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TERT Deficiency

MedGen UID:
925673
Concept ID:
C4288141
Disease or Syndrome

Definition

A condition of decreased or absent presence of telomerase reverse transcriptase. Deficiency of this protein is associated with autosomal dominant dyskeratosis congenital 2, autosomal recessive dyskeratosis congenita 4, telomere-related pulmonary fibrosis, and bone marrow failure 1. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTERT Deficiency

Professional guidelines

PubMed

Fani L, Bak S, Delhanty P, van Rossum EF, van den Akker EL
Int J Obes (Lond) 2014 Feb;38(2):163-9. Epub 2013 Jun 18 doi: 10.1038/ijo.2013.80. PMID: 23774329
Scherf DB, Sarkisyan N, Jacobsson H, Claus R, Bermejo JL, Peil B, Gu L, Muley T, Meister M, Dienemann H, Plass C, Risch A
Oncogene 2013 Jul 11;32(28):3329-38. Epub 2012 Sep 3 doi: 10.1038/onc.2012.344. PMID: 22945651Free PMC Article
Shigematsu Y, Hata I, Tajima G
J Inherit Metab Dis 2010 Oct;33(Suppl 2):S283-8. Epub 2010 May 4 doi: 10.1007/s10545-010-9111-9. PMID: 20440648

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