Details of Disease

General Information of Disease (ID: DIS3L7HA)

• Disease Name: Intellectual disability, autosomal dominant 16
• Synonyms: mental retardation, autosomal dominant 16; CSS4; Coffin-Siris syndrome caused by mutation in SMARCA4; COFFIN-SIRIS syndrome 4; mental retardation, autosomal dominant type 16; SMARCA4-related BAFopathy; intellectual disability, autosomal dominant 16; MRD16; SMARCA4 Coffin-Siris syndrome; autosomal dominant mental retardation 16; autosomal dominant intellectual disability 16; intellectual disability, autosomal dominant type 16
• Definition: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.
• Disease Hierarchy:
  DIS8L03H: Coffin-Siris syndrome
  DISQTWXD: BAFopathy
  DIS3HIWD: Autosomal dominant disease
  DIS3L7HA: Intellectual disability, autosomal dominant 16
• Disease Identifiers:
  MONDO ID: MONDO_0013821
  UMLS CUI: C3553249
  OMIM ID: 614609
  MedGen ID: 766163

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMARCA4	TTVQEZS	Strong	Autosomal dominant	[1]
SMARCA4	TTVQEZS	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMARCA4	OT68WOPQ	Strong	Autosomal dominant	[1]

References

• [1] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.