell hyperplasia, Ovaria... OMIM:246200
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227990
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Pneumonia, Hepatitis, Fasciitis, Elevated circulating creatinine concentration, ... ORPHA:36234
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Skeletal muscle atrophy, Micronodular ... OMIM:256810
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis ORPHA:1163
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom... ORPHA:2552
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro... ORPHA:293173
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi... OMIM:613610
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Rheumatoid arthritis, He... ORPHA:227982
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Hypopituitarism... ORPHA:231226
Subaortic Stenosis-Short Stature Syndrome
Acne, Abnormal circulating lipid concentration, Biliary tract abnormality ORPHA:3191
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Camptodactyly... OMIM:613385
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co... ORPHA:355
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Decreased HDL chol... OMIM:616834
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis 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
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma OMIM:615878
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa... OMIM:619991
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Contracture of the proximal interphalangeal joint of the 3rd finger, Recurrent pn... ORPHA:464738
Rift Valley Fever
Uveitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectiou... ORPHA:319251
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Splenomegaly, Infectious encephalitis, Elevated circulating C-r... OMIM:308240
Congenital Tufting Enteropathy
Cholestatic liver disease, Punctate keratitis, Arthritis, Steatorrhea ORPHA:92050
Alagille Syndrome
Cholestasis, Hepatomegaly, Cryptorchidism, Reduced number of intrahepatic bile ducts ORPHA:52
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Increased circulating very long-chain fatty acid concen... OMIM:614866
Shigellosis
Pneumonia, Hepatic failure, Conjunctivitis, Ulcerative colitis, Cholestasis, Rhabdomyolysis, Hypo... ORPHA:810
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Death in infancy, Neonatal death, Elevated circulating creatine kinase ... OMIM:618835
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... OMIM:277900
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hypocalcemia OMIM:300712
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Death in infancy, Neonatal death, Elevated circulating creatine kinase ... OMIM:618839
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Stillbirth, Hepatomega... ORPHA:85212
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis, Abnormal circulating lipid concentration, Polycystic ovaries OMIM:608709
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Contracture of the distal interphal... ORPHA:83617
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... ORPHA:432
Chronic Mucocutaneous Candidiasis
Skin rash, Cheilitis, Hepatitis ORPHA:1334
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis ORPHA:319218
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Atopic dermatitis, Elevated gamma-glutamyltransferase level, Conjunctivitis, Pa... OMIM:620376
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Hepatitis, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Decreased circu... ORPHA:199299
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Death in childhood, Death in infancy, Hypoplasia of... OMIM:243150
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... OMIM:222470
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... OMIM:619534
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Cholestasis, Hepatomegaly, Recurrent otitis media, Bronchiectasis OMIM:620233
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Bohring-Opitz Syndrome
Cholelithiasis, Congenital contracture, Annular pancreas, Facial hypotonia, Bilateral wrist flexi... ORPHA:97297
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Membranous nephropath... OMIM:618999
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death OMIM:617925
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Decreased response to growth hormone stimulation test, Recurrent otitis media, Pyoderm... OMIM:307200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia ORPHA:163979
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Vacterl/Vater Association
Abnormality of the gallbladder, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of t... ORPHA:887
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Eleva... OMIM:619573
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Hypocalcemic tetany, Aplasia of the thymus, Atypical or prolong... ORPHA:83471
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Decreased liver function, Neonatal death OMIM:602199
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Cerebrotendinous Xanthomatosis
Cholelithiasis, Tendon xanthomatosis, Distal amyotrophy, Abnormal circulating enzyme concentratio... ORPHA:909
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Joint contracture of the hand, Cryptorc... OMIM:214110
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism, Multiple joint contractures ORPHA:264450
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia, Hydrocele testis, Neonatal death OMIM:618810
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Elevated amniotic fluid alpha-fetopro... OMIM:249000
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Leptospirosis
Uveitis, Hepatitis, Skin rash, Rhabdomyolysis, Elevated serum transaminases during infections, Op... ORPHA:509
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... OMIM:615846
Mitochondrial Trifunctional Protein Deficiency 2
Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Death in infancy, ... OMIM:620300
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease... OMIM:203800
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Decreased response to growth hormone stimulation test, Skin rash, Arthritis... ORPHA:1855
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p... OMIM:118450
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Death in childhood, Hepatic steatosis, Neonatal death, Death in infancy... OMIM:614922
Trisomy 10P
Camptodactyly, Absent gallbladder, Decreased muscle mass ORPHA:171929
Mody
Exocrine pancreatic insufficiency, Hepatocellular adenoma, Pancreatic hypoplasia ORPHA:552
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Squalene Synthase Deficiency
Bilateral cryptorchidism, Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated ... OMIM:618156
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Cholelithiasis, Elevated circulating hepatic transaminase conce... ORPHA:273
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit... ORPHA:3260
Acute Disseminated Encephalomyelitis
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis ORPHA:83597
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Absent gallbladder, Congenital diaphragmatic hernia, Biliary atresia, Apla... OMIM:600001
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Skin rash, Reduced number of intrahepati... ORPHA:79284
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... ORPHA:728
Primary Sjögren Syndrome
Arteritis, Biliary cirrhosis, Parotitis, Chronic hepatitis, Lymphocytic interstitial pneumonia, M... ORPHA:289390
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... ORPHA:48435
Digeorge Syndrome
Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Recurrent otitis media, Hepatic stea... OMIM:188400
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Abnormal intrahepatic bile duct morphology... ORPHA:485405
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Ab... ORPHA:284
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatomegaly OMIM:266510
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Sple... OMIM:619381
Neurofibroma
Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Peutz-Jeghers Syndrome
Bile duct polyp, Ovarian cyst, Biliary tract abnormality, Precocious puberty with Sertoli cell tu... OMIM:175200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... OMIM:263200
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Hypoplastic nipples ORPHA:480880
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... OMIM:219700
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... ORPHA:73263
Potocki-Lupski Syndrome
Hypocholesterolemia, Hypothyroidism OMIM:610883
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis ORPHA:91139
Alkaptonuria
Black pigment gallstones, Thickened Achilles tendon, Prostatitis, Osteoarthritis, Arthritis, Tend... ORPHA:56
22Q11.2 Deletion Syndrome
Cholelithiasis, Cryptorchidism, Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Seborrheic ... ORPHA:567
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Chronic mucocutaneous can... ORPHA:391487
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Splenomegaly, Gastritis, Glomer... ORPHA:3261
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat... OMIM:137920
Occipital Horn Syndrome
Cholestasis, Jaundice, Esophagitis, Hepatitis ORPHA:198
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Glue ear, Biliary atresia, Myositis, Arthritis, Jaundice, Per... ORPHA:3310
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... ORPHA:96180
Zttk Syndrome
Flexion contracture, Absent gallbladder OMIM:617140
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... OMIM:602782
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hypocholesterolemia, Splenomegaly, Hypoalbuminemia OMIM:608776
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Macroglossia, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hep... OMIM:266920
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Camptodactyly of finger, Abnormal liver lobulation ORPHA:99776
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst OMIM:167800
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ... ORPHA:733
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... OMIM:212065
Shwachman-Diamond Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Hypopituitarism, ... ORPHA:811
Isolated Permanent Neonatal Diabetes Mellitus
Reduced pancreatic beta cells, Pancreatic hypoplasia ORPHA:99885
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Crypto... ORPHA:280
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Williams Syndrome
Cholelithiasis, Abnormal circulating lipid concentration, Death in early adulthood, Cryptorchidis... ORPHA:904
Sarcoidosis
Hepatic failure, Bronchiectasis, Decreased liver function, Parotitis, Enlargement of parotid glan... ORPHA:797
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:319213
Bardet-Biedl Syndrome
Insulin resistance, Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transa... 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, Hypoalbuminemia, Eczematoid dermatitis, Recurrent otitis media, Hypoch... OMIM:270400
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Pancreatitis, Limb hypertonia OMIM:620371
Cat Eye Syndrome
Biliary atresia OMIM:115470
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia,... ORPHA:79324
Peters-Plus Syndrome
Bilobate gallbladder, Diastasis recti, Cryptorchidism, Biliary tract abnormality OMIM:261540
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Degcags Syndrome
Pneumonia, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Cryptorchidism, Abnormal spleen m... OMIM:619488
Alopecia Universalis
Type I diabetes mellitus, Abnormality of the thyroid gland, Abnormal circulating lipid concentration ORPHA:701
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Atopic dermatitis, Arthrogryposis multiplex congenita, Elbow flexion contr... OMIM:619503
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99226
Apolipoprotein A-I Deficiency
Xanthelasma, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration ORPHA:425
Alström Syndrome
Testicular fibrosis, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steato... ORPHA:64
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Clitoral hypertrophy, Hypoplastic labia majora OMIM:244450
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovary, Micropenis, Azotemia OMIM:619321
Alg9-Cdg
Periportal fibrosis, Hepatic cysts, Hypoplastic nipples, Hypoplasia of the ovary, Hepatomegaly, B... ORPHA:79328
Dubowitz Syndrome
Hypocholesterolemia, Hypospadias, Cryptorchidism OMIM:223370
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia OMIM:306955
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Incre... ORPHA:79318
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Schinzel-Giedion Syndrome
Central hypothyroidism, Annular pancreas, Streak ovary, Hepatoblastoma, Micropenis, Hypospadias ORPHA:798
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Cryptorchidism OMIM:130650
Yellow Fever
Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Elevated c... 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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