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Dyskeratosis congenita

MONDO:0015780

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Also known as: DC, DKC, Zinsser-Engman-Cole syndrome, dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Zinsser Cole Engman syndrome

43 clinical trials for this condition and its sub-types.

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Sub-types

Hoyeraal-Hreidarsson syndrome (3) Revesz syndrome (2) Dyskeratosis congenita and related telomere biology disorder (1) Autosomal recessive dyskeratosis congenita 4 (0) DKC1-related disorder (0) Dyskeratosis congenita, autosomal dominant 1 (0) Dyskeratosis congenita, autosomal dominant 2 (0) Dyskeratosis congenita, autosomal dominant 3 (0) Dyskeratosis congenita, autosomal dominant 4 (0) Dyskeratosis congenita, autosomal dominant 6 (0) Dyskeratosis congenita, autosomal recessive 1 (0) Dyskeratosis congenita, autosomal recessive 2 (0) Dyskeratosis congenita, autosomal recessive 3 (0) Dyskeratosis congenita, autosomal recessive 5 (0) Dyskeratosis congenita, autosomal recessive 6 (0) Dyskeratosis congenita, autosomal recessive 7 (0) Dyskeratosis congenita, autosomal recessive 8 (0) Dyskeratosis congenita, digenic (0) Dyskeratosis congenita, X-linked (0) Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (0)

Broader categories

Disease (680) Hereditary disease (176) Skin disorder (132) Inherited disease susceptibility (79) Hereditary neoplastic syndrome (59) Syndromic disease (25) Human disease (14) Neoplastic disease or syndrome (7) Hereditary skin disorder (6) Disease susceptibility (3)

Trials to join now! 23 Not yet recruiting 2 Not yet finished but already full! 12 Completed 6