Details of Disease

General Information of Disease (ID: DISGK6ZR)

Disease Name Adams-Oliver syndrome 6
Synonyms AOS6; DLL4 Adams-Oliver syndrome; Adams-Oliver syndrome type 6; Adams-Oliver syndrome caused by mutation in DLL4; Adams-Oliver syndrome 6
Definition Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.
Disease Hierarchy
DIS5M94B: Non-syndromic limb reduction defect
DISQO525: Adams-Oliver syndrome
DISGK6ZR: Adams-Oliver syndrome 6
Disease Identifiers
MONDO ID
MONDO_0014703
UMLS CUI
C4225271
OMIM ID
616589
MedGen ID
908556

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
DLL4 TTV23LH Strong Genetic Variation [1]
DLL4 TTV23LH 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
DLL4 OTRA4K2V 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 Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20.