Details of Disease

General Information of Disease (ID: DISPYXMD)

• Disease Name: Intellectual disability, autosomal dominant 14
• Synonyms: Coffin-Siris syndrome 2; COFFIN-SIRIS syndrome 2; mental retardation, autosomal dominant 14; autosomal dominant mental retardation 14; intellectual disability, autosomal dominant 14; Coffin-Siris syndrome caused by mutation in ARID1A; ARID1A-related BAFopathy; autosomal dominant intellectual disability 14; CSS2; mental retardation, autosomal dominant type 14; ARID1A Coffin-Siris syndrome; intellectual disability, autosomal dominant type 14; MRD14
• Definition: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.
• Disease Hierarchy:
  DIS8L03H: Coffin-Siris syndrome
  DISQTWXD: BAFopathy
  DIS3HIWD: Autosomal dominant disease
  DISPYXMD: Intellectual disability, autosomal dominant 14
• Disease Identifiers:
  MONDO ID: MONDO_0013819
  UMLS CUI: C3553247
  OMIM ID: 614607
  MedGen ID: 766161

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
ARID1A	OTRWDV3P	Strong	Autosomal dominant	[1]

References

• [1] Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30.