Details of Disease

General Information of Disease (ID: DISBIFAB)

• Disease Name: Intellectual disability, autosomal dominant 43
• Synonyms: autosomal dominant non-syndromic intellectual disability 43; autosomal dominant intellectual disability-43; HIVEP2-related intellectual disability; autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2; intellectual disability, autosomal dominant type 43; autosomal dominant intellectual disability 43; intellectual disability, autosomal dominant 43; autosomal dominant mental retardation 43; mental retardation, autosomal dominant 43; MRD43; HIVEP2 autosomal dominant non-syndromic intellectual disability; mental retardation, autosomal dominant type 43
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.
• Disease Hierarchy:
  DISD6L06: Autosomal dominant non-syndromic intellectual disability
  DISBIFAB: Intellectual disability, autosomal dominant 43
• Disease Identifiers:
  MONDO ID: MONDO_0014858
  UMLS CUI: C4310771
  OMIM ID: 616977
  MedGen ID: 934738

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
HIVEP2	OTVOMCW4	Strong	Autosomal dominant	[1]

References

• [1] Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.