Details of Disease | DrugMAP

General Information of Disease (ID: DISLGNWQ)

Disease Name	Intellectual disability, X-linked 90
Synonyms	MRX90; mental retardation, X-linked 90; intellectual disability, X-linked 90; non-syndromic X-linked intellectual disability caused by mutation in DLG3; mental retardation, X-linked type 90; DLG3 non-syndromic X-linked intellectual disability; intellectual disability, X-linked type 90; intellectual developmental disorder, X-linked 90, X-linked recessive
Definition	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DISLGNWQ: Intellectual disability, X-linked 90
Disease Identifiers	MONDO ID MONDO_0010452 UMLS CUI C3275443 OMIM ID 300850 MedGen ID 477074

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDI1	OTYM3928	Strong	Biomarker	[1]
DLG3	OTH591WK	Definitive	X-linked recessive	[2]
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References

1	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.
2	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.