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GTR Home > Conditions/Phenotypes > Dyskeratosis congenita, digenic

Dyskeratosis congenita, digenic

Summary

Digenic dyskeratosis congenita (DKCD) is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Some patients may have evidence of bone marrow failure, manifest as immune defects such as recurrent infections or hypogammaglobulinemia. Telomeres are shortened in patient cells. Individuals with DKCD may show severe adverse reactions to treatment with 5-FU (Tummala et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DKCD, HST422, TMS, TS, TYMS
    Summary: thymidylate synthetase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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