Details of Disease

General Information of Disease (ID: DIS0AM6V)

Disease Name Adams-Oliver syndrome 3
Synonyms AOS3; Adams-Oliver syndrome type 3; RBPJ Adams-Oliver syndrome; Adams-Oliver syndrome 3; Adams-Oliver syndrome caused by mutation in RBPJ
Definition Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.
Disease Hierarchy
DIS5M94B: Non-syndromic limb reduction defect
DISQO525: Adams-Oliver syndrome
DIS0AM6V: Adams-Oliver syndrome 3
Disease Identifiers
MONDO ID
MONDO_0013895
UMLS CUI
C3553748
OMIM ID
614814
MedGen ID
766662

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
RBPJ TT72D4Z Strong Autosomal dominant [1]
RBPJ TT72D4Z Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RBPJ OTD7CUG0 Strong Autosomal dominant [1]
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References

1 RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005.
2 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.