Details of Disease

General Information of Disease (ID: DISW92UF)

• Disease Name: Intellectual disability, X-linked 99
• Synonyms: mental retardation, X-linked 99; MRX99; intellectual disability, X-linked 99; non-syndromic X-linked intellectual disability caused by mutation in USP9X; intellectual disability, X-linked type 99; intellectual developmental disorder, X-linked 99, X-linked recessive; USP9X non-syndromic X-linked intellectual disability; mental retardation, X-linked type 99
• Definition: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.
• Disease Hierarchy:
  DIS71AI3: Non-syndromic X-linked intellectual disability
  DISW92UF: Intellectual disability, X-linked 99
• Disease Identifiers:
  MONDO ID: MONDO_0010487
  UMLS CUI: C3806746
  OMIM ID: 300919
  MedGen ID: 813076

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
USP9X	OT9ASQSE	Definitive	X-linked	[1]
DLG3	OTH591WK	Strong	Biomarker	[2]
GDI1	OTYM3928	Strong	Biomarker	[3]

References

• [1] Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. Am J Hum Genet. 2014 Mar 6;94(3):470-8. doi: 10.1016/j.ajhg.2014.02.004.
• [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.