Dyskeratosis Congenita
A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region.
Exact Synonyms
DKC
Dyskeratosis Congenita
Zinsser-Engman-Cole Syndrome
class Information
code
C111802
Contributing_Source
- CCPS
- Cellosaurus
- CTRP
Display_Name
Dyskeratosis Congenita
in_subset
Preferred_Name
Dyskeratosis Congenita
Related_To_Genetic_Biomarker
Semantic_Type
Disease or Syndrome
UMLS_CUI
C0265965
class Relations
Subclass of