{"orpha":191,"name":"Cockayne syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-191/","orphanet_url":"https://www.orpha.net/en/disease/detail/191","names":{"fr":{"name":"Syndrome de Cockayne","definition":"Le syndrome de Cockayne (SC) est une maladie multisystémique caractérisée par un retard staturo-pondéral, une dysmorphie faciale, une photosensibilité, des troubles neurologiques progressifs et un déficit intellectuel."},"de":{"name":"Cockayne-Syndrom","definition":"Das Cockayne-Syndrom (CS) ist eine multisystemische Erkrankung mit Kleinwuchs, charakteristischem Gesicht, vorzeitiger Alterung, Photosensitivität, progredienten neurologischen Ausfällen und Intelligenzminderung."},"es":{"name":"Síndrome de Cockayne","definition":"El síndrome de Cockayne (SC) es una enfermedad multisistémica caracterizada por estatura baja, apariencia facial característica, envejecimiento prematuro, fotosensibilidad, disfunción neurológica progresiva y discapacidad intelectual."},"it":{"name":"Sindrome di Cockayne"},"nl":{"name":"Syndroom van Cockayne","definition":"Een multisystemische aandoening, gekarakteriseerd door kleine gestalte, kenmerkend uiterlijk van het aangezicht, premature veroudering, lichtgevoeligheid, progressieve neurologische disfunctie, en intellectuele achterstand."},"pt":{"name":"Síndrome Cockayne","definition":"A síndrome Cockayne (CS) é uma doença multissistémica caracterizada por baixa estatura, aparência facial característica, envelhecimento prematuro, fotossensibilidade, disfunção neurológica progressiva e défice intelectual."},"pl":{"name":"Zespół Cockayne","definition":"Zespół Cockayne’a (Cockayne syndrome – CS) to choroba wieloukładowa charakteryzująca się niskim wzrostem, charakterystycznym wyglądem twarzy, przedwczesnym starzeniem, wrażliwością na światło, postępującą dysfunkcją neurologiczną i niepełnosprawnością intelektualną."},"cs":{"name":"Cockayneův syndrom"},"uk":{"name":"Синдром Кокейна","definition":"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit."},"zh":{"name":"科凯恩综合征"},"tr":{"name":"Cockayne sendromu"}},"xrefs":[{"source":"OMIM","code":"133540","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"214150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"216400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"278780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610756","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610758","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616570","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1206275070"},{"source":"MONDO","code":"0016006","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003057","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0009207","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6122","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009835","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"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":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[{"orpha":1466,"name":"COFS syndrome","type":"Clinical subtype"},{"orpha":90321,"name":"Cockayne syndrome type 1","type":"Clinical subtype"},{"orpha":90322,"name":"Cockayne syndrome type 2","type":"Clinical subtype"},{"orpha":90324,"name":"Cockayne syndrome type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ERCC6","name":"ERCC excision repair 6, chromatin remodeling factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301516[PMID]","hgnc":"3438","ensembl":"ENSG00000225830","omim":"609413","loci":["10q11.23"],"via":{"orpha":90321,"name":"Cockayne syndrome type 1"}},{"symbol":"ERCC6","name":"ERCC excision repair 6, chromatin remodeling 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(<4-1%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}