Details of Disease

General Information of Disease (ID: DISDRQHE)

Disease Name Adams-Oliver syndrome 5
Synonyms
AOS5; Adams-Oliver syndrome 5; NOTCH1 Adams-Oliver syndrome; Adams-Oliver syndrome caused by mutation in Notch1; Adams-Oliver syndrome type 5; Adams-Oliver syndrome caused by mutation in NOTCH1; Notch1 Adams-Oliver syndrome
Definition Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.
Disease Hierarchy
DIS5M94B: Non-syndromic limb reduction defect
DISQO525: Adams-Oliver syndrome
DISDRQHE: Adams-Oliver syndrome 5
Disease Identifiers
MONDO ID
MONDO_0014459
UMLS CUI
C4014970
OMIM ID
616028
MedGen ID
863407

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
NOTCH1 TTB1STW Strong CausalMutation [1]
NOTCH1 TTB1STW Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NOTCH1 OTI1WADQ Definitive Autosomal dominant [2]
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References

1 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.