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Telomere syndrome

MedGen UID:
1668986
Concept ID:
C4727832
Disease or Syndrome
Synonyms: short telomere syndrome; STS; Telomere Disease; Telomere Syndrome; telomere syndrome
 
Monarch Initiative: MONDO:0100137

Definition

A group of disorders caused by mutation(s) that disrupt the maintenance of telomeres, resulting in the short telomere defect. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTelomere syndrome

Professional guidelines

PubMed

Ongie L, Raj HA, Stevens KB
Curr Hematol Malig Rep 2023 Dec;18(6):273-283. Epub 2023 Oct 3 doi: 10.1007/s11899-023-00713-8. PMID: 37787873
Manali ED, Kannengiesser C, Borie R, Ba I, Bouros D, Markopoulou A, Antoniou K, Kolilekas L, Papaioannou AI, Tzilas V, Tzouvelekis A, Daniil Z, Fouka E, Papakosta D, Xyfteri A, Karakatsani A, Loukides S, Korbila I, Tomos IP, Konstantinidis AK, Gogali A, Steiropoulos P, Papanikolaou IC, Bazaka C, Haritou A, Vassilakopoulos T, Maniati M, Kagouridis K, Markozannes E, Bouros E, Rampiadou C, Kounti G, Trachalaki A, Dimeas I, Karampitsakos T, Lyberopoulos P, Malamadakis N, Spyropoulou S, Revy P, Lainey E, Dieudé P, Rebah K, Ménard C, Oudin C, Masson C, Plessier A, Legendre M, Nathan N, Coulomb-L'Hermine A, Clement A, Amselem S, Boileau C, Crestani B, Papiris S; Greek Group of ILD Investigators
Respiration 2022;101(6):531-543. Epub 2022 Jan 25 doi: 10.1159/000520657. PMID: 35078193

Recent clinical studies

Therapy

Gibson A, Ragoonanan D, Tewari P, Petropoulos D, Rodriguez N, DiNardo C, Mahadeo KM, Khazal S
Pediatr Transplant 2022 Mar;26(2):e14157. Epub 2021 Oct 8 doi: 10.1111/petr.14157. PMID: 34626046
Gaysinskaya V, Stanley SE, Adam S, Armanios M
Chest 2020 Dec;158(6):2449-2457. Epub 2020 Jul 22 doi: 10.1016/j.chest.2020.07.025. PMID: 32710892Free PMC Article
Stanley SE, Chen JJ, Podlevsky JD, Alder JK, Hansel NN, Mathias RA, Qi X, Rafaels NM, Wise RA, Silverman EK, Barnes KC, Armanios M
J Clin Invest 2015 Feb;125(2):563-70. Epub 2014 Dec 22 doi: 10.1172/JCI78554. PMID: 25562321Free PMC Article

Prognosis

DeBoy EA, Tassia MG, Schratz KE, Yan SM, Cosner ZL, McNally EJ, Gable DL, Xiang Z, Lombard DB, Antonarakis ES, Gocke CD, McCoy RC, Armanios M
N Engl J Med 2023 Jun 29;388(26):2422-2433. Epub 2023 May 4 doi: 10.1056/NEJMoa2300503. PMID: 37140166Free PMC Article
McNally EJ, Luncsford PJ, Armanios M
J Clin Invest 2019 Aug 5;129(9):3474-3481. doi: 10.1172/JCI120851. PMID: 31380804Free PMC Article
Molina-Molina M, Borie R
Curr Opin Pulm Med 2018 Sep;24(5):440-444. doi: 10.1097/MCP.0000000000000506. PMID: 30067250
Blackburn EH, Epel ES, Lin J
Science 2015 Dec 4;350(6265):1193-8. doi: 10.1126/science.aab3389. PMID: 26785477
Stanley SE, Chen JJ, Podlevsky JD, Alder JK, Hansel NN, Mathias RA, Qi X, Rafaels NM, Wise RA, Silverman EK, Barnes KC, Armanios M
J Clin Invest 2015 Feb;125(2):563-70. Epub 2014 Dec 22 doi: 10.1172/JCI78554. PMID: 25562321Free PMC Article

Clinical prediction guides

Munroe M, Niero EL, Fok WC, Vessoni AT, Jeong HC, Brenner KA, Batista LFZ
Hepatology 2020 Oct;72(4):1412-1429. Epub 2020 Aug 26 doi: 10.1002/hep.31414. PMID: 32516515Free PMC Article
Schratz KE, Armanios M
Curr Opin Genet Dev 2020 Feb;60:112-118. Epub 2020 Apr 7 doi: 10.1016/j.gde.2020.02.019. PMID: 32276199Free PMC Article
McNally EJ, Luncsford PJ, Armanios M
J Clin Invest 2019 Aug 5;129(9):3474-3481. doi: 10.1172/JCI120851. PMID: 31380804Free PMC Article
Alder JK, Hanumanthu VS, Strong MA, DeZern AE, Stanley SE, Takemoto CM, Danilova L, Applegate CD, Bolton SG, Mohr DW, Brodsky RA, Casella JF, Greider CW, Jackson JB, Armanios M
Proc Natl Acad Sci U S A 2018 Mar 6;115(10):E2358-E2365. Epub 2018 Feb 20 doi: 10.1073/pnas.1720427115. PMID: 29463756Free PMC Article
Blackburn EH, Epel ES, Lin J
Science 2015 Dec 4;350(6265):1193-8. doi: 10.1126/science.aab3389. PMID: 26785477

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