Dyskeratosis Congenita Autosomal Recessive

Common Name(s)

Dyskeratosis Congenita Autosomal Recessive

Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. 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. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {7:Kirwan and Dokal, 2008}). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dyskeratosis Congenita Autosomal Recessive" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dyskeratosis Congenita Autosomal Recessive" returned 2 free, full-text research articles on human participants. First 3 results:

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
 

Author(s): Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard Beswick, Tom Vulliamy, Inderjeet Dokal

Journal: Blood. 2007 Dec;110(13):4198-205.

 

Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) ...

Last Updated: 6 Dec 2007

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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
 

Author(s): Amanda J Walne, Tom Vulliamy, Anna Marrone, Richard Beswick, Michael Kirwan, Yuka Masunari, Fat-Hia Al-Qurashi, Mahmoud Aljurf, Inderjeet Dokal

Journal: Hum. Mol. Genet.. 2007 Jul;16(13):1619-29.

 

Dyskeratosis congenita (DC) is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. It exhibits marked clinical and genetic heterogeneity. DKC1 encoding dyskerin, a component of H/ACA small nucleolar ...

Last Updated: 25 Jun 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dyskeratosis Congenita Autosomal Recessive" returned 0 free, full-text review articles on human participants.

 
 
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