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GENATLAS PHENOTYPE

last update : 17-10-2018

Symbol	DKCB3
Location	17p13.1
Name	dyskeratosis congenita-3, autosomal recessive
Corresponding gene	WRAP53
Main clinical features	disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition with very short telomeres leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Remark(s)

WRAP53 mutations result in mislocalization of the telomerase complex without affecting telomerase activity