{"orpha":91481,"name":"Ring dermoid of cornea","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ring dermoid syndrome"],"definition":"Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the <i>PITX2</i> gene have been suggested as a potential cause of the condition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91481/","orphanet_url":"https://www.orpha.net/en/disease/detail/91481","names":{"fr":{"name":"Dermoïde annulaire limbique","definition":"Le dermoïde annulaire limbique est caractérisé par la présence de dermoïdes (excroissances tissulaires dont la structure rappelle celle de la peau) en forme d'anneau siégeant au niveau du limbe avec des extensions cornéennes et conjonctives. Moins de 30 cas ont été décrits. La transmission est autosomique dominante et des mutations du gène <I>PITX2</I> pourraient être responsables de cette pathologie."},"de":{"name":"Ringdermoid der Kornea","synonyms":["Ringdermoid-Syndrom"],"definition":"Das Ringdermoid der Kornea ist gekennzeichnet durch ringförmig randständige Dermoide (Gewebe mit hautähnlicher Struktur) mit Ausbreitung auf Kornea und Konjunktiven."},"es":{"name":"Dermoide anular de la córnea","synonyms":["Síndrome dermoide anular"],"definition":"Es un trastorno caracterizado por dermoides limbares anulares (crecimientos con una estructura similar a la piel) con extensión corneal y conjuntival. Se han descrito menos de 30 casos. La transmisión es autosómica dominante y se han sugerido mutaciones en el gen <i>PITX2</i> como posible patogenia de la afección."},"it":{"name":"Dermoide anulare della cornea","synonyms":["Sindrome del dermoide anulare"]},"nl":{"name":"Ringdermoïd van cornea","synonyms":["Ringdermoïd van hoornvlies","Ringdermoïd-syndroom"],"definition":"Ringdermoïd van cornea wordt gekenmerkt door ringvormige dermoïden (uitgroeisels met huidachtige structuur) ter hoogte van limbus corneae met extensie naar cornea en conjunctiva. Er werden minder dan 30 gevallen beschreven. Transmissie is autosomaal dominant, en mutaties in het gen <i>PITX2</i> werden voorgesteld als mogelijke oorzaak van de aandoening."},"pt":{"name":"Dermóide anelar da córnea"},"pl":{"name":"Pierścieniowa torbiel skórzasta rogówki","synonyms":["Ring dermoid syndrome"]},"cs":{"name":"Kruhový dermoid rohovky","synonyms":["Syndrom kruhového dermoidu"]},"uk":{"name":"Кільцевий дермоїд рогівки","synonyms":["Кільцеподібний дермоїдний синдром"],"definition":"Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the <i>PITX2</i> gene have been suggested as a potential cause of the condition."},"zh":{"name":"角膜环状皮样囊肿","synonyms":["环状皮样综合征"]},"tr":{"name":"Korneanın halka dermoidi","synonyms":["Halka dermoid sendromu"]}},"xrefs":[{"source":"OMIM","code":"180550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D31.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F36.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"271430543"},{"source":"MONDO","code":"0008387","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535684","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867155","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9696","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":183619,"name":"Genetic eye tumor","classifications":[156]},{"orpha":101950,"name":"Rare eye tumor","classifications":[189,202]}],"children":[],"genes":[{"symbol":"PITX2","name":"paired like homeodomain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15591271[PMID]","hgnc":"9005","ensembl":"ENSG00000164093","omim":"601542","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"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":null}