{"orpha":162,"name":"Congenital cataract-anterior segment dysgenesis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital cataract-ASD syndrome","Congenital cataract-ASGD syndrome","Congenital cataract-ASMD syndrome","Congenital cataract-anterior segment mesenchymal dysgenesis syndrome"],"definition":"A rare genetic ophthalmic syndrome characterized by congenital progressive posterior cataract (usually bilateral) and anterior segment mesenchymal dysgenesis that can be associated with unilateral or bilateral glaucoma (either congenital or develop at a young age). Some patients may present only with cataracts. Microcornea (sometimes bilateral), corneal opacities including posterior embryotoxon, iris atrophy/iridocorneal adhesions and nystagmus are reported as additional clinical features in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-162/","orphanet_url":"https://www.orpha.net/en/disease/detail/162","names":{"fr":{"name":"Syndrome de cataracte congénitale-dysgénésie du segment antérieur","synonyms":["Syndrome de cataracte congénitale-dysgénésie mésenchymateuse du segment antérieur"],"definition":"Syndrome ophtalmique génétique rare caractérisé par une cataracte postérieure congénitale progressive (généralement bilatérale) et une dysgénésie mésenchymateuse du segment antérieur pouvant être associée à un glaucome unilatéral ou bilatéral (congénital ou se développant à un jeune âge). Certains patients peuvent présenter uniquement une cataracte. Une microcornée (parfois bilatérale), des opacités cornéennes, notamment un embryotoxon postérieur, une atrophie de l'iris/des adhérences irido-cornéennes et un nystagmus sont autant de caractéristiques cliniques supplémentaires rapportées chez certains patients."},"de":{"name":"Syndrom der kongenitalen Katarakt mit Dysgenesie des vorderen Augensegmentes","synonyms":["Kongenitale Katarakt mit mesenchymaler Dysgenesie des vorderen Augensegmentes"],"definition":"Ein seltenes ophthalmologisches Syndrom, das durch eine kongenitale progressive hintere Katarakt (in der Regel beidseitig) und eine mesenchymale Dysgenese des vorderen Segments gekennzeichnet ist und mit einem ein- oder beidseitigen Glaukom einhergehen kann (entweder kongenital oder in jungen Jahren entwickelt). Bei einigen Patienten kann auch nur ein Katarakt auftreten. Mikrokornea (manchmal beidseitig), Hornhauttrübungen, einschließlich posteriorem Embryotoxon, Irisatrophie/iridokorneale Adhäsionen und Nystagmus werden als zusätzliche klinische Merkmale bei einigen Patienten berichtet."},"es":{"name":"Síndrome congénito de catarata-disgenesia del segmento anterior","synonyms":["Síndrome congénito de catarata-disgenesia mesenquimatosa del segmento anterior"],"definition":"Es un síndrome oftálmico, de origen genético y poco frecuente, caracterizado por catarata posterior progresiva congénita (generalmente bilateral) y disgenesia mesenquimal del segmento anterior que puede asociarse con glaucoma uni- o bilateral (ya sea congénito o que se desarrolla a una edad temprana). Algunos pacientes pueden presentar cataratas únicamente. En algunos casos se han descrito, como características clínicas adicionales, microcornea (en ocasiones bilateral), opacidades corneales, incluyendo embriotoxón posterior, atrofia del iris/adherencias iridocorneales y nistagmo."},"it":{"name":"Sindrome cataratta congenita-disgenesia del segmento anteriore","synonyms":["Sindrome cataratta congenita-ASD","Sindrome cataratta congenita-ASGD","Sindrome cataratta congenita-ASMD","Sindrome cataratta congenita-disgenesia mesenchimale del segmento anteriore"]},"nl":{"name":"Congenitaal cataract - dysgenesie van voorste oogsegment-syndroom","synonyms":["Congenitaal cataract - ASD-syndroom","Congenitaal cataract - ASGD-syndroom","Congenitaal cataract - ASMD-syndroom","Congenitaal cataract - mesenchymale dysgenesie van voorste oogsegment-syndroom"],"definition":"Een zeldzaam genetisch oftalmologisch syndroom, gekenmerkt door congenitaal progressief posterieur cataract (meestal bilateraal) en mesenchymale dysgenesie van voorste oogsegment, mogelijk geassocieerd met unilateraal of bilateraal glaucoom (hetzij congenitaal, hetzij met ontwikkeling op jonge leeftijd). Sommige patiënten presenteren zich mogelijk met alleen cataract. Microcorie (soms bilateraal), hoornvliestroebeling inclusief embryotoxon posterior, irisatrofie/iridocorneale adhesies en nystagmus worden als bijkomende klinische kenmerken gerapporteerd bij sommige patiënten."},"pt":{"name":"Síndrome de catarata congénita-disgenésia do segmento anterior","synonyms":["Síndrome de catarata congénita-ASD","Síndrome de catarata congénita-ASGD","Síndrome de catarata congénita-ASMD","Síndrome de catarata congénita-disgenesia mesenquimal do segmento anterior"]},"pl":{"name":"Zaćma-jaskra","synonyms":["Zespół wrodzonej zaćmy i dysgenezji przedniego odcinka"]},"cs":{"name":"Syndrom zahrnující kataraktu a glaukom","synonyms":["Congenital cataract-ASD syndrome","Congenital cataract-ASGD syndrome","Congenital cataract-ASMD syndrome","Congenital cataract-anterior segment mesenchymal dysgenesis syndrome"]},"uk":{"name":"Синдром вродженої катаракти-дисгенезії переднього сегмента","synonyms":["Синдром вродженої катаракти - мезенхімального дисгенезу переднього сегмента","Синдром вродженої катаракти-ASD","Синдром вродженої катаракти - ASGD","Синдром вродженої катаракти-ASMD"],"definition":"Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years."},"zh":{"name":"青光眼-白内障综合征"},"tr":{"name":"Katarakt-glokom sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q12.0","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":"0015567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925037","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1160","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"PITX3","name":"paired like homeodomain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9620774[PMID]","hgnc":"9006","ensembl":"ENSG00000107859","omim":"602669","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15665340[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15665340[PMID]"}],"phenotypes":null}