Details of Disease

General Information of Disease (ID: DISP424V)

• Disease Name: X-linked intellectual disability, Cantagrel type
• Synonyms: intellectual disability, X-linked 98; MRX98; mental retardation, X-linked 98; intellectual disability, X-linked type 98; intellectual developmental disorder, X-linked 98, X-linked dominant; mental retardation, X-linked type 98
• Definition: X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISP424V: X-linked intellectual disability, Cantagrel type
• Disease Identifiers:
  MONDO ID: MONDO_0010483
  UMLS CUI: C3806730
  OMIM ID: 300912
  MedGen ID: 813060
  Orphanet ID: 85277

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]
NEXMIF	OT576F40	Strong	X-linked	[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] NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4.