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Disease Dyskeratosis Congenita

Name Dyskeratosis Congenita
Synonyms CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED | Congenita, X-Linked Dyskeratosis | DKCX | Dyskeratosis Congenita, X Linked | Dyskeratosis Congenita, X-Linked | GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED | HHS, INCLUDED | Syndrome, Zinsser-Cole-Engman | X-Linked Dyskeratosis Congenita | X-Linked Dyskeratosis Congenitas | Zinsser Cole Engman Syndrome | Zinsser-Cole-Engman Syndrome | ZINSSER-COLE-ENGMAN SYNDROME HOYERAAL-HREIDARSSON SYNDROME, INCLUDED
Definition 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.
Categories Congenital abnormality | Genetic disease (inborn) | Skin disease
MeSH® ID D019871
OMIM® ID 305000
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Dyskeratosis Congenita Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Dyskeratosis Congenita Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Dyskeratosis Congenita Has associated chemicals Has associated genes
4. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Dyskeratosis Congenita Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Dyskeratosis Congenita Has associated chemicals Has associated genes

Top ↑ Descendants

Dyskeratosis Congenita Has associated chemicals Has associated genes
  Dyskeratosis Congenita, Autosomal Dominant Has associated chemicals Has associated genes
  Dyskeratosis Congenita, Autosomal Recessive Has associated chemicals Has associated genes
  Hoyeraal Hreidarsson syndrome Has associated chemicals Has associated genes