{"orpha":90324,"name":"Cockayne syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cockayne syndrome type III"],"definition":null,"note":"This disease is described under Cockayne syndrome","url":"https://raremap.alftech.space/d/ORPHA-90324/","orphanet_url":"https://www.orpha.net/en/disease/detail/90324","names":{"fr":{"name":"Syndrome de Cockayne type 3","synonyms":["Syndrome de Cockayne type III"]},"de":{"name":"Cockayne-Syndrom Typ 3","synonyms":["Cockayne-Syndrom Typ III"]},"es":{"name":"Síndrome de Cockayne tipo 3","synonyms":["Síndrome de Cockayne tipo III"]},"it":{"name":"Sindrome di Cockayne, tipo 3","synonyms":["Sindrome di Cockayne, tipo III"]},"nl":{"name":"Syndroom van Cockayne type 3","synonyms":["Syndroom van Cockayne type 3"]},"pt":{"name":"Cockayne syndrome type 3","synonyms":["Síndrome Cockayne tipo III"]},"pl":{"name":"Zespół Cockayne'a typu 3","synonyms":["Zespół Cockayne'a typu III"]},"cs":{"name":"Cockayneův syndrom, typ 3","synonyms":["Cockayneův syndrom, typ III"]},"uk":{"name":"Синдром Кокейна, тип 3","synonyms":["Синдром Кокейна, тип III"]},"zh":{"name":"科凯恩综合征3型","synonyms":["科凯恩综合征III型"]},"tr":{"name":"Cockayne sendromu tip 3","synonyms":["Cockayne sendromu tip III"]}},"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":"1401163130"},{"source":"MONDO","code":"0008998","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751037","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1417","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":"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":"2020-09-23","source":"25851792[PMID]_27507608[PMID]","terms":[{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002446","label":"Astrocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002461","label":"Dense calcifications in the cerebellar dentate nucleus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007346","label":"Subcortical white matter calcifications","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008615","label":"Adult onset sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005181","label":"Premature coronary artery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004934","label":"Vascular calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011359","label":"Dry hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032263","label":"Increased blood pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000460","label":"Narrow nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","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:0002216","label":"Premature graying of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","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:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011527","label":"Lentiglobus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100309","label":"Subdural hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null}]}}