{"orpha":98978,"name":"Axenfeld anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98978/","orphanet_url":"https://www.orpha.net/en/disease/detail/98978","names":{"fr":{"name":"Anomalie d'Axenfeld","definition":"Anomalie oculaire congénitale rare causée par une dysgénésie du segment antérieur et caractérisée par une ligne de Schwalbe déplacée vers l'avant et des bandes iriennes s'étendant jusqu'à la cornée. En revanche, l'anomalie de Rieger se caractérise quant à elle par des anomalies de l'iris et de la pupille."},"de":{"name":"Axenfeld-Anomalie","definition":"Die Axenfeld-Anomalie ist ein seltener, durch Dysgenesie des vorderen Segmentes bedingter Augendefekt. Kennzeichnend sind die nach vorn verlagerte Schwalbe-Linie und in die Kornea sich ausdehnende Irisbänder. Dagegen ist die Rieger-Anomalie (s. dort) durch Anomalien der Iris und der Pupille gekennzeichnet."},"es":{"name":"Anomalía de Axenfeld","definition":"Es un defecto ocular congénito raro causado por una disgenesia del segmento anterior y se caracteriza por un desplazamiento anterior de la línea de Schwalbe y bandas en el iris que se extienden dentro de la córnea. En contraste, la anomalía de Rieger incluye anomalías características en iris y pupila."},"it":{"name":"Anomalia di Axenfeld","definition":"L'anomalia di Axenfeld è un difetto oculare congenito raro, causato dalla disgenesia del segmento anteriore, caratterizzato dalla dislocazione anteriore della linea di Schwalbe e da bande nell'iride, che si estendono nella cornea. L'anomalia di Rieger (si veda questo termine) si caratterizza invece per un'iride caratteristica associata ad anomalie della pupilla."},"nl":{"name":"Axenfeld-anomalie","definition":"Een zeldzaam, congenitaal defect van oog, veroorzaakt door dysgenesie van voorste oogsegment, en gekenmerkt door anterieure verplaatsing van lijn van Schwalbe en banden van iris die zich uitstrekken tot in cornea. Rieger-anomalie daarentegen omvat kenmerkende anomalieën van iris en pupil."},"pt":{"name":"Anomalia de Axenfeld"},"pl":{"name":"Anomalia Axenfelda"},"cs":{"name":"Axenfeldova anomálie"},"uk":{"name":"Аномалія Аксенфельда","definition":"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies."},"zh":{"name":"Axenfeld异常","definition":"该病是一种罕见的先天性眼部缺损，由眼前节发育不良引起，特征是Schwalbe线前移及虹膜带伸入角膜。相比之下，Rieger异常包括特征性的虹膜异常和瞳孔异常。"},"tr":{"name":"Axenfeld anomalisi"}},"xrefs":[{"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":"Q15.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA11.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1703498511"},{"source":"MONDO","code":"0020368","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266548","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058653","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":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}