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, 12 tagged with Dyskeratosis congenita itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary neoplastic syndrome (731) ↑ Ectodermal dysplasia syndrome (45)

Sub-types of Dyskeratosis congenita

DKC1-related disorder 0 trials · 3 incl. sub-types
1 sub-type
- Dyskeratosis congenita, X-linked 0 trials · 3 incl. sub-types Sub-types →
Revesz syndrome 2 trials
Dyskeratosis congenita and related telomere biology disorder 1 trial
2 sub-types
- Dyskeratosis congenita, autosomal recessive 5 0 trials
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 trials
Autosomal recessive dyskeratosis congenita 4 0 trials
Dyskeratosis congenita, autosomal dominant 1 0 trials
Dyskeratosis congenita, autosomal dominant 2 0 trials
Dyskeratosis congenita, autosomal dominant 3 0 trials
Dyskeratosis congenita, autosomal dominant 4 0 trials
Dyskeratosis congenita, autosomal dominant 6 0 trials
Dyskeratosis congenita, autosomal recessive 1 0 trials
Dyskeratosis congenita, autosomal recessive 2 0 trials
Dyskeratosis congenita, autosomal recessive 3 0 trials
Dyskeratosis congenita, autosomal recessive 6 0 trials
Dyskeratosis congenita, autosomal recessive 7 0 trials
Dyskeratosis congenita, autosomal recessive 8 0 trials
Dyskeratosis congenita, digenic 0 trials

Most studied deeper sub-types

Hoyeraal-Hreidarsson syndrome (3)

Including sub-types (43) Tagged with Dyskeratosis congenita (12)

Trials to join now! 9 Not yet finished but already full! 3

Dyskeratosis congenita

Where it sits in the disease tree

Most studied deeper sub-types

New transplant method aims to reduce complications in bone marrow failure patients

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