Details of Disease

General Information of Disease (ID: DIS3TFC6)

• Disease Name: Intellectual disability, autosomal dominant 29
• Synonyms: SETBP1 related developmental delay; autosomal dominant non-syndromic intellectual disability 29; SETBP1 disorder; SETBP1-related intellectual disability; SETBP1-related disorder; mental retardation, autosomal dominant 29; autosomal dominant intellectual disability 29; intellectual disability, autosomal dominant type 29; mental retardation, autosomal dominant type 29; SETBP1 Haploinsufficiency Disorder; intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1; MRD29; autosomal dominant mental retardation 29; SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome; intellectual disability, autosomal dominant 29
• Definition: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS3HIWD: Autosomal dominant disease
  DIS3TFC6: Intellectual disability, autosomal dominant 29
• Disease Identifiers:
  MONDO ID: MONDO_0014482
  UMLS CUI: C4015141
  OMIM ID: 616078
  MedGen ID: 863578

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
SETBP1	OTKGCOSR	Strong	Autosomal dominant	[1]

References

• [1] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet. 2011 Feb;48(2):117-22. doi: 10.1136/jmg.2010.084582. Epub 2010 Oct 30.