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Dyskeratosis Congenita MeSH Descriptor Data 2021


MeSH Heading
Dyskeratosis Congenita
Tree Number(s)
C15.378.190.223.500.750
C16.131.831.150
C16.320.322.108
C16.320.850.235
C17.800.804.150
C17.800.827.235
Unique ID
D019871
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D019871
Scope Note
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.
Entry Term(s)
Dyskeratosis Congenita, X-Linked
Zinsser-Cole-Engman Syndrome
Public MeSH Note
98
History Note
98
Date Established
1998/01/01
Date of Entry
1997/06/20
Revision Date
2019/06/17
Dyskeratosis Congenita Preferred
Zinsser-Cole-Engman Syndrome Narrower
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