Details of Disease

General Information of Disease (ID: DISX6CQ7)

• Disease Name: Intellectual disability, X-linked 100
• Synonyms: MRX100; mental retardation, X-linked 100; intellectual developmental disorder, X-linked 100, X-linked recessive; KIF4A non-syndromic X-linked intellectual disability; non-syndromic X-linked intellectual disability caused by mutation in KIF4A; mental retardation, X-linked type 100; intellectual disability, X-linked 100; intellectual disability, X-linked type 100
• Definition: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.
• Disease Hierarchy:
  DIS71AI3: Non-syndromic X-linked intellectual disability
  DISX6CQ7: Intellectual disability, X-linked 100
• Disease Identifiers:
  MONDO ID: MONDO_0010488
  UMLS CUI: C3890167
  OMIM ID: 300923
  MedGen ID: 855516

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
KIF4A	OT3UWL7D	Moderate	X-linked	[1]
DLG3	OTH591WK	Strong	Biomarker	[2]
GDI1	OTYM3928	Strong	Biomarker	[3]

References

• [1] A novel microtubule-based motor protein (KIF4) for organelle transports, whose expression is regulated developmentally. J Cell Biol. 1994 Oct;127(1):187-201. doi: 10.1083/jcb.127.1.187.
• [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.