Details of Disease

General Information of Disease (ID: DIS1HFXK)

• Disease Name: Intellectual disability, autosomal recessive 59
• Synonyms: mental retardation, autosomal recessive 59; intellectual disability, autosomal recessive type 59; intellectual disability, autosomal recessive 59; IMPA1 autosomal recessive non-syndromic intellectual disability; autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1; MRT59; mental retardation, autosomal recessive type 59
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS1HFXK: Intellectual disability, autosomal recessive 59
• Disease Identifiers:
  MONDO ID: MONDO_0015020
  UMLS CUI: C4310619
  OMIM ID: 617323
  MedGen ID: 934586

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
IMPA1	OTBUVW1Z	Limited	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.