Details of Disease

General Information of Disease (ID: DIS83XC2)

• Disease Name: Intellectual disability, autosomal recessive 13
• Synonyms: mental retardation, autosomal recessive 13; MRT13; mental retardation, autosomal recessive type 13; intellectual disability, autosomal recessive 13; intellectual disability, autosomal recessive type 13; autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9; TRAPPC9 autosomal recessive non-syndromic intellectual disability
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS83XC2: Intellectual disability, autosomal recessive 13
• Disease Identifiers:
  MONDO ID: MONDO_0013173
  MESH ID: C567714
  UMLS CUI: C2750791
  OMIM ID: 613192
  MedGen ID: 442564

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
TRAPPC9	OTF0CVMC	Definitive	Autosomal recessive	[1]

References

• [1] Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet. 2009 Dec;85(6):903-8. doi: 10.1016/j.ajhg.2009.11.007.