Details of Disease

General Information of Disease (ID: DISWARCU)

• Disease Name: Intellectual disability, autosomal dominant 9
• Synonyms: mental retardation, autosomal dominant 9; autosomal dominant non-syndromic intellectual disability 9; intellectual disability, autosomal dominant 9; autosomal dominant mental retardation 9; KIF1A autosomal dominant non-syndromic intellectual disability; autosomal dominant intellectual disability 9; autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A; mental retardation, autosomal dominant type 9; MRD9; NESCAV syndrome; intellectual disability, autosomal dominant type 9
• Definition: An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.
• Disease Hierarchy:
  DISAVQN1: KIF1A related neurological disorder
  DIS1I87P: Intellectual disability, autosomal dominant
  DISWARCU: Intellectual disability, autosomal dominant 9
• Disease Identifiers:
  MONDO ID: MONDO_0013656
  UMLS CUI: C5393830
  OMIM ID: 614255
  MedGen ID: 1714250

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
KIF1A	OT3JVEGV	Definitive	Autosomal dominant	[1]

References

• [1] De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.