Details of Disease

General Information of Disease (ID: DISLVWWZ)

Disease Name Autism, susceptibility to, X-linked 2
Synonyms
susceptibility to X-linked autism 2; mental retardation, X-linked; intellectual disability, X-linked; intellectual developmental disorder, X-linked, Isolated cases, X-linked; autism, susceptibility to, X-linked 2; AUTSX2; autism susceptibility, X-linked 2, isolated cases, X-linked; autism, susceptibility to, X-linked type 2
Definition
A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISRAMZ3: Autism, susceptiblity to
DISLVWWZ: Autism, susceptibility to, X-linked 2
Disease Identifiers
MONDO ID
MONDO_0010341
UMLS CUI
C1845539
OMIM ID
300495
MedGen ID
336964

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
NLGN4X OTDJGBK8 Strong X-linked [1]
------------------------------------------------------------------------------------

References

1 Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet. 2003 May;34(1):27-9. doi: 10.1038/ng1136.