{"orpha":519388,"name":"Autosomal recessive anterior segment dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519388/","orphanet_url":"https://www.orpha.net/en/disease/detail/519388","names":{"fr":{"name":"Dysgénésie du segment antérieur autosomique récessive","definition":"Anomalie du développement du segment antérieur de l'oeil sans manifestations extra-oculaires caractérisée principalement par des malformations de l'iris et du cristallin, notamment une hypoplasie de l'iris, une transillumination irienne, un ectropion uvéal, une corectopie, un iridodonésis avec ectopie du cristallin et une cataracte, l'atteinte étant bilatérale. Chez la plupart des patients, on n'observe pas d'augmentation de pression intraoculaire."},"de":{"name":"Autosomal-rezessive Dysgenesie des vorderen Augensegmentes","definition":"Eine seltene Entwicklungsanomalie des vorderen Augensegments ohne extraokulare Manifestationen, die durch vorherrschende Iris- und Linsenanomalien gekennzeichnet ist, einschließlich Iris-Hypoplasie, Iris-Transilluminationsdefekte, Ektropium uveae, Corektopie, Iridodonesis mit Ektopia lentis und Katarakt, mit bilateraler Beteiligung. Ein erhöhter Augeninnendruck ist bei den meisten Patienten nicht vorhanden."},"es":{"name":"Disgenesia del segmento anterior autosómica recesiva","definition":"Es una anomalía poco frecuente del desarrollo del segmento anterior sin manifestaciones extraoculares que se caracteriza por un predominio de anomalías del iris y del cristalino, incluyendo hipoplasia del iris, defectos de transiluminación del iris, ectropión úvea, corectopia, iridodonesis con ectopia lentis y cataratas, con afectación bilateral. En la mayoría de los pacientes no se produce un aumento de la presión intraocular."},"it":{"name":"Disgenesia del segmento anteriore dell'occhio autosomica recessiva","definition":"Si tratta di un'anomalia rara dello sviluppo del segmento anteriore dell'occhio, in assenza di sintomi extraoculari, caratterizzata prevalentemente da anomalie dell'iride e del cristallino (ipoplasia dell'iride, difetti della transilluminazione dell'iride, ectropion dell'uvea, corectopia, iridodonesi con ectopia del cristallino e cataratta, con interessamento bilaterale. La maggior parte dei pazienti non presenta un aumento della pressione intraoculare."},"nl":{"name":"Autosomaal recessieve dysgenesie van voorste oogsegment","definition":"Een zeldzame abnormale ontwikkeling van voorste oogsegment zonder extraoculaire manifestaties, gekarakteriseerd door anomalieen van hoofdzakelijk iris en lens, waaronder hypoplasie van iris, defecte transilluminatie van iris, ectropion uveae, corectopie, iridodonesis met ectopia lentis, en cataract, met bilaterale betrokkenheid. Verhoogde intraoculaire druk is afwezig bij de meeste patiënten."},"pt":{"name":"Disgenésia do segmento anterior autossómica recessiva"},"pl":{"name":"Autosomalna recesywna dysgenezja przedniego odcinka oka"},"cs":{"name":"Autozomálně recesivní dysgeneze předního segmentu"},"uk":{"name":"Аутосомно-рецесивна дисгенезія переднього сегмента","definition":"A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients."},"zh":{"name":"常染色体隐性前节发育不良"},"tr":{"name":"Otozomal resesif anterior segment disgenezi"}},"xrefs":[{"source":"OMIM","code":"617319","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015017","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310622","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"CPAMD8","name":"C3 and PZP like alpha-2-macroglobulin domain containing 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27839872[PMID]","hgnc":"23228","ensembl":"ENSG00000160111","omim":"608841","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"27839872[PMID]_29556725[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27839872[PMID]_29556725[PMID]"}],"phenotypes":null}