Details of Disease

General Information of Disease (ID: DIS6CBUY)

• Disease Name: Intellectual disability, autosomal dominant 33
• Synonyms: mental retardation, autosomal dominant 33; autosomal dominant non-syndromic intellectual disability 33; mental retardation, autosomal dominant type 33; MRD33; intellectual disability, autosomal dominant 33; DPP6 autosomal dominant non-syndromic intellectual disability; autosomal dominant mental retardation 33; autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6; autosomal dominant intellectual disability 33; intellectual disability, autosomal dominant type 33
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.
• Disease Hierarchy:
  DISD6L06: Autosomal dominant non-syndromic intellectual disability
  DIS6CBUY: Intellectual disability, autosomal dominant 33
• Disease Identifiers:
  MONDO ID: MONDO_0014580
  UMLS CUI: C4225375
  OMIM ID: 616311
  MedGen ID: 899389

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
DPP6	OTWW3H0K	Limited	Unknown	[1]

References

• [1] Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. Eur J Med Genet. 2013 Sep;56(9):484-9. doi: 10.1016/j.ejmg.2013.06.008. Epub 2013 Jul 5.