{"orpha":891,"name":"Familial exudative vitreoretinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Criswick-Schepens syndrome","FEVR"],"definition":"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-891/","orphanet_url":"https://www.orpha.net/en/disease/detail/891","names":{"fr":{"name":"Vitréorétinopathie exsudative familiale","synonyms":["FEVR","Syndrome de Criswick-Schepens"],"definition":"La vitréorétinopathie exsudative familiale (FEVR) est un trouble vitrorétinien héréditaire rare caractérisé par une vascularisation anormale ou incomplète de la rétine périphérique. Les manifestations cliniques sont variables, allant d'une condition asymptomatique à la présentation d'anomalies mineures, ou même au décollement de la rétine avec cécité."},"de":{"name":"Retinopathie, exsudative familiäre","synonyms":["Criswick-Schepens-Syndrom","FEVR"]},"es":{"name":"Vitreorretinopatía exudativa familiar","synonyms":["FEVR","Síndrome de Criswick-Schepens"],"definition":"Es un trastorno vitreorretiniano hereditario poco frecuente caracterizado por una vascularización anómala o incompleta de la retina periférica que conduce a manifestaciones clínicas variables que van desde ausencia de efectos hasta anomalías menores, o incluso desprendimiento de retina con ceguera."},"it":{"name":"Vitreoretinopatia essudativa familiare","synonyms":["FEVR","Sindrome di Criswick-Schepens"]},"nl":{"name":"Familiale exsudatieve vitreoretinopathie","synonyms":["FEVR","Syndroom van Criswick-Schepens"],"definition":"Familiale exsudatieve vitreoretinopathie (FEVR) is een zeldzame erfelijke vitreoretinale aandoening die wordt gekarakteriseerd door abnormale of onvolledige vascularisatie van het perifere netvlies en leidt tot variabele klinische manifestaties gaande van geen effect tot kleine afwijkingen, of zelfs netvliesloslating met blindheid."},"pt":{"name":"Vitreorretinopatia exsudativa familiar","synonyms":["FEVR","Síndrome Criswick-Schepens"]},"pl":{"name":"Rodzinna wysiękowa witreoretinopatia","synonyms":["FEVR","Zespół Criswicka i Schepensa"]},"cs":{"name":"Familiární exsudativní vitreoretinopatie","synonyms":["FEVR","Criswickův-Schepensův syndrom","Criswick-Schepensův syndrom"]},"uk":{"name":"Сімейна ексудативна вітреоретинопатія","synonyms":["Синдром Крисвіка-Шепенса","FEVR"],"definition":"Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness."},"zh":{"name":"家族性渗出性玻璃体视网膜病变","synonyms":["Criswick-Schepens综合症"]},"tr":{"name":"ailesel eksudatif vitreoretinopati","synonyms":["FEVR","Criswick-Schepens sendromu"]}},"xrefs":[{"source":"OMIM","code":"133780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601813","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616468","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617572","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA13.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1344358838"},{"source":"MONDO","code":"19516","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000080345","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339539","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1613","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":183503,"name":"Genetic central nervous system and retinal vascular disease","classifications":[156]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":717345,"name":"Rare genetic isolated progressive retinal vasculopathy","classifications":[156]},{"orpha":716466,"name":"Rare isolated progressive retinal vasculopathy","classifications":[189]},{"orpha":716441,"name":"Rare isolated progressive vitreoretinopathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28575650[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]},{"symbol":"FZD4","name":"frizzled class receptor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301326[PMID]","hgnc":"4042","ensembl":"ENSG00000174804","omim":"604579","loci":["11q14.2"]},{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301326[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]},{"symbol":"NDP","name":"norrin cystine knot growth factor NDP","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301506[PMID]","hgnc":"7678","ensembl":"ENSG00000124479","omim":"300658","loci":["Xp11.3"]},{"symbol":"TSPAN12","name":"tetraspanin 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301326[PMID]","hgnc":"21641","ensembl":"ENSG00000106025","omim":"613138","loci":["7q31.31"]},{"symbol":"ZNF408","name":"zinc finger protein 408","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23716659[PMID]","hgnc":"20041","ensembl":"ENSG00000175213","omim":"616454","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-31","source":"32039639[PMID]_29633588[PMID]_32730767[PMID]","terms":[{"hpo":"HP:0007773","label":"Vitreoretinopathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007685","label":"Peripheral retinal avascularization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012795","label":"Abnormality of the optic disc","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001493","label":"Falciform retinal fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030666","label":"Retinal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031526","label":"Subretinal fluid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007917","label":"Tractional retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040049","label":"Macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030496","label":"Macular exudate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030503","label":"Macular telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012230","label":"Rhegmatogenous retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}