Details of Disease

General Information of Disease (ID: DISLXA7U)

• Disease Name: Intellectual disability, autosomal recessive 50
• Synonyms: MRT50; mental retardation, autosomal recessive 50; intellectual developmental disorder, autosomal recessive 50; intellectual disability, autosomal recessive type 50; intellectual disability, autosomal recessive 50; EDC3 autosomal recessive non-syndromic intellectual disability; mental retardation, autosomal recessive type 50; autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISLXA7U: Intellectual disability, autosomal recessive 50
• Disease Identifiers:
  MONDO ID: MONDO_0014649
  UMLS CUI: C4225319
  OMIM ID: 616460
  MedGen ID: 906893

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
EDC3	OTYS7O69	Limited	Autosomal recessive	[1]

References

• [1] Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015 Jun 1;24(11):3172-80. doi: 10.1093/hmg/ddv069. Epub 2015 Feb 20.