Details of Disease

General Information of Disease (ID: DISNHOJN)

• Disease Name: Intellectual disability, autosomal dominant 4
• Synonyms: mental retardation, autosomal dominant 4; autosomal dominant non-syndromic intellectual disability 4; MRD4; KIRREL3 autosomal dominant non-syndromic intellectual disability; autosomal dominant intellectual disability 4; mental retardation, autosomal dominant type 4; intellectual disability, autosomal dominant type 4; intellectual disability, autosomal dominant 4; autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3; autosomal dominant mental retardation 4
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISNHOJN: Intellectual disability, autosomal dominant 4
• Disease Identifiers:
  MONDO ID: MONDO_0012947
  MESH ID: C567240
  UMLS CUI: C2675487
  OMIM ID: 612581
  MedGen ID: 393397

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KIRREL3	OTW7PENS	Limited	Unknown	[1]
ST3GAL4	OTNENJZQ	Strong	Genetic Variation	[2]

References

• [1] Speech and language development of children with Down's syndrome. Dev Med Child Neurol. 1978 Feb;20(1):106-9. doi: 10.1111/j.1469-8749.1978.tb15189.x.
• [2] Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet. 2008 Dec;83(6):703-13. doi: 10.1016/j.ajhg.2008.10.020. Epub 2008 Nov 13.