Intellectual disability syndrome due to a DYRK1A point mutation

MedGen UID:: 1826160
•Concept ID:: C5679991
•: Disease or Syndrome

Synonyms:	DYRK1A-related intellectual disability syndrome due to a point mutation; intellectual disability syndrome due to a DYRK1A point mutation

Monarch Initiative:	MONDO:0018733
Orphanet:	ORPHA464311

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Intellectual disability syndrome due to a DYRK1A point mutation

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- DYRK1A-related intellectual disability syndrome
  - Intellectual disability syndrome due to a DYRK1A point mutation

Recent clinical studies

Etiology

Dyrk1A phosphorylates p53 and inhibits proliferation of embryonic neuronal cells.

Park J, Oh Y, Yoo L, Jung MS, Song WJ, Lee SH, Seo H, Chung KC
J Biol Chem 2010 Oct 8;285(41):31895-906. Epub 2010 Aug 9 doi: 10.1074/jbc.M110.147520. PMID: 20696760 Free PMC Article

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Diagnosis

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

Luco SM, Pohl D, Sell E, Wagner JD, Dyment DA, Daoud H
BMC Med Genet 2016 Feb 27;17:15. doi: 10.1186/s12881-016-0276-4. PMID: 26922654 Free PMC Article

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Intellectual disability syndrome due to a DYRK1A point mutation

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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