Details of Disease

General Information of Disease (ID: DIS5EFCO)

• Disease Name: Intellectual disability, X-linked 93
• Synonyms: mental retardation, X-linked, with macrocephaly; intellectual disability, X-linked, with macrocephaly; mental retardation, X-linked 93; MRX93; intellectual disability, X-linked type 93; non-syndromic X-linked intellectual disability caused by mutation in BRWD3; mental retardation, X-linked type 93; BRWD3 non-syndromic X-linked intellectual disability; intellectual developmental disorder, X-linked 93, X-linked recessive; intellectual disability, X-linked 93
• Definition: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.
• Disease Hierarchy:
  DIS71AI3: Non-syndromic X-linked intellectual disability
  DIS5EFCO: Intellectual disability, X-linked 93
• Disease Identifiers:
  MONDO ID: MONDO_0010393
  MESH ID: C567066
  UMLS CUI: C1970841
  OMIM ID: 300659
  MedGen ID: 410164

Molecular Interaction Atlas (MIA) of This Disease

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]
BRWD3	OT3BM9B0	Definitive	X-linked recessive	[3]

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 BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet. 2007 Aug;81(2):367-74. doi: 10.1086/520677. Epub 2007 Jun 26.