Details of Disease

General Information of Disease (ID: DISOEQO6)

Disease Name Intellectual disability, X-linked 30
Synonyms
mental retardation, X-linked 47; MRX30; intellectual disability, X-linked 47; mental retardation, X-linked 30; non-syndromic X-linked intellectual disability caused by mutation in PAK3; intellectual disability, X-linked type 30; PAK3 non-syndromic X-linked intellectual disability; mental retardation, X-linked type 30; intellectual disability, X-linked 30; intellectual developmental disorder, X-linked 30, X-linked recessive
Definition Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DISOEQO6: Intellectual disability, X-linked 30
Disease Identifiers
MONDO ID
MONDO_0010361
MESH ID
C563146
UMLS CUI
C0796237
OMIM ID
300558
MedGen ID
163235

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
DLG3 OTH591WK Strong Biomarker [1]
GDI1 OTYM3928 Strong Biomarker [2]
PAK3 OT80M3BV Definitive X-linked [3]
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References

1 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.
2 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.
3 Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. Am J Med Genet. 1997 Oct 31;72(3):324-8. doi: 10.1002/(sici)1096-8628(19971031)72:3<324::aid-ajmg14>3.0.co;2-v.