Details of Disease | DrugMAP

General Information of Disease (ID: DISQC206)

Disease Name	Intellectual disability, X-linked 72
Synonyms	MRX72; mental retardation, X-linked 72; intellectual disability, X-linked 72; intellectual disability, X-linked type 72; mental retardation, X-linked type 72; intellectual developmental disorder, X-linked 72, X-linked recessive
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DISQC206: Intellectual disability, X-linked 72
Disease Identifiers	MONDO ID MONDO_0010289 MESH ID C564547 UMLS CUI C1846038 OMIM ID 300271 MedGen ID 375793

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]
RAB39B	OTDCLLT0	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	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011.