Details of Disease

General Information of Disease (ID: DISALM9J)

• Disease Name: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
• Synonyms: mental retardation, autosomal dominant 23; autosomal dominant non-syndromic intellectual disability 23; intellectual disability, autosomal dominant 23; autosomal dominant intellectual disability 23; intellectual developmental disorder, autosomal dominant 23; autosomal dominant mental retardation 23; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency; MRD23; intellectual disability, autosomal dominant type 23; mental retardation, autosomal dominant type 23
• Disease Hierarchy:
  DIS3HIWD: Autosomal dominant disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISALM9J: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
• Disease Identifiers:
  MONDO ID: MONDO_0014336
  UMLS CUI: C3810406
  OMIM ID: 615761
  MedGen ID: 816736
  Orphanet ID: 404440

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
SETD5	OTRPAVEO	Definitive	Autosomal dominant	[1]

References

• [1] Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20.