{"orpha":220295,"name":"Xeroderma pigmentosum-Cockayne syndrome complex","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XP/CS complex"],"definition":"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220295/","orphanet_url":"https://www.orpha.net/en/disease/detail/220295","names":{"fr":{"name":"Complexe Xeroderma pigmentosum-syndrome de Cockayne","synonyms":["Complexe XP/CS"],"definition":"Le complexe xeroderma pigmentosum/syndrome de Cockayne (complexe XP/CS) est caractérisé par l'association des signes cutanés de xeroderma pigmentosum (XP) aux signes systémiques et neurologiques du syndrome de Cockayne (CS)."},"de":{"name":"Xeroderma pigmentosum/Cockayne-Syndrom-Komplex","synonyms":["XP/CS"],"definition":"Der Xeroderma pigmentosum/Cockayne-Syndrom-Komplex ist gekennzeichnet durch Hautsymptome des Xeroderma pigmentosum (XP; s. dort) zusammen mit den systemischen und neurologischen Merkmalen des Cockayne-Syndroms (CS; s. dort)."},"es":{"name":"Complejo xeroderma pigmentoso/síndrome de Cockayne","synonyms":["Complejo XP/CS"],"definition":"El complejo xeroderma pigmentoso/síndrome de Cockayne (complejo XP/CS) se caracteriza por la asociación de las manifestaciones cutáneas del xeroderma pigmentoso (XP) (consulte este término) con las características sistémicas y neurológicas del síndrome de Cockayne (CS; consulte este término)."},"it":{"name":"Complesso xeroderma pigmentoso-sindrome di Cockayne","synonyms":["Complesso XP/CS"],"definition":"Il complesso xeroderma pigmentoso/sindrome di Cockayne (complesso XP/CS) è caratterizzato dai segni cutanei dello xeroderma pigmentoso (XP; si veda questo termine) e dai segni sistemici e neurologici della sindrome di Cockayne (CS; si veda questo termine)."},"nl":{"name":"Xeroderma pigmentosum - syndroom van Cockayne-complex","synonyms":["XP/CS-complex"],"definition":"Xeroderma pigmentosum - syndroom van Cockayne-complex (XP/CS-complex) wordt gekarakteriseerd door de cutane kenmerken van xeroderma pigmentosum (XP; zie deze term) samen met de systemische en neurologische kenmerken van syndroom van Cockayne (CS; zie deze term)."},"pt":{"name":"Complexo xeroderma pigmentoso/síndrome Cockayne","definition":"O complexo sindromático xeroderma pigmentoso/síndrome Cockayne (complexo XP/CS) é caracterizado pela apresentação cutânea do xeroderma pigmentoso (XP) (ver este termo) juntamente com as características sistémicas e neurológicas da síndrome Cockayne (CS; ver este termo)."},"pl":{"name":"Kompleks skóra pergaminowa/zespół Cockayne'a","synonyms":["XP/CS kompleks"]},"cs":{"name":"Komplex zahrnující xeroderma pigmentosum a Cockayneův syndrom","synonyms":["XP/CS komplex"]},"uk":{"name":"Комплекс пігментна ксеродермія - синдром Коккена","synonyms":["Комплекс XP/CS"],"definition":"Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)."},"zh":{"name":"着色性干皮病-Cockayne综合征","synonyms":["着色性干皮病/Cockayne综合征"],"definition":"着色性干皮病/Cockayne综合征（XP/CS complex）的特点同时具有是着色性干皮病（XP；见该词条）的皮肤特征以及Cockayne综合征（CS；见该词条）的全身和神经特征。"},"tr":{"name":"Kseroderma pigmentosum-Cockayne sendrom kompleksi","synonyms":["XP/CS kompleksi"]}},"xrefs":[{"source":"OMIM","code":"278730","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":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2002862606"},{"source":"MONDO","code":"0016354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304411","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2837,"name":"Pellagra-like skin rash-neurological manifestations syndrome","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":79389,"name":"Premature aging","classifications":[156,187]},{"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":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":522530,"name":"Rare genetic disorder with entropion","classifications":[156]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"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]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"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":null,"terms":[{"hpo":"HP:0004337","label":"Abnormality of amino acid metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002634","label":"Arteriosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007587","label":"Numerous pigmented freckles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","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:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Frequent (79-30%)","criteria":null}]}}