This report describes general characteristics of the group of diseases classified as dyskeratosis congenita (DKC). Dyskeratosis congenita is a genetically heterogeneous disorder with multiple causative genes and mapped loci. A comprehensive list of DKC subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Nov. 2016 by FlyBase; FBrf0222196]
Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature (summary by Kirwan and Dokal, 2008; pubmed:18005359). [from MIM:305000; 2016.11.07]
Dyskeratosis congenita is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008; pubmed:18005359). [from MIM:305000; 2016.11.07]
