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
External Links
Disease Ontology
DOID:2729
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
7157 TP53 tumor protein p53
9524 TECR trans-2,3-enoyl-CoA reductase
60495 HPSE2 heparanase 2 (inactive)
64083 GOLPH3 golgi phosphoprotein 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
22059 Trp53 transformation related protein 53
Displaying 1 entry
Gene ID Gene Symbol Description Source
24842 Tp53 tumor protein p53
Related Glycoprotein

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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: August 19, 2024