Details of Disease | DrugMAP

General Information of Disease (ID: DIS1TLM2)

Disease Name	Intellectual disability, X-linked 45
Synonyms	MRX45; non-syndromic X-linked intellectual disability caused by mutation in ZNF81; mental retardation, X-linked 45; ZNF81 non-syndromic X-linked intellectual disability; intellectual disability, X-linked 45; intellectual disability, X-linked type 45; mental retardation, X-linked type 45
Definition	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DIS1TLM2: Intellectual disability, X-linked 45
Disease Identifiers	MONDO ID MONDO_0010344 MESH ID C564503 UMLS CUI C1845333 OMIM ID 300498 MedGen ID 375633

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
ZNF81	OT55BMLW	Limited	Unknown	[1]
DLG3	OTH591WK	Strong	Biomarker	[2]
GDI1	OTYM3928	Strong	Biomarker	[3]
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References

1	Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet. 2004 May;41(5):394-9. doi: 10.1136/jmg.2003.016972.
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.