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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
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... ORPHA:69663
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration OMIM:300752
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... OMIM:266200
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... OMIM:613470
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis OMIM:235700
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Hyperbiliverdinemia
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis OMIM:614156
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... ORPHA:100086
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... OMIM:603358
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating cre... OMIM:611881
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:605479
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Autosomal Erythropoietic Protoporphyria
Eczema, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhosis, Cholel... ORPHA:79278
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... ORPHA:521219
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczema, Hypertriglyceridemia OMIM:177000
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... ORPHA:570422
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... OMIM:616828
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:232800
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Abnormality of the pancreas, Jaundice, Abnormal pineal ... ORPHA:69665
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Death in infancy, Splenomegaly, Jaundice, Death in adolescence, Myopathy... OMIM:615512
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... ORPHA:1333
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97261
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97283
Metachromatic Leukodystrophy
Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis OMIM:250100
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Stomatitis ORPHA:438274
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Hand mus... ORPHA:98908
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Gracile Syndrome
Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Cirrhosis, E... ORPHA:53693
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... OMIM:300635
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Pancreatic Colipase Deficiency
Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309108
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... ORPHA:30391
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Hepatitis, Ch... OMIM:194380
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Spherocytosis, Type 1
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia OMIM:182900
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis ORPHA:1296
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Rett Syndrome
Increased serum pyruvate, Skeletal muscle atrophy, Cholecystitis, Hyperammonemia ORPHA:778
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Hype... ORPHA:171876
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97282
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Elevated circulating growth hor... ORPHA:97280
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Biliary at... ORPHA:565899
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis OMIM:105200
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis OMIM:609060
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:913
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:276152
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure ORPHA:774
Acth Deficiency, Isolated
Cholestasis, Jaundice, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency OMIM:201400
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con... ORPHA:232
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:614300
Nephronophthisis 18
Tubulointerstitial nephritis, Portal fibrosis, Cholestasis OMIM:615862
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Conjugated h... OMIM:613404
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy OMIM:160900
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Portal inflammation, Elevated circulating alanine aminotransferase concentrat... OMIM:613759
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatic melanin-like lysos... OMIM:208085
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Hepatic failure, Extrahepatic cholestasis ORPHA:100078
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... OMIM:615710
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Rec... ORPHA:101330
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morphol... ORPHA:436252
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Gout, Hyperproteinemia, Increased circulating renin level, Ch... ORPHA:90041
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Death in early adulthood, Hepatomegaly OMIM:619273
Listeriosis
Pericarditis, Liver abscess, Miscarriage, Pneumonia, Osteomyelitis, Pustule, Myocarditis, Jaundic... ORPHA:533
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
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Hereditary Spherocytosis
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Hyperbilirubinemia, Cholelit... ORPHA:822
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Neonatal hyperbilirubinemia, Portal ve... ORPHA:3202
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis OMIM:301066
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil... OMIM:614886
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoalbuminemia, Bile duct proliferation, Macrovesicular hepatic s... OMIM:618329
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Elevated circulating creatine kinase concentration OMIM:618775
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal... ORPHA:288
Mednik Syndrome
Death in infancy, Cholestasis, Death in childhood, Hepatic fibrosis, Cirrhosis, Increased circula... OMIM:609313
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... ORPHA:186
Cadds
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, Ch... ORPHA:369942
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Cryptorchidism, Elevated circulating creatinine concentration, Ch... OMIM:608104
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepatosplenomegaly... OMIM:619858
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j... ORPHA:199296
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension ORPHA:83620
Isolated Sedoheptulokinase Deficiency
Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Generalized amyotrophy, Hypoalbuminemia, Neopla... ORPHA:171
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Neonatal death, Hyperalaninemia, Hepatic steatosis, Limb hypertonia OMIM:615918
Familial Atrial Myxoma
Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Xanthelasma, Abnormal circulating cholesterol concentration, Cholelithiasis... OMIM:213700
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Sickle Cell Disease
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Decreased liver function OMIM:614870
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni... OMIM:240300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Death in infancy, Conjugated hyperbilirubinemia,... OMIM:617156
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyp... OMIM:208500
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... ORPHA:90003
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... OMIM:614972
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... OMIM:215600
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure,... ORPHA:292
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis OMIM:238970
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Abnor... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Elevated circulating creatine kina... OMIM:614576
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Avian Influenza
Elevated hepatic transaminase, Miscarriage, Elevated circulating creatine kinase concentration, E... ORPHA:454836
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Abnormal circulating lipid concentration ORPHA:381
Argininemia
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia OMIM:207800
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology, Hemobilia... ORPHA:512
Distal Duplication 5Q
Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:614887
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciiti... ORPHA:39812
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Orchitis, S... ORPHA:99827
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... OMIM:308230
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... ORPHA:731
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Splenomegaly, Cholestasis, Bi... OMIM:261515
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ch... ORPHA:398124
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Flexion contracture, Lower limb h... OMIM:300534
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Porphyria, Congenital Erythropoietic
Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Elevated circulating uroporphyrin concentra... OMIM:263700
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, Decreased circul... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... ORPHA:540
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Erythema nodosum, Splenomegaly, Jaundice... OMIM:613471
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Pancreatic aplasia, Elevated circulating alanine aminotransferase concentrati... OMIM:618500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... OMIM:615895
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... OMIM:235555
Medullary Thyroid Carcinoma
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Abnormal liver parenchyma morphology ORPHA:1332
Lichen Planopilaris
Hepatitis ORPHA:525
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... OMIM:619377
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... ORPHA:77293
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Alagille Syndrome 2
Cholestatic liver disease, Cholestasis OMIM:610205
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Aa Amyloidosis
Hepatomegaly, Cholestasis ORPHA:85445
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder ORPHA:349
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infecti... ORPHA:549
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphra... ORPHA:2075
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Secondary Short Bowel Syndrome
Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Cholestasis, Steatorrhea ORPHA:95427
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia... ORPHA:2255
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease ORPHA:5
Triploidy
Hepatomegaly, Abnormality of the pancreas, Cryptorchidism, Abnormality of the gallbladder, Macrog... ORPHA:3376
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Rhabdomyolysis, Cholestasis, Skeletal myopathy, Hypocalcemia, Left ventricula... ORPHA:746
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Small hypothenar eminence, Aplasia/Hypoplasia of the gallbladder, Contractures of... ORPHA:96092
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Steatorrhea, Macroglossia, Elevated circulating alkaline phosphatase ... OMIM:618268
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Primary hyper... ORPHA:562
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Pentalogy Of Cantrell
Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia ORPHA:1335
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Bacterial Toxic-Shock Syndrome
Myositis, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, Pneumonia, Os... ORPHA:36234
Donohue Syndrome
Skeletal muscle atrophy, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyper... OMIM:246200
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Death in infancy, Cryptorchidism OMIM:613730
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Acne ORPHA:3191
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate amin... OMIM:256810
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Anterior pituitary dysgenesis, C... ORPHA:227990
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, ... ORPHA:293173
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Hepatosplenomegaly... OMIM:607330
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypoplasia of the musculature, Hypersplenism, Splenomegaly, Jaundice, Chronic... ORPHA:231226
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Anterior pituitary d... ORPHA:227982
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Recurrent pneumonia, Bili... OMIM:613610
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Infectious encephalitis ORPHA:1163
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... OMIM:308240
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Torticollis, Unilateral facial palsy OMIM:619480
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptodactyly, Hashimo... OMIM:613385
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... ORPHA:415
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancre... OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, R... OMIM:124000
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Delayed puberty, Decreased LDL cholesterol concentration... OMIM:616834
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased circulating cortisol level, Elevated circulating creatine kinase conc... OMIM:618835
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:610539
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Recurrent pneumonia, Contracture of the proximal interphalangeal joint of the 3rd... ORPHA:464738
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased circulating cortisol level, Elevated circulating creatine kinase conc... OMIM:618839
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Rift Valley Fever
Elevated hepatic transaminase, Miscarriage, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious e... ORPHA:319251
Craniofacioskeletal Syndrome
Absent gallbladder, Hypocalcemia, Cryptorchidism OMIM:300712
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Alagille Syndrome
Hepatomegaly, Reduced number of intrahepatic bile ducts, Cholestasis, Cryptorchidism ORPHA:52
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Elevated circulating aspartate a... OMIM:614866
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries OMIM:608709
Shigellosis
Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Abnormal blood ion concentrati... ORPHA:810
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Fetal Gaucher Disease
Hepatomegaly, Death in infancy, Splenomegaly, Abnormality of the spleen, Flexion contracture, Sti... ORPHA:85212
Congenital Tufting Enteropathy
Arthritis, Cholestatic liver disease, Punctate keratitis, Steatorrhea ORPHA:92050
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Insulin re... OMIM:615980
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... ORPHA:199299
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... ORPHA:83617
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Myasthenia Gravis
Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis ORPHA:589
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Psoriasiform dermatitis, Enterocolitis, Hypoplasia of the thymus, Interface hep... OMIM:243150
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, ... OMIM:619534
Bohring-Opitz Syndrome
Facial hypotonia, Bilateral wrist flexion contracture, Congenital contracture, Lower limb hyperto... ORPHA:97297
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C... OMIM:618999
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Increased serum i... OMIM:222470
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Absent gallbladder OMIM:617925
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypocalcemia, Hyperbilirubinemia, Cryptorchidism ORPHA:163979
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... OMIM:619418
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Vacterl/Vater Association
Cryptorchidism, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Abnormality of t... ORPHA:887
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chroni... ORPHA:83471
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis, Decreased liver function OMIM:602199
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Recurrent otitis media, Hepatomegaly, Bronchiectasis, Cholestasis OMIM:620233
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... OMIM:619573
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Increased circulating NT-proBNP concentration, Elevated circulating aspartate a... OMIM:620300
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Death in childhood, Hypo... OMIM:214110
Trisomy 8P
Cryptorchidism, Annular pancreas, Multiple joint contractures, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Meckel Syndrome, Type 1
Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate, Asplenia, Cr... OMIM:249000
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Tendon xanthomatosis, Distal amyotrophy, P... ORPHA:909
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Bilateral cryptorchidism, Decreased LD... OMIM:618156
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Neonatal death, Hypocholesterolemia OMIM:618810
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Rhabdomyolysis, Hepatitis, Uveitis, Hyperprotein... ORPHA:509
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Bacterial endocard... ORPHA:2072
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hepatitis, Arthritis... ORPHA:1855
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Increased circu... OMIM:615846
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Trisomy 10P
Absent gallbladder, Decreased muscle mass, Camptodactyly ORPHA:171929
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Myopathy, Stillbirth, Decreased liver function, Death in childhoo... OMIM:614922
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Elevated circulating palmitoleylcarnitine concentration, Hyperhomoc... ORPHA:79284
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypercholesterolemia, Decreased response ... ORPHA:273
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Congenital diaphragmatic hernia, Biliary atresia, Aplasia of the left hemidia... OMIM:600001
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Skeletal muscle atrophy, Inflammatory abnormality of the skin, Cho... ORPHA:3260
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... ORPHA:3464
Mody
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency ORPHA:552
Gaucher Disease
Hepatomegaly, Death in infancy, Osteomyelitis, Elevated circulating C-reactive protein concentrat... ORPHA:355
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Elevated circulating glutaric acid concentration, Hepatic... OMIM:231680
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Digeorge Syndrome
Parathyroid agenesis, Acne, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Parathyroid... OMIM:188400
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Abnormal intrahe... ORPHA:485405
Gaucher Disease Type 1
Hepatomegaly, Hypersplenism, Splenomegaly, Osteoarthritis, Cirrhosis, Biliary tract obstruction ORPHA:77259
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Elevated circulating C-reactive protein concentration, Recur... OMIM:619381
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... ORPHA:2298
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Ovarian cyst, Precocious pu... OMIM:175200
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o... ORPHA:733
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Hypoplastic nipples ORPHA:480880
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Acne, Seborrheic dermatitis, Cryptorchidism, Splenomegaly, Arthritis, Hypopla... ORPHA:567
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy... ORPHA:3261
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Bronchiectasis, Hepatitis, Hepatosplenomegaly, Ente... ORPHA:391487
Neurofibroma
Enlargement of parotid gland, Recurrent otitis media, Abnormal biliary tract morphology ORPHA:252183
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Hepatitis, Ente... ORPHA:73263
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Left ventricular noncompaction, Neonatal death, Aspiration pneumonia, Left ventricu... OMIM:619167
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia OMIM:610883
Occipital Horn Syndrome
Esophagitis, Jaundice, Hepatitis, Cholestasis ORPHA:198
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis ORPHA:110
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:225
Zttk Syndrome
Absent gallbladder, Flexion contracture OMIM:617140
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Tetrasomy 9P
Absent gallbladder, Myositis, Pericarditis, Cryptorchidism, Jaundice, Biliary atresia, Arthritis ORPHA:3310
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... OMIM:219700
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... OMIM:602782
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Abnormal liver lobulation, Camptodactyly of finger ORPHA:99776
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancrea... OMIM:137920
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased response to growth hormone stimulation tes... ORPHA:811
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, ... OMIM:212065
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the gallbladder, Abdominal situs ... ORPHA:280
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells ORPHA:99885
Familial Cervical Artery Dissection
Diabetes mellitus, Abnormal circulating lipid concentration ORPHA:36382
Sarcoidosis
Hepatomegaly, Maculopapular exanthema, Facial palsy, Portal hypertension, Hypercalcemia, Erythema... ORPHA:797
Williams Syndrome
Death in early adulthood, Hypercalcemia, Elevated circulating creatine kinase concentration, Cryp... ORPHA:904
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... ORPHA:14
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol concent... ORPHA:818
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Death in infancy, Eczema, Splenomegaly, Cryptorchidism, Cholestatic liver disease, ... OMIM:270400
Peters-Plus Syndrome
Cryptorchidism, Diastasis recti, Biliary tract abnormality, Bilobate gallbladder OMIM:261540
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Cat Eye Syndrome
Biliary atresia OMIM:115470
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Hyposp... ORPHA:79324
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Degcags Syndrome
Hepatomegaly, Pneumonia, Cryptorchidism, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphol... OMIM:619488
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipoproteinemia ORPHA:1979
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Decreased response to growth hormone stimulation test, Portal hypertension, Cryp... OMIM:619503
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Hashimoto thyroiditis, Increased circulating gonadotropin level, B... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Hashimoto thyroiditis, Increased circulating gonadotropin level, B... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Hashimoto thyroiditis, Increased circulating gonadotropin level, B... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Hashimoto thyroiditis, Increased circulating gonadotropin level, B... ORPHA:99226
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma ORPHA:425
Overlap Myositis
Elevated hepatic transaminase, Diabetes mellitus, Abnormal circulating lipid concentration, Eleva... ORPHA:206572
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Kaufman Oculocerebrofacial Syndrome
Hypoplastic labia majora, Clitoral hypertrophy, Hypocholesterolemia OMIM:244450
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... ORPHA:90363
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Delayed puberty, Aplasia ... OMIM:151100
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipple... ORPHA:79328
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Azotemia, Micropenis, Hepatic steatosis, Decreased testicular size OMIM:619321
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Dubowitz Syndrome
Cryptorchidism, Hypospadias, Hypocholesterolemia OMIM:223370
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Elevated circulating gr... ORPHA:79318
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Insulin resistance, Micropenis, Abnormal circulating lipid con... OMIM:616541
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia OMIM:306955
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... ORPHA:449432
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Annular pancreas, Central hypothyroidism, Hepatoblastoma, Micropenis ORPHA:798
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Cryptorchidism OMIM:130650
Yellow Fever
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Pancreatic hyp... 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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