Details of Disease

General Information of Disease (ID: DISIH9G4)

• Disease Name: Intellectual disability, autosomal dominant 5
• Synonyms: autosomal dominant non-syndromic intellectual disability 5; SYNGAP1-related NSID; mental retardation, autosomal dominant 5; SYNGAP1 syndrome; SYNGAP1-related non-syndromic intellectual disability; SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism; autosomal dominant intellectual disability 5; autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1; intellectual disability, autosomal dominant 5; MRD5; intellectual disability, autosomal dominant type 5; autosomal dominant mental retardation 5; mental retardation, autosomal dominant type 5; SYNGAP1 autosomal dominant non-syndromic intellectual disability
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISIH9G4: Intellectual disability, autosomal dominant 5
• Disease Identifiers:
  MONDO ID: MONDO_0012960
  MESH ID: C567234
  UMLS CUI: C2675473
  OMIM ID: 612621
  MedGen ID: 382611

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
SYNGAP1	OT41HVYQ	Definitive	Autosomal dominant	[1]

References

• [1] De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry. 2011 May 1;69(9):898-901. doi: 10.1016/j.biopsych.2010.11.015. Epub 2011 Jan 15.