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Dyskeratosis congenita, autosomal dominant 4(DKCA4)

MedGen UID:: 815132
•Concept ID:: C3808802
•: Disease or Syndrome

Synonyms:	DKCA4; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4

Monarch Initiative:	MONDO:0800366
OMIM®:	608833; 615190

Term Hierarchy

GTR
MeSH

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Congenital anomaly of skin
      - Dyskeratosis congenita
        Dyskeratosis congenita, autosomal dominant 1
        Dyskeratosis congenita, autosomal dominant 4

Recent clinical studies

Etiology

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

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: 37184208 Free PMC Article

Disease progression and clinical outcomes in telomere biology disorders.

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: 34852175 Free PMC Article

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP
Am J Hum Genet 2012 Mar 9;90(3):426-33. Epub 2012 Feb 16 doi: 10.1016/j.ajhg.2012.01.004. PMID: 22341970 Free PMC Article

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ, Dokal I
Biochimie 2008 Jan;90(1):122-30. Epub 2007 Jul 31 doi: 10.1016/j.biochi.2007.07.017. PMID: 17825470

See all (4)

Diagnosis

Disease progression and clinical outcomes in telomere biology disorders.

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: 34852175 Free PMC Article

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ, Dokal I
Biochimie 2008 Jan;90(1):122-30. Epub 2007 Jul 31 doi: 10.1016/j.biochi.2007.07.017. PMID: 17825470

Dyskeratosis congenita.

Handley TP, McCaul JA, Ogden GR
Oral Oncol 2006 Apr;42(4):331-6. Epub 2005 Sep 2 doi: 10.1016/j.oraloncology.2005.06.007. PMID: 16140563

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Dokal I, Vulliamy T
Blood Rev 2003 Dec;17(4):217-25. doi: 10.1016/s0268-960x(03)00020-1. PMID: 14556776

Hereditary benign intraepithelial dyskeratosis: Report of two cases with prominent oral lesions.

Haisley-Royster CA, Allingham RR, Klintworth GK, Prose NS
J Am Acad Dermatol 2001 Oct;45(4):634-6. doi: 10.1067/mjd.2001.116336. PMID: 11568764

See all (12)

Therapy

Disease progression and clinical outcomes in telomere biology disorders.

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: 34852175 Free PMC Article

See all (1)

Prognosis

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain.

Yingling YG, Shapiro BA
J Biomol Struct Dyn 2007 Feb;24(4):303-20. doi: 10.1080/07391102.2007.10531238. PMID: 17206847

See all (2)

Clinical prediction guides

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

Disease progression and clinical outcomes in telomere biology disorders.

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: 34852175 Free PMC Article

Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.

Aubert G, Strauss KA, Lansdorp PM, Rider NL
J Allergy Clin Immunol 2017 Oct;140(4):1120-1129.e1. Epub 2017 Jan 23 doi: 10.1016/j.jaci.2016.11.051. PMID: 28126377

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.

Johnson CA, Hatfield M, Pulido JS
Ophthalmic Genet 2009 Dec;30(4):181-4. doi: 10.3109/13816810903148012. PMID: 19852575

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I
Blood Cells Mol Dis 2005 May-Jun;34(3):257-63. doi: 10.1016/j.bcmd.2004.12.008. PMID: 15885610

See all (8)

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Dyskeratosis congenita, autosomal dominant 4(DKCA4)

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Genetic Testing Registry

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