Dyskeratosis Congenita
Dyskeratosis congenita (DC) er en sjelden ektodermal dysplasi som ofte viser seg med den klassiske triaden av negledysplasi, pigmentforandringer i huden og oral leukoplaki. Den er forbundet med høy risiko for benmargssvikt (BMF) og kreft.
Også kjent som
DC; DKC; Hoyeraal-Hreidarsson syndrome; Zinsser Cole Engman syndrome
Inkluderer 20 beslektede undertyper ↓Skjul undertyper ↑
- autosomal recessive dyskeratosis congenita 4
- DKC1-related disorder
- dyskeratosis congenita and related telomere biology disorder
- dyskeratosis congenita, autosomal dominant 1
- dyskeratosis congenita, autosomal dominant 2
- dyskeratosis congenita, autosomal dominant 3
- dyskeratosis congenita, autosomal dominant 4
- dyskeratosis congenita, autosomal dominant 6
- dyskeratosis congenita, autosomal recessive 1
- dyskeratosis congenita, autosomal recessive 2
- dyskeratosis congenita, autosomal recessive 3
- dyskeratosis congenita, autosomal recessive 5
- dyskeratosis congenita, autosomal recessive 6
- dyskeratosis congenita, autosomal recessive 7
- dyskeratosis congenita, autosomal recessive 8
- dyskeratosis congenita, digenic
- dyskeratosis congenita, X-linked
- Hoyeraal-Hreidarsson syndrome
- pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
- Revesz syndrome
