Related MeSH Hierarchy (6)
Diseases [C] » Hemic and Lymphatic Diseases [C15] » Hematologic Diseases » Bone Marrow Diseases » Bone Marrow Failure Disorders » Congenital Bone Marrow Failure Syndromes » Dyskeratosis Congenita
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Skin Abnormalities » Dyskeratosis Congenita
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Dyskeratosis Congenita
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » Dyskeratosis Congenita
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Abnormalities » Dyskeratosis Congenita
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Dyskeratosis Congenita
Description
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. MeSH
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Phase 2 Indicated Drugs (4)
Phase 1 Indicated Drugs (1)
Other Experimental Indicated Drugs (1)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (8)
Organization Involved with Phase 1 Indications (1)
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UMLS Data
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