Details of Disease

General Information of Disease (ID: DISMX8E6)

• Disease Name: Intellectual disability, autosomal dominant 15
• Synonyms: mental retardation, autosomal dominant 15; mental retardation, autosomal dominant type 15; intellectual disability, autosomal dominant 15; MRD15; SMARCB1 Coffin-Siris syndrome; intellectual disability, autosomal dominant type 15; SMARCB1-related BAFopathy; Coffin-Siris syndrome caused by mutation in SMARCB1; COFFIN-SIRIS syndrome 3; CSS3; autosomal dominant mental retardation 15; autosomal dominant intellectual disability 15
• Definition: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.
• Disease Hierarchy:
  DIS8L03H: Coffin-Siris syndrome
  DISQTWXD: BAFopathy
  DIS3HIWD: Autosomal dominant disease
  DISMX8E6: Intellectual disability, autosomal dominant 15
• Disease Identifiers:
  MONDO ID: MONDO_0013820
  UMLS CUI: C3553248
  OMIM ID: 614608
  MedGen ID: 766162

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
SMARCB1	OT2LP7LJ	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.