Dyskeratosis Congenita X-Linked

Common Name(s)

Dyskeratosis Congenita X-Linked

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. The disorder is caused by defects in the maintenance of telomeres (summary by {32:Kirwan and Dokal, 2008}). Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {55:Walne et al., 2013}). 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 X-Linked" for support, advocacy or research.

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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 X-Linked" returned 12 free, full-text research articles on human participants. First 3 results:

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
 

Author(s): Xi-Lei Zeng, Naresh R Thumati, Helen B Fleisig, Kyle R Hukezalie, Sharon A Savage, Neelam Giri, Blanche P Alter, Judy M Y Wong

Journal: Hum. Mol. Genet.. 2012 Feb;21(4):721-9.

 

X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous. Peripheral mononuclear blood cells and fibroblasts isolated from X-DC patients harbor lower steady-state ...

Last Updated: 24 Jan 2012

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Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
 

Author(s): Erin M Parry, Jonathan K Alder, Stella S Lee, John A Phillips, James E Loyd, Priya Duggal, Mary Armanios

Journal: J. Med. Genet.. 2011 May;48(5):327-33.

 

Dyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres. An X-linked form of DC is caused by mutations in DKC1 which encodes dyskerin, a telomerase component that is essential for telomerase RNA stability. However, mutations in DKC1 are identifiable ...

Last Updated: 28 Apr 2011

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Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita.
 

Author(s): Cristian Bellodi, Noam Kopmar, Davide Ruggero

Journal: EMBO J.. 2010 Jun;29(11):1865-76.

 

Defects in ribosome biogenesis and function are present in a growing list of human syndromes associated with cancer susceptibility. One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, encoding for an enzyme that modifies ribosomal RNA, is found to be mutated. ...

Last Updated: 2 Jun 2010

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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 X-Linked" returned 1 free, full-text review articles on human participants. First 3 results:

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation.
 

Author(s): W F Safa, G G Lestringant, P M Frossard

Journal: Thorax. 2001 Nov;56(11):891-4.

 

Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations ...

Last Updated: 19 Oct 2001

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Hoyeraal Hreidarsson Syndrome; Revesz Syndrome; Aplastic Anemia

 

Last Updated: 28 Aug 2012

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SCT for Dyskeratosis Congenita or SAA
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 4 Mar 2014

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Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Fanconi Anemia; Dyskeratosis Congenita

 

Last Updated: 20 Apr 2011

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