{"orpha":247794,"name":"Juvenile cataract-microcornea-renal glucosuria syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Juvenile cataract-microcornea-renal glycosuria syndrome"],"definition":"A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247794/","orphanet_url":"https://www.orpha.net/en/disease/detail/247794","names":{"fr":{"name":"Syndrome de cataracte juvénile-microcornée-glucosurie rénale","synonyms":["Syndrome de cataracte juvénile-microcornée-glycosurie rénale"],"definition":"Association autosomique dominante rare caractérisée sur le plan clinique par une cataracte juvénile associée à une microcornée bilatérale et une glycosurie rénale sans autres anomalies tubulaires rénales."},"de":{"name":"Juvenile Katarakt-Mikrokornea-renale Glukosurie-Syndrom","definition":"Juvenile Katarakt - Mikrokornea - renale Glukosurie ist eine extrem seltene, autosomal-dominant vererbte Assoziation, die bisher nur in einer einzigen schweizerischen Familie beschrieben wurde. Sie ist klinisch gekennzeichnet durch juvenile Katarakt mit beidseitiger Mikrokornea und renaler Glukosurie ohne zusätzliche renale tubuläre Defekte."},"es":{"name":"Síndrome de catarata juvenil-microcórnea-glucosuria renal","synonyms":["Síndrome de catarata juvenil-microcórnea-glicosuria renal"],"definition":"La asociación catarata juvenil - microcórnea - glucosuria renal es una asociación autosómica dominante extremadamente poco frecuente descrita en una sola familia suiza, que se caracteriza clínicamente por catarata juvenil asociada con microcórnea bilateral y glucosuria renal sin otros defectos tubulares renales."},"it":{"name":"Cataratta giovanile - microcornea - glicosuria renale","definition":"La cataratta giovanile - microcornea - glicosuria renale è un'associazione estremamente rara, a trasmissione autosomica dominante, descritta in una sola famiglia svizzera, caratterizzata da cataratta giovanile associata a microcornea bilaterale e glicosuria renale, in assenza di altri difetti tubulari renali."},"nl":{"name":"Juveniel cataract - microcornea - renale glucosurie-syndroom","synonyms":["Juveniel cataract - microcornea - renale glycosurie-syndroom"],"definition":"Een uiterst zeldzame autosomaal dominante associatie, gerapporteerd bij één Zwitserse familie, en klinisch gekenmerkt door juveniel cataract geassocieerd met bilaterale microcornea, en renale glucosurie zonder andere defecten van niertubuli."},"pt":{"name":"Síndrome de catarata juvenil-microcórnea-glicosúria renal"},"pl":{"name":"Zaćma młodzieńcza - mała rogówka - cukromocz nerkowy","synonyms":["Juvenile cataract-microcornea-renal glycosuria syndrome"]},"cs":{"name":"Syndrom zahrnující juvenilní katarakta, mikrokornea a renální glykosurii","synonyms":["Juvenile cataract-microcornea-renal glycosuria syndrome"]},"uk":{"name":"Синдром ювенільної катаракти-мікророгівки-ниркової глюкозурії","synonyms":["Синдром ювенільної катаракти-мікророгівки-ниркової глікозурії"],"definition":"A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects."},"zh":{"name":"青少年性白内障合并小角膜-肾性糖尿综合征","synonyms":["青少年性白内障合并小角膜-肾性糖尿综合征"],"definition":"青少年白内障-小角膜-肾性糖尿症是一种罕见的常染色体显性遗传病，在一个瑞士家族中被报道，临床表现为青少年白内障伴双侧小角膜，肾性糖尿症，不伴其他肾小管缺陷。"},"tr":{"name":"Juvenil katarakt-mikrokornea-renal glukozüri sendromu","synonyms":["jüvenil katarakt-mikrokornea-renal glikozüri sendromu"]}},"xrefs":[{"source":"OMIM","code":"612018","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H26.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B10.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302529","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309001,"name":"Disorder of carbohydrate absorption and transport","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"SLC16A12","name":"solute carrier family 16 member 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18304496[PMID]","hgnc":"23094","ensembl":"ENSG00000152779","omim":"611910","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"18304496[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18304496[PMID]"}],"phenotypes":null}