{"orpha":910,"name":"Xeroderma pigmentosum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-910/","orphanet_url":"https://www.orpha.net/en/disease/detail/910","names":{"fr":{"name":"Xeroderma pigmentosum","definition":"Le <i>xeroderma pigmentosum</i> (XP) est une génodermatose rare caractérisée par une sensibilité extrême aux ultraviolets (UV) induisant des lésions cutanées et oculaires et des cancers cutanés multiples. Il est subdivisé en 8 groupes de complémentation selon le gène atteint: le XP classique (XP A à G) et le XP variant (XP-V;)."},"de":{"name":"Xeroderma pigmentosum","synonyms":["XP"],"definition":"Das Xeroderma pigmentosum (XP) ist eine seltene Genodermatose mit extrem erhöhtem Risiko für das Auftreten Ultraviolett (UV)- induzierter Veränderungen der Haut und der Augen und multipler Karzinome der Haut. Das XP wird in 8 Komplementationsgruppen mit unterschiedlichen beteiligten Genen unterteilt: XPA bis XPG und XP-Varianten (XPV)."},"es":{"name":"Xeroderma pigmentoso","definition":"El xeroderma pigmentoso (XP) es una rara genodermatosis caracterizada por una sensibilidad extrema a cambios inducidos por los rayos ultravioleta (UV) en la piel y los ojos, y múltiples cánceres de piel. Se subdivide en ocho grupos de complementación, de acuerdo con el gen afectado: del XPA al XPG, y XP de tipo variante (XPV) (ver estos términos)."},"it":{"name":"Xeroderma pigmentoso","synonyms":["XP"]},"nl":{"name":"Xeroderma pigmentosum","definition":"Xeroderma pigmentosum (XP) is een zeldzame genodermatose gekenmerkt door een extreme gevoeligheid voor door ultraviolet (UV) geïnduceerde veranderingen in de huid en de ogen, en multipele huidkankers. Het wordt onderverdeeld in 8 complementatiegroepen, naargelang het getroffen gen: XPA tot XPG, en XP-variant (XPV) (zie deze termen)."},"pt":{"name":"Xeroderma pigmentoso","definition":"A xerodermia pigmentosa (XP) é uma genodermatose rara, caracterizada por sensibilidade extrema à radiação ultravioleta (UV) induzida por alterações na pele e olhos, e múltiplos cancros da pele. Subdivide-se em 8 grupos de complementação, de acordo com o gene afetado: XPA a XPG, e XP variante (XPV) (ver estes termos)."},"pl":{"name":"Skóra pergaminowa","synonyms":["XP"]},"cs":{"name":"Xeroderma pigmentosum","synonyms":["XP"]},"uk":{"name":"Пігментна ксеродерма","definition":"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)."},"zh":{"name":"着色性干皮病"},"tr":{"name":"Kseroderma pigmentozum"}},"xrefs":[{"source":"OMIM","code":"278700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"278720","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"278730","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"278740","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"278760","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"278780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610651","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD27.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1243068849"},{"source":"MONDO","code":"0019600","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014983","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043346","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048220","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1569,"name":"De Sanctis-Cacchione syndrome","status":"inactive"},{"type":"Referred to","orpha":276249,"name":"OBSOLETE: Xeroderma pigmentosum complementation group A","status":"inactive"},{"type":"Referred to","orpha":276252,"name":"OBSOLETE: Xeroderma pigmentosum complementation group B","status":"inactive"},{"type":"Referred to","orpha":276255,"name":"OBSOLETE: Xeroderma pigmentosum complementation group C","status":"inactive"},{"type":"Referred to","orpha":276258,"name":"OBSOLETE: Xeroderma pigmentosum complementation group D","status":"inactive"},{"type":"Referred to","orpha":276261,"name":"OBSOLETE: Xeroderma pigmentosum complementation group E","status":"inactive"},{"type":"Referred to","orpha":276264,"name":"OBSOLETE: Xeroderma pigmentosum complementation group F","status":"inactive"},{"type":"Referred to","orpha":276267,"name":"OBSOLETE: Xeroderma pigmentosum complementation group G","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98097,"name":"Autosomal recessive cerebellar ataxia due to a DNA repair defect","classifications":[156,181]},{"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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98571,"name":"Secondary ectropion","classifications":[147,156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"DDB2","name":"damage specific DNA binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301571[PMID]","hgnc":"2718","ensembl":"ENSG00000134574","omim":"600811","loci":["11p11.2"]},{"symbol":"ERCC2","name":"ERCC excision repair 2, TFIIH core complex helicase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301571[PMID]","hgnc":"3434","ensembl":"ENSG00000104884","omim":"126340","loci":["19q13.32"]},{"symbol":"ERCC3","name":"ERCC excision repair 3, TFIIH core complex helicase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301571[PMID]","hgnc":"3435","ensembl":"ENSG00000163161","omim":"133510","loci":["2q14.3"]},{"symbol":"ERCC4","name":"ERCC excision repair 4, endonuclease catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301571[PMID]","hgnc":"3436","ensembl":"ENSG00000175595","omim":"133520","loci":["16p13.12"]},{"symbol":"ERCC5","name":"ERCC excision repair 5, endonuclease","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301571[PMID]","hgnc":"3437","ensembl":"ENSG00000134899","omim":"133530","loci":["13q33.1"]},{"symbol":"XPA","name":"XPA, DNA damage recognition and repair factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301571[PMID]","hgnc":"12814","ensembl":"ENSG00000136936","omim":"611153","loci":["9q22.33"]},{"symbol":"XPC","name":"XPC complex subunit, DNA damage recognition and repair factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301571[PMID]","hgnc":"12816","ensembl":"ENSG00000154767","omim":"613208","loci":["3p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"United States","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Japan","status":"Validated","source":"16905156[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Europe","status":"Not yet validated","source":"18329345[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"United Kingdom","status":"Validated","source":"18329345[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.41,"area":"Netherlands","status":"Validated","source":"18329345[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Italy","status":"Validated","source":"18329345[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"France","status":"Validated","source":"18329345[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"Germany","status":"Validated","source":"18329345[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.75,"area":"Libyan Arab Jamahiriya","status":"Not yet validated","source":"10440281[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000524","label":"Conjunctival telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006887","label":"Intellectual disability, progressive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000621","label":"Entropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010649","label":"Flat nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100012","label":"Neoplasm of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}