{"orpha":90342,"name":"Xeroderma pigmentosum variant","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XPV"],"definition":"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90342/","orphanet_url":"https://www.orpha.net/en/disease/detail/90342","names":{"fr":{"name":"Variant du xeroderma pigmentosum","synonyms":["XPV"],"definition":"Le <i>xeroderma pigmentosum</i> variant (XP-V) est une forme variante atténuée de <i>xeroderma pigmentosum</i> (XP), une photodermatose génétique rare caractérisée par une sensibilité sévère au soleil et un risque accru de cancer de la peau."},"de":{"name":"Xeroderma pigmentosum Variante (XPV)","definition":"Die Xeroderma pigmentosum-Variante ist ein milder Untertyp des Xeroderma pigmentosum (XP; s. dort), einer seltenen Genodermatose mit schwerer Empfindlichkeit gegenüber Sonnenlicht und erhöhtem Risiko für Hautkarzinome. Es wird am häufigsten in den späten Teens oder den frühen 20ern diagnostiziert. Die Variante macht etwa 20% der XP-Fälle aus."},"es":{"name":"Xeroderma pigmentoso tipo variante","synonyms":["XPV"],"definition":"El xeroderma pigmentoso de tipo variante es el subtipo más leve de xeroderma pigmentoso (XP, consulte este término), una fotodermatosis rara caracterizada por sensibilidad severa al sol y un mayor riesgo de cáncer de piel. Con frecuencia se diagnostica en la adolescencia o durante en la segunda década de la vida."},"it":{"name":"Xeroderma pigmentoso variante (XPV)"},"nl":{"name":"Xeroderma pigmentosum, variante vorm","synonyms":["XPV"],"definition":"Xeroderma pigmentosum variant is een milder subtype van xeroderma pigmentosum (XP; zie deze term), een zeldzame fotodermatose gekenmerkt door ernstige gevoeligheid voor de zon en een verhoogd risico op huidkanker."},"pt":{"name":"Variante de xeroderma pigmentoso","synonyms":["XPV"],"definition":"A variante xeroderma pigmentoso é um subtipo mais ligeiro de xerodermia pigmentosa (XP, ver este termo), uma fotodermatose rara caracterizada por grave sensibilidade ao sol e um risco aumentado de cancro de pele."},"pl":{"name":"Wariant skóry pergaminowej","synonyms":["XPV"]},"cs":{"name":"Xeroderma pigmentosum - variant","synonyms":["XPV"]},"uk":{"name":"Варіант пігментної ксеродермії","synonyms":["XPV"],"definition":"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer."},"zh":{"name":"着色性干皮病变异型","synonyms":["XPV"]},"tr":{"name":"Kseroderma pigmentosum varyantı","synonyms":["XPV"]}},"xrefs":[{"source":"OMIM","code":"278750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"617001677"},{"source":"MONDO","code":"0010214","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848410","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5630","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":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":519270,"name":"Rare disorder with entropion","classifications":[147,189]},{"orpha":522530,"name":"Rare genetic disorder with entropion","classifications":[156]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]},{"orpha":98571,"name":"Secondary ectropion","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"POLH","name":"DNA polymerase eta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24130121[PMID]","hgnc":"9181","ensembl":"ENSG00000170734","omim":"603968","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"22044607[PMID]","terms":[{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007603","label":"Freckles in sun-exposed areas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Frequent (79-30%)","criteria":null}]}}