Details of Disease

General Information of Disease (ID: DISZGPUX)

Disease Name Alagille syndrome due to a NOTCH2 point mutation
Synonyms
ALGS2; Alagille syndrome 2; Alagille syndrome due to a NOTCH2 point mutation; Alagille-Watson syndrome due to a NOTCH2 point mutation; Arteriohepatic dysplasia due to a NOTCH2 point mutation; Alagille syndrome type 2; syndromic bile duct paucity due to a NOTCH2 point mutation
Disease Hierarchy
DIS9DPU8: Alagille syndrome
DISZGPUX: Alagille syndrome due to a NOTCH2 point mutation
Disease Identifiers
MONDO ID
MONDO_0012439
MESH ID
D016738
UMLS CUI
C1857761
OMIM ID
610205
MedGen ID
341844
Orphanet ID
261629

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NOTCH2 TT82FVD Limited GermlineCausalMutation [1]
NOTCH2 TT82FVD Strong Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NOTCH2 OTQ3Y9PA Strong Autosomal dominant [2]
JAG1 OT3LGT6K Definitive Biomarker [3]
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References

1 Alagille syndrome: pathogenesis, diagnosis and management.Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.Nat Genet. 2011 Jun;43(6):607-11. doi: 10.1038/ng.825. Epub 2011 May 1.