{"orpha":178338,"name":"UV-sensitive syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178338/","orphanet_url":"https://www.orpha.net/en/disease/detail/178338","names":{"fr":{"name":"Syndrome de sensibilité aux UV","definition":"Photodermatose rare caractérisée par une photosensibilité cutanée et une légère dépigmentation, sans risque accru de développer des tumeurs cutanées. On peut également observer des télangiectasies sans autre signe clinique. La maladie se manifeste dans la petite enfance ou l'enfance, le mode de transmission est autosomique récessif."},"de":{"name":"UV-sensitives Syndrom","definition":"Eine seltene Photodermatose, die durch kutane Lichtempfindlichkeit und leichte Dyspigmentierung gekennzeichnet ist, ohne ein erhöhtes Risiko für die Entwicklung von Hauttumoren. Es kann auch eine Telangiektasie beobachtet werden, aber keine anderen klinischen Anomalien. Die Manifestationen treten im Säuglings- oder Kindesalter auf, der Vererbungsmodus ist autosomal-rezessiv."},"es":{"name":"Síndrome de sensibilidad a UV","definition":"Es una fotodermatosis poco frecuente caracterizada por fotosensibilidad cutánea y una ligera despigmentación, que no aumenta el riesgo de desarrollar tumores cutáneos. También se pueden observar telangiectasias, aunque no se describen otras anomalías clínicas. En los pacientes que la desarrollan durante la lactancia o en la infancia, la herencia es de tipo autosómico recesivo."},"it":{"name":"Sindrome da ipersensibilità agli UV","definition":"Si tratta di una fotodermatosi rara, caratterizzata da fotosensibilità cutanea e lieve depigmentazione. Non si associa a un aumento dei tumori cutanei. Può associarsi a telangectasia, in assenza di altre anomalie cliniche. La malattia esordisce nella prima infanzia o nell'infanzia. La trasmissione è autosomica recessiva."},"nl":{"name":"UV-sensitief syndroom","definition":"Een zeldzame fotodermatose, gekarakteriseerd door cutane lichtgevoeligheid en licht abnormale pigmentatie, zonder verhoogd risico op ontwikkeling van huidtumoren. Teleangiëctasie wordt mogelijk ook waargenomen, maar andere klinische anomalieen zijn niet aanwezig. Patiënten presenteren zich in de zuigelingentijd of kindertijd, en de manier van overerving is autosomaal recessief."},"pt":{"name":"Síndrome de sensibilidade aos UV"},"pl":{"name":"Zespół wrażliwości na promieniowanie UV"},"cs":{"name":"Syndrom citlivosti vůči UV záření"},"uk":{"name":"Синдром чутливості до ультрафіолету","definition":"A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive."},"zh":{"name":"紫外线敏感综合征","definition":"紫外线敏感综合征是一种罕见的以皮肤光敏性和轻微色素沉着为特征的光敏症，不增加皮肤瘤风险，部分患者可出现毛细血管扩张，但无其他临床异常，常发生于婴儿期或儿童期，多以常染色体隐性方式遗传。"},"tr":{"name":"UV-sensitif sendromu"}},"xrefs":[{"source":"OMIM","code":"600630","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614621","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614640","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EJ30.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563466","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833561","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183490,"name":"Genetic photodermatosis","classifications":[156]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]}],"children":[],"genes":[{"symbol":"ERCC6","name":"ERCC excision repair 6, chromatin remodeling factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15486090[PMID]","hgnc":"3438","ensembl":"ENSG00000225830","omim":"609413","loci":["10q11.23"]},{"symbol":"ERCC8","name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19329487[PMID]","hgnc":"3439","ensembl":"ENSG00000049167","omim":"609412","loci":["5q12.1"]},{"symbol":"UVSSA","name":"UV stimulated scaffold protein A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22466610[PMID]_22466611[PMID]_22466612[PMID]","hgnc":"29304","ensembl":"ENSG00000163945","omim":"614632","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"19329487[PMID]_7264357[PMID]_9777763[PMID]_22466610[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19329487[PMID]_7264357[PMID]_9777763[PMID]_22466610[PMID]"}],"phenotypes":null}