- ... Search term GeneReviews Advanced Search Help < Prev Next > Dyskeratosis Congenita and Related Telomere Biology Disorders Synonym: Zinsser-Cole- ... Estimated reading time: 42 minutes Summary Clinical characteristics. Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are ...
- ... congenita. Learn more about the genes associated with Dyskeratosis congenita CTC1 DKC1 TERC TERT TINF2 Additional Information from ...
- ... the BRCA pathogenic variants that decrease protein levels). Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) Dyskeratosis congenita, like Werner syndrome , results in premature aging and ...
- ... functioning proteins. Health Conditions Related to Genetic Changes Dyskeratosis congenita More than 40 mutations in the DKC1 gene have been identified in people with dyskeratosis congenita. This disorder is characterized by changes in skin ...
- ... chromosome ends. Health Conditions Related to Genetic Changes Dyskeratosis congenita At least 20 mutations in the TERC gene have been identified in people with dyskeratosis congenita. This disorder is characterized by changes in skin ...
- ... chromosome ends. Health Conditions Related to Genetic Changes Dyskeratosis congenita At least 40 mutations in the TERT gene have been identified in people with dyskeratosis congenita. This disorder is characterized by changes in skin ...
- ... destruction (apoptosis). Health Conditions Related to Genetic Changes Dyskeratosis congenita At least 15 mutations in the TINF2 gene have been identified in people with dyskeratosis congenita, including a severe form of this disorder called ...
- ... pulmonary hypertension, obstructive sleep apnea, emphysema, GERD, & obesity) Dyskeratosis congenita 1 See Dyskeratosis Congenita and Related Telomere Biology ...
- ... Coats plus syndrome. More About This Health Condition Dyskeratosis congenita MedlinePlus Genetics provides information about Dyskeratosis congenita More ...
- ... DNA repair genes. Telomere biology disorders (e.g., dyskeratosis congenita): Resulting from variants in genes that regulate telomere length. Genes altered in dyskeratosis congenita include ACD , CTC1 , DKC1 , NHP2 , NOP10 , PARN , RTEL1 , ...
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