U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Dyskeratosis congenita, autosomal recessive 2(DKCB2)

MedGen UID:
462791
Concept ID:
C3151441
Disease or Syndrome
Synonym: DKCB2
 
NHP2 (5q35.3)
 
Monarch Initiative: MONDO:0013519
OMIM®: 613987
Authors:

Additional description

From OMIM
Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).  http://www.omim.org/entry/613987

Clinical features

From HPO

Recent clinical studies

Etiology

Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article

Diagnosis

Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article
Shao Y, Feng S, Huang J, Huo J, You Y, Zheng Y
BMC Med Genet 2018 Mar 7;19(1):40. doi: 10.1186/s12881-018-0549-1. PMID: 29514627Free PMC Article
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A
Genes Dev 2012 Sep 1;26(17):1911-25. Epub 2012 Aug 16 doi: 10.1101/gad.193169.112. PMID: 22899009Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
DeBauche DM, Pai GS, Stanley WS
Am J Hum Genet 1990 Feb;46(2):350-7. PMID: 2301400Free PMC Article

Therapy

Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article

Prognosis

Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A
Genes Dev 2012 Sep 1;26(17):1911-25. Epub 2012 Aug 16 doi: 10.1101/gad.193169.112. PMID: 22899009Free PMC Article
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
Blood 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4 doi: 10.1182/blood-2006-12-062851. PMID: 17785587Free PMC Article
Güngör T, Corbacioglu S, Storb R, Seger RA
Bone Marrow Transplant 2003 Mar;31(5):407-10. doi: 10.1038/sj.bmt.1703844. PMID: 12634734

Clinical prediction guides

Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A
Genes Dev 2012 Sep 1;26(17):1911-25. Epub 2012 Aug 16 doi: 10.1101/gad.193169.112. PMID: 22899009Free PMC Article
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
Blood 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4 doi: 10.1182/blood-2006-12-062851. PMID: 17785587Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
External link. Please review our privacy policy.