{"orpha":1466,"name":"COFS syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cerebrooculofacioskeletal syndrome","Pena-Shokeir syndrome type 2"],"definition":"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1466/","orphanet_url":"https://www.orpha.net/en/disease/detail/1466","names":{"fr":{"name":"Syndrome COFS","synonyms":["Syndrome cérébro-oculo-facio-squelettique","Syndrome de Pena-Shokeir type 2"],"definition":"Le syndrome cérébro-oculo-facio-squelettique (COFS) est une affection génétique rare appartenant à la famille des maladies de la réparation de l'ADN et caractérisée par une atteinte neurosensorielle sévère."},"de":{"name":"COFS-Syndrom","synonyms":["Pena-Shokeir-Syndrom Typ 2","Zerebro-okulo-fazio-skelettales Syndrom"],"definition":"Das Zerebro-okulo-fazio-skeletale (COFS) Syndrom ist eine seltene genetische Krankheit aus der Gruppe der Krankheiten mit DNA-Reparatur-Defekten und gekennzeichnet durch schwere sensorische und neurale Symptomatik."},"es":{"name":"Síndrome COFS","synonyms":["Síndrome cerebro óculo facio esquelético","Síndrome de Pena-Shokeir tipo 2"],"definition":"El síndrome cerebro-óculo-facio-esquelético (COFS) es un trastorno genético raro, perteneciente a la familia de las enfermedades de la reparación del ADN y caracterizado por una afectación neurosensorial grave."},"it":{"name":"Sindrome COFS","synonyms":["Sindrome cerebro-oculo-facio-scheletrica","Sindrome di Pena-Shokeir, tipo 2"]},"nl":{"name":"COFS-syndroom","synonyms":["Cerebro-oculofacioskeletaal syndroom","Syndroom van Pena-Shokeir type 2"],"definition":"Cerebro-oculofacioskeletaal (COFS)-syndroom is een zeldzame genetische aandoening, die behoort tot een familie van aandoeningen van DNA-herstel, gekenmerkt door ernstige sensorineurale betrokkenheid."},"pt":{"name":"Síndrome COFS","synonyms":["Síndrome Pena-Shokeir tipo 2","Síndrome cerebro-óculo-facio-esquelético"],"definition":"A síndrome cérebro-óculo-fácio-esquelética (COFS) é uma doença genética rara, pertencente à família de doenças de reparação do ADN, caracterizada por um envolvimento neurossensorial grave."},"pl":{"name":"Zespół COFS","synonyms":["Zespół mózgowo-oczno-twarzowo-szkieletowy","Zespół Pena i Shokeira typu 2"]},"cs":{"name":"COFS syndrom","synonyms":["Cerebrookulofacioskeletální syndrom","Penův-Shokeirův syndrom, typ 2","Pena-Shokeirův syndrom, typ 2"]},"uk":{"name":"Синдром COFS","synonyms":["Цереброокулофаціально-скелетний синдром","Синдром Пена-Шокіра, тип 2"],"definition":"Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement."},"zh":{"name":"COFS综合征","synonyms":["脑眼面骨综合征"]},"tr":{"name":"COFS sendromu","synonyms":["Pena-Shokeir sendromu tip 2","Serebrookülofasiyoskeletal sendrom"]}},"xrefs":[{"source":"OMIM","code":"214150","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":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2067824754"},{"source":"MONDO","code":"0008926","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5399761","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1317,"name":"CAMFAK syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":191,"name":"Cockayne syndrome","classifications":[147,156,181,187,189,200,202]},{"orpha":98649,"name":"Dentocutaneous disease with cataract","classifications":[156,189]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"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":"17273966[PMID]","hgnc":"3433","ensembl":"ENSG00000012061","omim":"126380","loci":["19q13.32"]},{"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":"11443545[PMID]","hgnc":"3434","ensembl":"ENSG00000104884","omim":"126340","loci":["19q13.32"]},{"symbol":"ERCC5","name":"ERCC excision repair 5, endonuclease","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24700531[PMID]","hgnc":"3437","ensembl":"ENSG00000134899","omim":"133530","loci":["13q33.1"]},{"symbol":"ERCC6","name":"ERCC excision repair 6, chromatin remodeling factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301516[PMID]","hgnc":"3438","ensembl":"ENSG00000225830","omim":"609413","loci":["10q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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:0005105","label":"Abnormal nasal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}