{"orpha":90322,"name":"Cockayne syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cockayne syndrome type II"],"definition":null,"note":"This disease is described under Cockayne syndrome","url":"https://raremap.alftech.space/d/ORPHA-90322/","orphanet_url":"https://www.orpha.net/en/disease/detail/90322","names":{"fr":{"name":"Syndrome de Cockayne type 2","synonyms":["Syndrome de Cockayne type II"]},"de":{"name":"Cockayne-Syndrom Typ 2","synonyms":["Cockayne-Syndrom Typ II"]},"es":{"name":"Síndrome de Cockayne tipo 2","synonyms":["Síndrome de Cockayne tipo II"]},"it":{"name":"Sindrome di Cockayne, tipo 2","synonyms":["Sindrome di Cockayne, tipo II"]},"nl":{"name":"Syndroom van Cockayne type 2","synonyms":["Syndroom van Cockayne type II"]},"pt":{"name":"Síndrome Cockayne tipo 2","synonyms":["Síndrome Cockayne tipo II"]},"pl":{"name":"Zespół Cockayne'a typu 2","synonyms":["Zespół Cockayne'a typu II"]},"cs":{"name":"Cockayneův syndrom, typ 2","synonyms":["Cockayneův syndrom, typ II"]},"uk":{"name":"Синдром Кокейна, тип 2","synonyms":["Синдром Кокейна, тип II"]},"zh":{"name":"科凯恩综合征2型","synonyms":["科凯恩综合征II型"]},"tr":{"name":"Cockayne sendromu tip 2","synonyms":["Cockayne sendromu tip II"]}},"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":"1604701958"},{"source":"MONDO","code":"0019570","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751038","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1420","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":"ERCC1","name":"ERCC excision repair 1, endonuclease non-catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23623389[PMID]","hgnc":"3433","ensembl":"ENSG00000012061","omim":"126380","loci":["19q13.32"]},{"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":"2020-09-21","source":"20301516[PMID]_30252254[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002545","label":"Patchy demyelination of subcortical white matter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007346","label":"Subcortical white matter calcifications","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000680","label":"Delayed eruption of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006334","label":"Hypoplasia of the primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (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:0100699","label":"Scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","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:0000505","label":"Visual impairment","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}]}}