{"orpha":1571,"name":"Knobloch syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Knobloch-Layer syndrome","Retinal detachment-occipital encephalocele syndrome"],"definition":"A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1571/","orphanet_url":"https://www.orpha.net/en/disease/detail/1571","names":{"fr":{"name":"Syndrome de Knobloch","synonyms":["Syndrome de Knobloch-Layer","Syndrome de décollement de la rétine-encéphalocèle occipitale"],"definition":"Maladie systémique rare caractérisée par une dégénération vitrorétinienne et maculaire et un encéphalocèle occipital."},"de":{"name":"Knobloch-Syndrom","synonyms":["Knobloch-Layer-Syndrom","Netzhautablösung - okzipitale Enzephalozele"],"definition":"Eine seltene systemische Erkrankung, die durch vitreoretinale und makuläre Degeneration sowie eine okzipitale Enzephalozele gekennzeichnet ist."},"es":{"name":"Síndrome de Knobloch","synonyms":["Desprendimiento de retina encefalocele occipital"],"definition":"Es un trastorno sistémico poco frecuente caracterizado por degeneración vitreorretiniana y macular, así como encefalocele occipital."},"it":{"name":"Sindrome di Knobloch","synonyms":["Distacco della retina - encefalocele occipitale","Sindrome di Knobloch-Layer"],"definition":"La sindrome di Knobloch (SK) è una malattia sistemica rara, caratterizzata da degenerazione vitreo-retinica e maculare e da encefalocele occipitale."},"nl":{"name":"Syndroom van Knobloch","synonyms":["Netvliesloslating - occipitale encefalocele-syndroom","Syndroom van Knobloch-Layer"],"definition":"Een zeldzame, systemische aandoening, gekarakteriseerd door vitreoretinale en maculaire degeneratie, alsook occipitale encefalocele."},"pt":{"name":"Síndrome Knobloch","synonyms":["Descolamento da retina-encefalocelo occipital"],"definition":"A síndrome de Knobloch (KS) é definida pela degeneração vitreoretinal e macular, e encefalocelo ocipital."},"pl":{"name":"Zespół Knoblocha","synonyms":["Odwarstwienie siatkówki - encefalocele potyliczne","Zespół Knoblocha i Layera"]},"cs":{"name":"Knoblochův syndrom","synonyms":["Syndrom zahrnující odchlípení sítnice a okcipitální encefalokélu","Knoblochův-Layerův syndrom","Knobloch-Layerův syndrom"]},"uk":{"name":"Синдром Кноблоха","synonyms":["Синдром Кноблоха-Лайєра","Синдром відшарування сітківки та потиличного енцефалоцеле"],"definition":"A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele."},"zh":{"name":"Knobloch综合征","synonyms":["视网膜脱离-枕部脑膨出综合征"]},"tr":{"name":"Knobloch sendromu","synonyms":["Knobloch-Layer sendromu","Retina dekolmanı-oksipital ensefalosel sendromu"]}},"xrefs":[{"source":"OMIM","code":"267750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618458","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1664056510"},{"source":"MONDO","code":"800167","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537209","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849409","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"380","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]},{"orpha":716446,"name":"Rare disorder with progressive vitreoretinopathy disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PAK2","name":"p21 (RAC1) activated kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33693784[PMID]","hgnc":"8591","ensembl":"ENSG00000180370","omim":"605022","loci":["3q29"]},{"symbol":"COL18A1","name":"collagen type XVIII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21862674[PMID]_15714516[PMID]","hgnc":"2195","ensembl":"ENSG00000182871","omim":"120328","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":119.0,"area":"Worldwide","status":"Validated","source":"35693012[PMID]_36684549[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35693012[PMID]_36684549[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007773","label":"Vitreoretinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030037","label":"Bifid ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}