"Dyskeratosis Congenita" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
| Descriptor ID |
D019871
|
| MeSH Number(s) |
C16.131.831.150 C16.320.322.108 C16.320.850.235 C17.800.804.150 C17.800.827.235
|
| Concept/Terms |
Zinsser-Cole-Engman Syndrome- Zinsser-Cole-Engman Syndrome
- Syndrome, Zinsser-Cole-Engman
- Zinsser Cole Engman Syndrome
- Dyskeratosis Congenita, X-Linked
- Congenita, X-Linked Dyskeratosis
- Dyskeratosis Congenita, X Linked
- X-Linked Dyskeratosis Congenita
- X-Linked Dyskeratosis Congenitas
|
Below are MeSH descriptors whose meaning is more general than "Dyskeratosis Congenita".
Below are MeSH descriptors whose meaning is more specific than "Dyskeratosis Congenita".
This graph shows the total number of publications written about "Dyskeratosis Congenita" by people in this website by year, and whether "Dyskeratosis Congenita" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dyskeratosis Congenita" by people in Profiles.
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PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation. Clin Epigenetics. 2020 08 20; 12(1):125.
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Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies. Ann N Y Acad Sci. 2020 04; 1466(1):93-103.
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Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. Leukemia. 2018 08; 32(8):1762-1767.
MeSH information
