Details of Disease

General Information of Disease (ID: DISO2WQ2)

Disease Name Intellectual disability, X-linked 46
Synonyms
mental retardation, X-linked 46; MRX46; mental retardation, X-linked 46, X-linked recessive; ARHGEF6 non-syndromic X-linked intellectual disability; mental retardation, X-linked type 46; intellectual disability, X-linked 46; non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6; intellectual disability, X-linked type 46
Definition Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DISO2WQ2: Intellectual disability, X-linked 46
Disease Identifiers
MONDO ID
MONDO_0010326
MESH ID
C564513
UMLS CUI
C1845526
OMIM ID
300436
MedGen ID
337255

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARHGEF6 OTN1ABGL Limited X-linked recessive [1]
DLG3 OTH591WK Strong Biomarker [2]
GDI1 OTYM3928 Strong Biomarker [3]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2 Altered thalamocortical development in the SAP102 knockout model of intellectual disability.Hum Mol Genet. 2016 Sep 15;25(18):4052-4061. doi: 10.1093/hmg/ddw244. Epub 2016 Jul 27.
3 Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1.