Details of Disease

General Information of Disease (ID: DISEBC1L)

• Disease Name: Intellectual disability, X-linked 63
• Synonyms: ACSL4-related intellectual disability; MRX63; mental retardation, X-linked 63; mental retardation, X-linked 68; intellectual disability, X-linked 68; intellectual disability, X-linked type 63; mental retardation, X-linked type 63; intellectual developmental disorder, X-linked 63, X-linked dominant; non-syndromic X-linked intellectual disability caused by mutation in ACSL4; ACSL4 non-syndromic X-linked intellectual disability; intellectual disability, X-linked 63
• Definition: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.
• Disease Hierarchy:
  DIS71AI3: Non-syndromic X-linked intellectual disability
  DISEBC1L: Intellectual disability, X-linked 63
• Disease Identifiers:
  MONDO ID: MONDO_0010313
  MESH ID: C564522
  UMLS CUI: C1845672
  OMIM ID: 300387
  MedGen ID: 337002

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
ACSL4	OTI71MUJ	Strong	X-linked	[1]
DLG3	OTH591WK	Strong	Biomarker	[2]
GDI1	OTYM3928	Strong	Biomarker	[3]

References

• [1] Abnormal uterus with polycysts, accumulation of uterine prostaglandins, and reduced fertility in mice heterozygous for acyl-CoA synthetase 4 deficiency. Biochem Biophys Res Commun. 2001 Jun 22;284(4):993-7. doi: 10.1006/bbrc.2001.5065.
• [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.