" /> Dyskeratosis congenita, autosomal dominant 3 - CISMeF





Preferred Label : Dyskeratosis congenita, autosomal dominant 3;

Symbol : DKCA3;

CISMeF acronym : DKCA3;

Type : Phenotype, molecular basis known;

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 (summary by Savage et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TRF1-interacting nuclear factor 2 gene (TINF2, 604319.0001);

Neoplasia : Increased risk of malignancy;

Laboratory abnormalities : Shortened telomeres; Decreased telomerase activity;

Prefixed ID : #613990;

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30/07/2025


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