{"orpha":313846,"name":"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313846/","orphanet_url":"https://www.orpha.net/en/disease/detail/313846","names":{"fr":{"name":"Télangiectasie cutanée familiale et syndrome de prédisposition au cancer oropharyngé","definition":"Syndrome familial rare avec prédisposition aux cancers, caractérisé par un développement précoce de la télangiectasie cutanée, de légères anomalies dentaires et unguéales, une alopécie parcellaire sur les zones cutanées affectées et un risque accru de cancer oropharyngé au cours de la vie. Des cas d'autres types de cancer ont également été rapportés."},"de":{"name":"Familiäre kutane Telangiektasie-Oropharyngealer Krebs-Prädispositionssyndrom"},"es":{"name":"Síndrome de telangiectasia cutánea familiar y predisposición al cáncer orofaríngeo","definition":"Es un síndrome de predisposición al cáncer hereditario y poco frecuente, caracterizado por un desarrollo temprano de telangiectasia cutánea, leves anomalías ungueales y dentales, alopecia parcheada en las áreas afectadas de la piel y riesgo incrementado, de por vida, de cáncer orofaríngeo. También se han descrito otros tipos de cáncer."},"it":{"name":"Telangectasia cutanea familiare e sindrome da predisposizione ai tumori orofaringei","definition":"La telangectasia cutanea familiare associata alla sindrome da predisposizione ai tumori orofaringei è una malattia ereditaria rara che predispone allo sviluppo di tumori. È caratterizzata da telangectasia cutanea ad esordio precoce, lievi anomalie dei denti e delle unghie, alopecia areata sulle zone della cute interessata e aumento del rischio di sviluppare i tumori orofaringei per tutto l'arco della vita. Può associarsi anche ad altri tipi di tumore."},"nl":{"name":"Familiale cutane teleangiëctasie en orofaryngeale kankerpredispositiesyndroom","definition":"Familiale cutane teleangiëctasie en orofaryngeale kankerpredispositiesyndroom is een zeldzaam, erfelijk kankerpredispositiesyndroom dat gekarakteriseerd wordt door vroege ontwikkeling van cutane teleangiëctasie, milde tand- en nagelanomalieën, onregelmatige alopecie aan de getroffen huid en een verhoogd levenslang risico op orofaryngeale kanker. Andere types van kanker werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de telangiectasia cutânea familiar e predisposição para cancro orofaríngeo"},"pl":{"name":"Rodzinna telangiektazja skórna i zespół predyspozycji do nowotworów ustno-gardłowych"},"cs":{"name":"Syndrom zahrnující familiární kožní teleangiektázie a predispozici k orofaryngeálním nádorům"},"uk":{"name":"Сімейна шкірна телеангіектазія та синдром схильності до раку ротоглотки","definition":"A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported."},"zh":{"name":"家族性皮肤毛细血管扩张症和癌综合征","definition":"家族性皮肤毛细血管扩张和口咽癌易感综合征是一种罕见的遗传性癌症易感综合征，其特征是早期进展的皮肤毛细血管扩张、轻微的牙齿和指甲异常、受影响皮肤区域的斑片状脱发以及口咽癌的患病风险增加。其它类型的癌症也有报道。"},"tr":{"name":"Ailesel kutanöz telenjiektazi ve orofaringeal kanser yatkınlık sendromu"}},"xrefs":[{"source":"OMIM","code":"614564","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C10.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B6A.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013806","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190630","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[{"symbol":"ATR","name":"ATR checkpoint kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22341969[PMID]","hgnc":"882","ensembl":"ENSG00000175054","omim":"601215","loci":["3q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"22341969[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}