{"orpha":566,"name":"Congenital microcoria","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital miosis"],"definition":"Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566/","orphanet_url":"https://www.orpha.net/en/disease/detail/566","names":{"fr":{"name":"Microcorie congénitale","synonyms":["Myosis congénital"],"definition":"Maladie ophtalmique autosomique dominante rare, causée par une anomalie de développement du muscle dilatateur de la pupille. Elle s'exprime dès la naissance par un petit diamètre pupillaire (<2 mm), une hypopigmentation périphérique de l'iris et des défauts de transillumination entraînant des erreurs de réfraction (myopie, astigmatisme) et parfois un glaucome juvénile à angle ouvert."},"de":{"name":"Mikrokorie, kongenitale","synonyms":["Miosis, kongenitale"]},"es":{"name":"Microcoria congénita","synonyms":["Miosis congénita"],"definition":"Es una enfermedad oftalmológica poco frecuente de transmisión autosómica dominante por el mal desarrollo del músculo dilatador de la pupila. Está caracterizada por pupilas pequeñas desde el nacimiento (<2 mm de diámetro), hipopigmentación periférica del iris y defectos de transiluminación que conducen a errores de refracción (miopía, astigmatismo) y, en ocasiones, a glaucoma juvenil de ángulo abierto."},"it":{"name":"Microcoria congenita","synonyms":["Miosi congenita"],"definition":"La microcoria congenita è una malattia oculare rara autosomica dominate, causata da anomalie dello sviluppo del muscolo dilatatore della pupilla. È caratterizzata da pupille piccole (diametro <2 mm) alla nascita, ipopigmentazione periferica dell'iride e difetti della transilluminazione che causano errori di rifrazione (miopia, stigmatismo) e, talvolta, il glaucoma giovanile ad angolo aperto."},"nl":{"name":"Congenitale microcorie","synonyms":["Miosis, congenitaal"],"definition":"Congenitale microcorie is een zeldzame, autosomaal dominante, oftalmologische ziekte die veroorzaakt wordt door abnormale ontwikkeling van de pupilverwijder (musculus dilatator pupillae) en die gekarakteriseerd wordt door kleine pupillen (diameter <2 mm) vanaf de geboorte, hypopigmentatie van de perifere iris en defecten van de transilluminatie die leiden tot refractiefouten (myopie, astigmatisme) en soms juveniel open-hoek glaucoom."},"pt":{"name":"Microcoria congénita","synonyms":["Miose congénita"]},"pl":{"name":"Wrodzone zwężenie źrenicy","synonyms":["Mioza wrodzona"]},"cs":{"name":"Vrozená mikrokorie","synonyms":["Vrozená mióza"]},"uk":{"name":"Вроджена мікрокорія","synonyms":["Вроджений міоз"],"definition":"Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma."},"zh":{"name":"先天性小瞳症","synonyms":["先天性瞳孔缩小"]},"tr":{"name":"Doğumsal mikrokori","synonyms":["Doğumsal miyoz"]}},"xrefs":[{"source":"OMIM","code":"156600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA11.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"290409436"},{"source":"MONDO","code":"0007989","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537550","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1303009","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3635","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-17","source":"33922078[PMID]_21677884[PMID]","terms":[{"hpo":"HP:0007695","label":"Abnormal pupillary light reflex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007990","label":"Hypoplastic iris stroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012805","label":"Iris transillumination defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031730","label":"Axial myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012047","label":"Hemeralopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100018","label":"Nuclear cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012108","label":"Open angle glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012040","label":"Corneal stromal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null}]}}