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GENATLAS PHENOTYPE

last update : 02-11-2022

Symbol	DKCD
Location	18p11.32
Name	dyskeratosis congenita, digenic
Corresponding gene	TYMS
Main clinical features	combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia; also bone marrow failure, manifesting as immune defects such as recurrent infections or hypogammaglobulinemia telomeres are shortened in patient cells
Genetic determination	not applicable
Function/system disorder	dermatology
	defense and immunity
Type	disease

Remark(s)

. germline variants at the TYMS-ENOSF1 locus give rise to severe thymidylate synthase deficiency that disrupts the nucleotide metabolism pathway and that this disruption drives molecular features of genome instability and senescence in a homogenous cohort of DC individuals (PMID: 35931051))