Alagille Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Liver diseases, Nephrological diseases, Fetal diseases, Gastrointestinal diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Alagille Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Australia),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Cardiovascular diseases, Liver diseases, Nephrological diseases, Gastrointestinal diseases
ICD10: 29 28
Rare eye diseases
Rare cardiac malformations
Rare hepatic diseases
Rare renal diseases
Developmental anomalies during embryogenesis
OMIM:50 Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic... (118450) more...
MalaCards based summary: Alagille Syndrome, also known as arteriohepatic dysplasia, is related to alagille syndrome 2 and jag1-related alagille syndrome, and has symptoms including biliary tract abnormality, corneal dystrophy and ventricular septal defect. An important gene associated with Alagille Syndrome is JAG1 (Jagged 1), and among its related pathways are Dorso-ventral axis formation and NOTCH2 Activation and Transmission of Signal to the Nucleus. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are endocrine/exocrine gland and cardiovascular system.
Disease Ontology:11 A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
NIH Rare Diseases:46 Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. it is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life. symptoms and symptom severity varies, even among people in the same family. alagille syndrome is caused by mutations in the jag1 and notch2 genes. it is inherited in an autosomal dominant pattern. treatment is symptomatic and supportive. in severe cases, liver transplant may be necessary. last updated: 11/1/2012
UniProtKB/Swiss-Prot:68 Alagille syndrome 1: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
Genetics Home Reference:24 Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
Wikipedia:69 Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the... more...
GeneReviews summary for NBK1273
Symptoms by clinical synopsis from OMIM:118450
Clinical features from OMIM:118450
Symptoms:52 (show all 43)
HPO human phenotypes related to Alagille Syndrome:(show all 84)
Drugs for Alagille Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Alagille Syndrome
MalaCards organs/tissues related to Alagille Syndrome:34
Liver, Heart, Kidney, Eye, Skin, Thyroid, Bone
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Alagille Syndrome:
MGI Mouse Phenotypes related to Alagille Syndrome:39
Articles related to Alagille Syndrome:(show top 50) (show all 361)
UniProtKB/Swiss-Prot genetic disease variations for Alagille Syndrome:68 (show all 51)
Clinvar genetic disease variations for Alagille Syndrome:5 (show all 17)
Copy number variations for Alagille Syndrome from CNVD:6
Search GEO for disease gene expression data for Alagille Syndrome.
Pathways related to Alagille Syndrome according to GeneCards Suite gene sharing:(show all 13)
Cellular components related to Alagille Syndrome according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Alagille Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 55)
Molecular functions related to Alagille Syndrome according to GeneCards Suite gene sharing:(show all 8)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet