Details of Disease

General Information of Disease (ID: DISH9BXR)

• Disease Name: Intellectual disability, autosomal dominant 24
• Synonyms: autosomal dominant non-syndromic intellectual disability 24; mental retardation, autosomal dominant 24; autosomal dominant mental retardation 24; Vulto-van Silfout-de Vries syndrome; mental retardation, autosomal dominant type 24; MRD24; intellectual disability, autosomal dominant type 24; autosomal dominant intellectual disability 24; intellectual disability, autosomal dominant 24; DEAF1 autosomal dominant non-syndromic intellectual disability; autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISH9BXR: Intellectual disability, autosomal dominant 24
• Disease Identifiers:
  MONDO ID: MONDO_0014357
  UMLS CUI: C4014414
  OMIM ID: 615828
  MedGen ID: 862851

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DEAF1	OTCLX3ZW	Definitive	Autosomal dominant	[1]

References

• [1] Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014 May 1;94(5):649-61. doi: 10.1016/j.ajhg.2014.03.013. Epub 2014 Apr 10.