Preferred Label : Cutaneous telangiectasia and cancer syndrome, familial;
Symbol : FCTCS;
CISMeF acronym : FCTCS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Telangiectasia, cutaneous, and cancer syndrome, familial;
Description : Patients with this syndrome develop cutaneous telangiectases in infancy with patchy
alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental
and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal
cancer, and other malignancies have been reported as well (Tanaka et al., 2012).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the ATR serine/threonine kinase gene (ATR, 601215.0002);
Neoplasia : Oropharyngeal cancer; Nonmelanoma skin cancer (in some patients); Breast cancer (rare); Cervical cancer (rare);
Prefixed ID : #614564;
Origin ID : 614564;
UMLS CUI : C3281203;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)