Details of Disease

General Information of Disease (ID: DISYM7SK)

Disease Name Adams-Oliver syndrome 2
Synonyms AOS2; Adams-Oliver syndrome type 2; Adams-Oliver syndrome 2; DOCK6 Adams-Oliver syndrome; Adams-Oliver syndrome caused by mutation in DOCK6
Definition Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.
Disease Hierarchy
DIS5M94B: Non-syndromic limb reduction defect
DISQO525: Adams-Oliver syndrome
DISYM7SK: Adams-Oliver syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013635
UMLS CUI
C3280182
OMIM ID
614219
MedGen ID
481812

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
DOCK6 OTPNUVLT Strong Autosomal recessive [1]
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References

1 Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4.