{"orpha":90321,"name":"Cockayne syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cockayne syndrome type I"],"definition":null,"note":"This disease is described under Cockayne syndrome","url":"https://raremap.alftech.space/d/ORPHA-90321/","orphanet_url":"https://www.orpha.net/en/disease/detail/90321","names":{"fr":{"name":"Syndrome de Cockayne type 1","synonyms":["Syndrome de Cockayne type I"]},"de":{"name":"Cockayne-Syndrom Typ 1","synonyms":["Cockayne-Syndrom Typ I"]},"es":{"name":"Síndrome de Cockayne tipo 1","synonyms":["Síndrome de Cockayne tipo I"]},"it":{"name":"Sindrome di Cockayne, tipo 1","synonyms":["Sindrome di Cockayne, tipo I"]},"nl":{"name":"Syndroom van Cockayne type 1","synonyms":["Syndroom van Cockayne type I"]},"pt":{"name":"Síndrome Cockayne tipo 1","synonyms":["Síndrome Cockayne tipo I"]},"pl":{"name":"Zespół Cockayne'a typu 1","synonyms":["Zespół Cockayne'a typu I"]},"cs":{"name":"Cockayneův syndrom, typ 1","synonyms":["Cockayneův syndrom, typ I"]},"uk":{"name":"Синдром Кокейна, тип 1","synonyms":["Синдром Кокейна, тип I"]},"zh":{"name":"科凯恩综合征1型","synonyms":["科凯恩综合征I型"]},"tr":{"name":"Cockayne sendromu tip 1","synonyms":["Cockayne sendromu tip I"]}},"xrefs":[{"source":"OMIM","code":"133540","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"216400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1271368066"},{"source":"MONDO","code":"0019569","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751039","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1415","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":191,"name":"Cockayne syndrome","classifications":[147,156,181,187,189,200,202]}],"children":[],"genes":[{"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"]},{"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":"23623389[PMID]","hgnc":"3436","ensembl":"ENSG00000175595","omim":"133520","loci":["16p13.12"]},{"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":"20301516[PMID]","hgnc":"3439","ensembl":"ENSG00000049167","omim":"609412","loci":["5q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-18","source":"25851792[PMID]_30252254[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004463","label":"Absent brainstem auditory responses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent 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(29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006313","label":"Widely spaced primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very rare (<4-1%)","criteria":null}]}}