dyskeratosis congenita

Summary
Synonym
  • DKCD
Definition
A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
Super Class
digenic disease skin disease
Disease Ontology
DOID:2729
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1736 DKC1 dyskerin pseudouridine synthase 1
7157 TP53 tumor protein p53
7298 TYMS thymidylate synthetase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
22059 Trp53 transformation related protein 53
245474 Dkc1 dyskeratosis congenita 1, dyskerin
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24842 Tp53 tumor protein p53
170944 Dkc1 dyskerin pseudouridine synthase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024