{"orpha":1377,"name":"Cataract-microcornea syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1377/","orphanet_url":"https://www.orpha.net/en/disease/detail/1377","names":{"fr":{"name":"Syndrome de cataracte-microcornée","definition":"Le syndrome de cataracte-microcornée est caractérisé par l'association d'une cataracte congénitale et d'une microcornée sans aucune autre anomalie systémique et sans dysmorphie."},"de":{"name":"Katarakt-Mikrokornea-Syndrom","definition":"Eine seltene Form der genetischen Katarakt, die durch eine Kombination von kongenitaler Katarakt und Mikrokornea ohne andere systemische Anomalien oder Dysmorphien gekennzeichnet ist. Die klinischen Befunde umfassen einen reduzierten Hornhautdurchmesser (weniger als 10 mm) in beiden Meridianen bei ansonsten normalem Auge und eine vererbte Katarakt, die meist beidseitig posterior polar mit einer Trübung der Linsenperipherie auftritt und sich nach Erreichen der Sehreife zu einer totalen Katarakt entwickelt. Ein Zusammenhang mit anderen okulären Manifestationen, einschließlich Myopie, Iriskolobom, Sklerokornea und Peters'scher Anomalie, kann beobachtet werden."},"es":{"name":"Síndrome de catarata-microcórnea","definition":"Es una catarata sindrómica de origen genético y poco común caracterizada por la asociación de catarata congénita y microcórnea sin ninguna otra anomalía o dismorfia sistémicas. Los hallazgos clínicos incluyen una disminución del diámetro corneal (inferior a 10 mm) en ambos meridianos en un ojo por lo demás normal, y una catarata hereditaria, que es principalmente polar posterior, bilateral, con opacificación en la periferia del cristalino que progresa hasta formar una catarata total una vez alcanzada la madurez visual. Puede asociar otras manifestaciones oculares, como miopía, coloboma del iris, esclerocórnea y anomalía de Peters."},"it":{"name":"Sindrome cataratta-microcornea"},"nl":{"name":"Cataract - microcornea-syndroom","definition":"Een zeldzaam syndromaal, genetisch cataract, gekenmerkt door de associatie van congenitaal cataract en microcornea, zonder enige andere systemische anomalie of dysmorfie. Klinische bevindingen zijn onder meer een kleinere diameter van cornea (kleiner dan 10 mm) in beide meridianen in een voor het overige normaal oog, en een erfelijk cataract, meestal bilateraal en aan de posterieure pool, met troebeling in de periferie van de lens en met progressie naar een totaal cataract nadat de visuele maturatie voltooid is. Associatie met andere oculaire manifestaties, waaronder myopie, iriscoloboom, sclerocornea en Peters-anomalie, kan mogelijk waargenomen worden."},"pt":{"name":"Síndrome de catarata-microcórnea","definition":"Catarata genética sindrómica rara, caracterizada pela associação de catarata congénita e microcórnea, sem qualquer outra anomalia sistémica ou dismorfismo. Os achados clínicos incluem diminuição do diâmetro da córnea (inferior a 10 mm) em ambos os meridianos, num olho normal, e catarata hereditária, predominantemente polar posterior bilateral com opacificação na periferia do cristalino, que progride para formar catarata total após a maturidade visual. Pode observar-se uma associação com outras manifestações oculares, incluindo miopia, coloboma da íris, esclerocórnea e anomalia Peters."},"pl":{"name":"Zaćma - zespół małej rogówki","definition":"Rzadka, genetycznie uwarunkowana zaćma syndromiczna charakteryzująca się połączeniem zaćmy wrodzonej i małej rogówki, bez innych anomalii ogólnoustrojowych lub dysmorfii. Objawy kliniczne obejmują zmniejszoną średnicę rogówki (poniżej 10 mm) w obu meridianach w skądinąd prawidłowym oku oraz dziedziczną zaćmę, która jest przeważnie obustronna, obejmuje tylne bieguny, ze zmętnieniem na obwodzie soczewki, które postępuje do zaćmy całkowitej po osiągnięciu dojrzałości wzrokowej. Można być powiązana z innymi objawami ocznymi, takimi jak krótkowzroczność, szczeliną tęczówki, zrośnięcie twardówki z rogówką (sclerocornea) oraz anomalia Petersa."},"cs":{"name":"Syndrom zahrnující kataraktu a mikrokorneu"},"uk":{"name":"Синдром катаракти - мікророгівки","definition":"A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed."},"zh":{"name":"白内障-小角膜综合征"},"tr":{"name":"Katarakt-mikrokornea sendromu"}},"xrefs":[{"source":"OMIM","code":"115700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"116200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601547","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604219","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015300","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538287","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861829","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1155","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"CRYAA","name":"crystallin alpha A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21686328[PMID]_21612679[PMID]_17724170[PMID]","hgnc":"2388","ensembl":"ENSG00000160202","omim":"123580","loci":["21q22.3"]},{"symbol":"CRYBA4","name":"crystallin beta A4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20577656[PMID]","hgnc":"2396","ensembl":"ENSG00000196431","omim":"123631","loci":["22q12.1"]},{"symbol":"CRYBB1","name":"crystallin beta B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16110300[PMID]_21972112[PMID]","hgnc":"2397","ensembl":"ENSG00000100122","omim":"600929","loci":["22q12.1"]},{"symbol":"CRYBB2","name":"crystallin beta B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21402992[PMID]","hgnc":"2398","ensembl":"ENSG00000244752","omim":"123620","loci":["22q11.23"]},{"symbol":"CRYGC","name":"crystallin gamma C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22876111[PMID]_19204787[PMID]","hgnc":"2410","ensembl":"ENSG00000163254","omim":"123680","loci":["2q33.3"]},{"symbol":"CRYGD","name":"crystallin gamma D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17724170[PMID]","hgnc":"2411","ensembl":"ENSG00000118231","omim":"123690","loci":["2q33.3"]},{"symbol":"GJA8","name":"gap junction protein alpha 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20806042[PMID]_17724170[PMID]","hgnc":"4281","ensembl":"ENSG00000121634","omim":"600897","loci":["1q21.2"]},{"symbol":"MAF","name":"MAF bZIP transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17982426[PMID]","hgnc":"6776","ensembl":"ENSG00000178573","omim":"177075","loci":["16q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25406294[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}