{"orpha":91492,"name":"Early onset non-syndromic cataract","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91492/","orphanet_url":"https://www.orpha.net/en/disease/detail/91492","names":{"fr":{"name":"Cataracte précoce non syndromique","definition":"La cataracte non syndromique précoce est une anomalie génétique rare du développement, non syndromique, survenant au cours de l'embryogenèse. Elle possède une forte hétérogénéité clinique et génétique, et se caractérise le plus souvent par des cataractes bilatérales, symétriques, non progressives survenant à la naissance ou tôt pendant l'enfance. Des manifestations oculaires additionnelles peuvent être associées (dysgénésie du segment antérieur, colobomes, nystagmus, microcornée, microphtalmie, myopie). Cependant, les autres organes/systèmes ne sont généralement pas affectés."},"de":{"name":"Katarakt, nicht-syndromale, kongenitale","definition":"Eine seltene, genetische, nicht-syndromale Entwicklungsstörung des Auges mit hoher klinischer und genetischer Heterogenität, die am häufigsten durch bilaterale, symmetrische, nicht-progressive Katarakte gekennzeichnet ist, die bei der Geburt oder im frühen Kindesalter auftreten. Weitere okuläre Manifestationen (z. B. Dysgenesie des vorderen Segments, Kolobome, Nystagmus, Mikrokorne, Mikrophthalmie, Myopie) können assoziiert sein, andere Organe/Systeme sind jedoch in der Regel nicht betroffen."},"es":{"name":"Catarata no sindrómica de inicio precoz","definition":"Es un trastorno genético no-sindrómico del desarrollo ocular, poco frecuente, con una gran heterogeneidad clínica y genética, más frecuentemente caracterizada por cataratas bilaterales, simétricas y no-progresivas presentes al nacimiento o en la infancia temprana. Puede estar asociada a otras manifestaciones oculares adicionales (por ejemplo, disgenesia del segmento anterior, colobomas, nistagmo, microcórnea, microftalmia, miopía); sin embargo, por lo general, no hay afectación de otros órganos/sistemas."},"it":{"name":"Cataratta non sindromica a esordio precoce","definition":"La cataratta non sindromica ad esordio precoce è un difetto genetico raro non sindromico dello sviluppo dell'occhio, molto eterogeneo dal punto di vista clinico e genetico. È per lo più caratterizzata da cataratta bilaterale, simmetrica e non progressiva, ad esordio alla nascita o nella prima infanzia. Altri segni oculari sono la disgenesia del segmento anteriore, il coloboma, il nistagmo, la microcornea, la microftalmia e la miopia. Di solito gli altri organi/sistemi non sono interessati."},"nl":{"name":"Niet-syndromaal cataract met vroege aanvang","definition":"Een zeldzaam, genetisch, niet-syndromaal ontwikkelingsdefect van oog met een hoge klinische en genetische heterogeniteit, in de meeste gevallen gekarakteriseerd door bilaterale, symmetrische, niet-progressieve cataracten die zich presenteren bij de geboorte of in de vroege kindertijd. Bijkomende oculaire manifestaties (e.g. dysgenesie van voorste oogsegment, coloboom, nystagmus, microcornea, microftalmie, myopie) kunnen geassocieerd zijn, maar andere organen/systemen worden meestal niet getroffen."},"pt":{"name":"Catarata não-sindromática de início precoce","synonyms":["Catarata congénita não-sindromática"]},"pl":{"name":"Niesyndromiczna zaćma o wczesnym początku"},"cs":{"name":"Časná nesyndromová katarakta"},"uk":{"name":"Рання несиндромальна катаракта","definition":"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected."},"zh":{"name":"早发性非综合征性白内障","definition":"一种罕见的遗传性非综合征性眼发育缺陷，具有高度的临床和遗传异质性，最常见的特征是出生时或儿童早期出现双侧、对称性、非进行性白内障。其他眼部表现（如眼前节发育不全、眼缺损、眼球震颤、小角膜、小眼症、近视）可能与此病相关，但除此之外其他器官/系统通常不受影响。"},"tr":{"name":"Erken başlangıçlı sendromik olmayan katarakt"}},"xrefs":[{"source":"OMIM","code":"115650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"115660","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"115665","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"115700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"115800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"115900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"212500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"302200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600881","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601202","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601547","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601885","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604219","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604307","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605387","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605728","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605749","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607304","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609376","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609741","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610019","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610202","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610425","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610623","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611391","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611544","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611597","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613763","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614422","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614691","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615188","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615274","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615277","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616279","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616509","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616851","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA12.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1080602978"},{"source":"MONDO","code":"0011060","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98983,"name":"OBSOLETE: Congenital cataract, Volkmann type","status":"inactive"},{"type":"Referred to","orpha":98987,"name":"OBSOLETE: Cataract, Hutterite type","status":"inactive"},{"type":"Referred to","orpha":217049,"name":"OBSOLETE: Rare non-syndromic cataract","status":"inactive"},{"type":"Referred to","orpha":217052,"name":"OBSOLETE: Infantile non-syndromic cataract","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":98640,"name":"Rare disorder with lens opacification","classifications":[189]},{"orpha":522546,"name":"Rare genetic disorder with lens opacification","classifications":[156]}],"children":[{"orpha":98992,"name":"Early-onset partial cataract","type":"Clinical subtype"},{"orpha":98994,"name":"Total early-onset cataract","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"NHS","name":"NHS actin remodeling regulator","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7820","ensembl":"ENSG00000188158","omim":"300457","loci":["Xp22.2-p22.13"],"via":{"orpha":98994,"name":"Total early-onset cataract"}},{"symbol":"DNMBP","name":"dynamin binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30290152[PMID]","hgnc":"30373","ensembl":"ENSG00000107554","omim":"611282","loci":["10q24.2"],"via":{"orpha":98994,"name":"Total early-onset cataract"}},{"symbol":"AGK","name":"acylglycerol kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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envelope protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26788539[PMID]","hgnc":"21244","ensembl":"ENSG00000161904","omim":"616312","loci":["6p21.31"],"via":{"orpha":98994,"name":"Total early-onset cataract"}},{"symbol":"LIM2","name":"lens intrinsic membrane protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18596884[PMID]","hgnc":"6610","ensembl":"ENSG00000105370","omim":"154045","loci":["19q13.41"],"via":{"orpha":98994,"name":"Total early-onset cataract"}},{"symbol":"LSS","name":"lanosterol synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"262003412[PMID]","hgnc":"6708","ensembl":"ENSG00000160285","omim":"600909","loci":["21q22.3"],"via":{"orpha":98994,"name":"Total early-onset cataract"}},{"symbol":"MIP","name":"major intrinsic protein of lens fiber","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17893667[PMID]","hgnc":"7103","ensembl":"ENSG00000135517","omim":"154050","loci":["12q13.3"],"via":{"orpha":98994,"name":"Total early-onset cataract"}},{"symbol":"PGRMC1","name":"progesterone receptor membrane component 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33867527[PMID]","hgnc":"16090","ensembl":"ENSG00000101856","omim":"300435","loci":["Xq24"],"via":{"orpha":98994,"name":"Total early-onset cataract"}},{"symbol":"SIPA1L3","name":"signal induced proliferation associated 1 like 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25804400[PMID]","hgnc":"23801","ensembl":"ENSG00000105738","omim":"616655","loci":["19q13.13-q13.2"],"via":{"orpha":98994,"name":"Total early-onset cataract"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}