{"orpha":91483,"name":"Rieger anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91483/","orphanet_url":"https://www.orpha.net/en/disease/detail/91483","names":{"fr":{"name":"Anomalie de Rieger","synonyms":["Anomalie de Rieger-Axenfeld"],"definition":"Anomalie oculaire congénitale causée par une dysgénésie du segment antérieur qui se caractérise par une déformation sévère de la chambre antérieure avec des brins proéminents et une atrophie marquée du stroma de l'iris, la formation de trous ou de pseudo-trous et une corectopie. Le terme couvre l'association de ces anomalies de l'iris et de la pupille avec les caractéristiques de l'anomalie d'Axenfeld."},"de":{"name":"Rieger-Anomalie","synonyms":["Rieger-Axenfeld-Anomalie"],"definition":"Die Rieger-Anomalie ist ein angeborener, durch Dysgenesie des vorderen Segmentes bedingter Augendefekt und gekennzeichnet durch schwere Deformität der Vorderkammer mit auffälligen Strängen und ausgeprägter Atrophie des Irisstromas, mit Bildung von Löchern oder Pseudo-Löchern und Korektopie. Der Terminus umfasst die Assoziation von Anomalien der Iris- und Pupillenmerkmale der Axenfeld-Anomalie (s. dort)."},"es":{"name":"Anomalía de Rieger","synonyms":["Anomalía de Rieger-Axenfeld"],"definition":"La anomalía de Rieger es un defecto ocular congénito causado por una disgenesia del segmento anterior y se caracteriza por una deformidad grave de la cámara anterior con líneas prominentes y una marcada atrofia del estroma del iris, con formación de agujeros o pseudoagujeros y corectopia. El término incluye la asociación de estas anomalías del iris y la pupila con los rasgos característicos de la anomalía de Axenfeld (consulte este término)."},"it":{"name":"Anomalia di Rieger","synonyms":["Anomalia di Axenfeld-Rieger"],"definition":"L'anomalia di Rieger è un difetto oculare congenito causato dalla disgenesia del segmento anteriore e caratterizzato da deformità grave della camera anteriore con aspetto prominente e marcata atrofia dello stroma dell'iride, con formazione di buchi o pseudo-buchi e corectopia. Il termine definisce l'associazione tra queste anomalie dell'iride e della pupilla e le caratteristiche dell'anomalia di Axenfeld (si veda questo termine)."},"nl":{"name":"Rieger-anomalie","synonyms":["Afwijking van Rieger","Anomalie van Rieger"],"definition":"Een congenitaal defect van oog, veroorzaakt door dysgenesie van voorste oogsegment, en gekenmerkt door ernstige deformiteit van voorste oogkamer met prominente strengen en duidelijke atrofie van stroma van iris, met vorming van gaten of pseudogaten en corectopie. Rieger-anomalie omvat associatie van deze anomalieën van iris en pupil met de kenmerken van Axenfeld-anomalie."},"pt":{"name":"Anomalia de Rieger-Axenfeld"},"pl":{"name":"Zespół Riegera"},"cs":{"name":"Riegerova anomálie"},"uk":{"name":"Аномалія Рігера","definition":"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term)."},"zh":{"name":"Rieger综合征"},"tr":{"name":"Rieger anomalisi"}},"xrefs":[{"source":"OMIM","code":"137600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601631","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602482","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA11.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1338180594"},{"source":"MONDO","code":"0019628","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265341","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059198","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FOXC1","name":"forkhead box C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9620769[PMID]_11170889[PMID]","hgnc":"3800","ensembl":"ENSG00000054598","omim":"601090","loci":["6p25.3"]},{"symbol":"PITX2","name":"paired like homeodomain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19513095[PMID]_24433355[PMID]","hgnc":"9005","ensembl":"ENSG00000164093","omim":"601542","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}