Details of Disease

General Information of Disease (ID: DISNUZCL)

Disease Name Alagille syndrome due to a JAG1 point mutation
Synonyms
Alagille-Watson syndrome; hepatic ductular hypoplasia, syndromatic; arteriohepatic dysplasia; Alagille syndrome 1; cholestasis with peripheral pulmonary stenosis; ALGS1; Alagille syndrome due to a JAG1 point mutation; arteriohepatic dysplasia due to a JAG1 point mutation; syndromic bile duct paucity due to a JAG1 point mutation; Alagille syndrome type 1; Alagille-Watson syndrome due to a JAG1 point mutation
Disease Hierarchy
DIS9DPU8: Alagille syndrome
DISNUZCL: Alagille syndrome due to a JAG1 point mutation
Disease Identifiers
MONDO ID
MONDO_0016862
MESH ID
D016738
UMLS CUI
C1956125
OMIM ID
118450
MedGen ID
365434
Orphanet ID
261619

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
JAG1 OT3LGT6K Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome. Clin Genet. 2022 Sep;102(3):248-250. doi: 10.1111/cge.14179. Epub 2022 Jun 27.