{"orpha":1885,"name":"Isolated ectopia lentis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ectopia lentis syndrome","Familial ectopia lentis"],"definition":"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1885/","orphanet_url":"https://www.orpha.net/en/disease/detail/1885","names":{"fr":{"name":"Ectopie du cristallin familiale","synonyms":["Ectopie du cristallin isolée"],"definition":"L'ectopie du cristallin familiale (ECF) est une maladie oculaire rare et cliniquement variable, caractérisée par une luxation du cristallin qui provoque souvent une réduction significative de l'acuité visuelle."},"de":{"name":"Ectopia lentis, isolierte","synonyms":["Ectopia lentis, familiäre","Ectopia lentis-Syndrom"],"definition":"Die isolierte Ectopia lentis (IEL) ist eine seltene und klinisch unterschiedlich ausgeprägte Augenkrankheit mit Linsendislokation, die oft zu signifikanter Einschränkung der Sehkraft führt."},"es":{"name":"Ectopia del cristalino aislada","synonyms":["Ectopia del cristalino familiar","Ectopia lentis familiar","Síndrome de ectopia del cristalino"],"definition":"La ectopia lentis aislada (IEL) es un trastorno poco frecuente del ojo, clínicamente variable, caracterizado por la dislocación del cristalino, causando con frecuencia una significativa reducción de la agudeza visual."},"it":{"name":"Ectopia del cristallino isolata","synonyms":["Ectopia del cristallino familiare","Ectopia del cristallino sindromica"],"definition":"L'ectopia isolata del cristallino (IEL) è una rara malattia oculare variabile dal punto di vista clinico, con dislocazione del cristallino, che spesso comporta una significativa riduzione dell'acuità visiva."},"nl":{"name":"Geïsoleerde ectopia lentis","synonyms":["Ectopia lentis-syndroom","Familiale ectopia lentis"],"definition":"Geïsoleerde ectopia lentis (IEL) is een zeldzame, klinisch variabele oogaandoening die wordt gekarakteriseerd door een verschuiving van de lens, vaak met een aanzienlijke afname van de gezichtsscherpte tot gevolg."},"pt":{"name":"Ectopia lentis isolada"},"pl":{"name":"Izolowana ektopia soczewki","synonyms":["Rodzinna ektopia soczewki","Zespół ektopii soczewki"]},"cs":{"name":"Izolovaná dislokace čočky","synonyms":["Syndrom dislokace čočky","Familiární dislokace čočky"]},"uk":{"name":"Ізольована ектопія кришталика","synonyms":["Синдром червоподібного відростка","Сімейна ектопія кишок"],"definition":"Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity."},"zh":{"name":"孤立型晶状体异位","synonyms":["家族性晶体异位"]},"tr":{"name":"İzole ektopia lentis","synonyms":["Ektopya lentis sendromu","Ailesel ektopya lentis"]}},"xrefs":[{"source":"OMIM","code":"129600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"225100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"225200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA12.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"623082744"},{"source":"MONDO","code":"0015998","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004479","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851286","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12251","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014145","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98653,"name":"Lens position anomaly","classifications":[147,189]},{"orpha":522552,"name":"Lens position anomaly of genetic origin","classifications":[156]},{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]}],"children":[],"genes":[{"symbol":"ADAMTSL4","name":"ADAMTS like 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19706","ensembl":"ENSG00000143382","omim":"610113","loci":["1q21.2"]},{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":90.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009918","label":"Ectopia pupillae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}