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

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GTR
MeSH

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the 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

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Prognosis

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

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Clinical prediction guides

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

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

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Dyskeratosis congenita, autosomal dominant 4(DKCA4)

Term Hierarchy

Recent clinical studies

Etiology

Prognosis

Clinical prediction guides

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