Dyskeratosis Congenita, Autosomal Dominant 3

Alternative Names

  • DKCA3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

613990

Mode of Inheritance

Autosomal dominant

Gene Map Locus

14q12

Description

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613990.1United Arab EmiratesMaleNoYes Recurrent pneumoniaNM_001099274.1:c.734C>AHeterozygousAutosomal, DominantAlsamri et al. 2020; Alsamri et al. 2021 Authors mention that...
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