{"orpha":488197,"name":"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488197/","orphanet_url":"https://www.orpha.net/en/disease/detail/488197","names":{"fr":{"name":"Syndrome familial de dystrophie rétinienne progressive-colobome-cataracte congénitale","definition":"Maladie rétinienne génétique rare caractérisée par un colobome bilatéral de l'iris, une dystrophie rétinienne progressive et une perte de vision marquée, avec ou sans cataracte congénitale. Des adhésions irido-lenticulaires, des marbrures éparses de l'épithélium pigmenté de la rétine et un léger astigmatisme hypermétropique peuvent être associés."},"de":{"name":"Familiäre progressive Netzhautdystrophie-Iriskolobom-kongenitale Katarakt-Syndrom","definition":"Eine seltene genetisch bedingte Netzhauterkrankung, die durch ein beidseitiges Iriskolobom, eine fortschreitende Netzhautdystrophie und einen ausgeprägten Sehverlust mit oder ohne angeborenen Katarakt gekennzeichnet ist. Iridolentikuläre Adhäsionen, vereinzelte Flecken auf den pigmentierten Epithelien der Netzhaut und ein leichter hypermetropischer Astigmatismus können ebenfalls auftreten."},"es":{"name":"Síndrome de distrofia retiniana progresiva-coloboma de iris-catarata congénita familiar","definition":"Es un trastorno genético de la retina poco frecuente caracterizado por coloboma de iris bilateral, distrofia progresiva de la retina y notable pérdida de visión, con o sin cataratas congénitas. Puede asociarse a adherencias iridolenticulares, moteado disperso en el epitelio pigmentado de la retina y astigmatismo hipermétrope leve."},"it":{"name":"Sindrome familiare distrofia retinica progressiva - coloboma dell'iride - cataratta congenita","definition":"Si tratta di una malattia genetica rara della retina, caratterizzata da coloboma dell'iride bilaterale, distrofia retinica progressiva e grave perdita della vista, con o senza cataratta congenita. Si può associare ad aderenze tra l'iride e il cristallino, screziature diffuse dell'epitelio pigmentato della retina e lieve astigmatismo ipermetropico."},"nl":{"name":"Familiale progressieve retinale dystrofie - iriscoloboom - congenitaal cataract-syndroom","definition":"Een zeldzame, genetische aandoening van retina, gekarakteriseerd door bilateraal coloboom van iris, progressieve retinadystrofie, en aanzienlijk verlies van gezichtsvermogen, met of zonder congenitaal cataract. Adhesie tussen iris en lens, verspreide vlekken op retinaal pigmentepitheel, en mild astigmatisme met hypermetropie kunnen geassocieerd zijn."},"pt":{"name":"Síndrome de distrofia retiniana progressiva familiar-coloboma da íris-catarata congénita"},"pl":{"name":"Zespół rodzinnej postępującej dystrofii siatkówki, kolobomy tęczówki i wrodzonej zaćmy"},"cs":{"name":"Syndrom zahrnující familiární progresivní dystrofii sítnice, kolobom duhovky a vrozenou kataraktu"},"uk":{"name":"Сімейний синдром прогресуючої дистрофії сітківки-колобоми райдужки-вродженої катаракти","definition":"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated."},"zh":{"name":"家族性进行性视网膜营养不良-虹膜裂-先天性白内障综合征","definition":"一种罕见的遗传性视网膜疾病，以双侧裂虹膜畸形、进行性视网膜营养不良和视力明显下降为特征，伴有或不伴有先天性白内障。虹膜粘连、散在的视网膜色素上皮斑纹和轻度的低度散光可能与此有关。"},"tr":{"name":"Ailesel ilerleyici retinal distrofi-iris kolobomu-doğumsal katarakt sendromu"}},"xrefs":[{"source":"OMIM","code":"616722","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA10.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567488","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]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"MIR204","name":"microRNA 204","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26056285[PMID]_26159420[PMID]","hgnc":"31582","ensembl":"ENSG00000207935","omim":"610942","loci":["9q21.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"26056285[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26056285[PMID]"}],"phenotypes":null}