WRAP53 Gene
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.
C0265965
C111802
CCPS
CTRP
Cellosaurus
DKC
Disease or Syndrome
Dyskeratosis Congenita
Dyskeratosis Congenita
Dyskeratosis Congenita
Zinsser-Engman-Cole Syndrome
DKC1 Gene
CTRP Terminology
CTRP Disease Terminology
ACD Gene
RTEL1 Gene
NOP10 Gene
NHP2 Gene
PARN Gene
Genodermatosis
Cellosaurus Disease Terminology
Childhood Cancer Predisposition Study Terminology
CCPS Disease Terminology
TERT Gene
Cellosaurus Terminology
TERC Gene
TINF2 Gene