{"orpha":35737,"name":"Morning glory disc anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Ectasic coloboma","Morning glory syndrome"],"definition":"A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35737/","orphanet_url":"https://www.orpha.net/en/disease/detail/35737","names":{"fr":{"name":"Anomalie papillaire morning glory","synonyms":["Colobome ectasique","Syndrome de l'anthémis du matin","Syndrome de la fleur de liseron","Syndrome morning glory"],"definition":"Anomalie papillaire congénitale caractérisée par une excavation en forme d'entonnoir du pôle postérieur du fond d'oeil, où se situe la papille. Sur le plan clinique, la papille ressemble à une fleur de liseron. L'anomalie papillaire morning glory (MGDA pour morning glory disc anomaly) est généralement unilatérale et entraîne souvent une diminution de la meilleure acuité visuelle corrigée (MAVC). La MGDA peut être isolée ou associée à d'autres anomalies oculaires ou non oculaires."},"de":{"name":"Morning-Glory-Papille","synonyms":["Ektatisches Kolobom","Morning glory-Anomalie","Morning-Glory-Syndrom"],"definition":"Eine angeborene Anomalie des Sehnervenkopfes, die durch eine trichterförmige Aushöhlung des hinteren Augenhintergrundes gekennzeichnet ist, die den Sehnervenkopf einschließt. Das klinische Erscheinungsbild der Sehnervenkopf-Fehlbildung ähnelt der Prunkwinde <i>Ipomoea tricolor</i> (engl. morning glory flower). Die Morning-Glory-Papille (MGP) ist in der Regel unilateral und führt häufig zu einer Abnahme der bestkorrigierten Sehschärfe (BCVA). Die MGP kann isoliert oder in Verbindung mit anderen okulären oder nicht okulären Anomalien auftreten."},"es":{"name":"Síndrome de ''morning glory'''","synonyms":["Coloboma ectásico","Síndrome de la flor de enredadera"],"definition":"Es una anomalía congénita del disco óptico caracterizada por una excavación en forma de embudo en el polo posterior del disco óptico. Clínicamente, la malformación del disco óptico se asemeja a la flor <i>morning glory</i>, nombre en inglés de la flor de enredadera. La anomalía del disco óptico <i>morning glory</i> (MGDA, por sus siglas en inglés) suele ser unilateral y resulta frecuentemente en una disminución de la agudeza visual mejor corregida (AVMC). El MGDA puede presentarse aislado o asociado a otras anomalías tanto oculares como no oculares."},"it":{"name":"Anomalia del dico ottico \"morning glory\"","definition":"Si tratta di una anomalia congenita del disco ottico caratterizzata da una cavità a forma di imbuto nella porzione posteriore del fondo dell'occhio, che incorpora il disco ottico. Dal punto di vista clinico, la malformazione del disco ottico ricorda il fiore gloria del mattino. Di solito l'anomalia del disco ottico ''morning glory'' (MGDA) è monolaterale spesso causa una diminuzione della migliore acuità visiva corretta (BCVA). La MGDA può essere isolata oppure associarsi ad altre anomalie oculari o non oculari."},"nl":{"name":"Morning glory-papilanomalie","synonyms":["Ectasisch coloboom","Morning glory-syndroom","Volubilissyndroom"],"definition":"Morning glory-papilanomalie (MGDA) is een congenitale anomalie van de oogzenuwkop die gekarakteriseerd wordt door een trechtervormige uitholling van de posterieure oogfundus waarin de oogzenuwkop is geïncorporeerd. Klinisch lijkt de malformatie van de oogzenuwkop op dagbloemen (morning glories). Morning glory-papilanomalie is meestal unilateraal en leidt vaak tot vermindering van de best-gecorrigeerde gezichtsscherpte (BCVA). MGDA kan geïsoleerd voorkomen of geassocieerd zijn met andere oculaire of niet-oculaire anomalieën."},"pt":{"name":"Síndrome Morning glory","synonyms":["Coloboma ectásico"]},"pl":{"name":"Anomalia tarczy nerwu wzrokowego w kształcie kwiatu powoju, syn.: zespół kwiatu powoju","synonyms":["Ectasic coloboma"]},"cs":{"name":"Svlačcový syndrom","synonyms":["Ektatický kolobom","Syndrom svlačcového květu"]},"uk":{"name":"Аномалія диску зорового нерву по типу ранкова іпомея (або аномалія по типу morning glory)","synonyms":["Ектазна колобома","Синдром іпомеї"],"definition":"A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies."},"zh":{"name":"牵牛花综合征","synonyms":["牵牛花综合症"]},"tr":{"name":"Gündüz sefası diski anomalisi","synonyms":["Ekazik kolobom","Morning glory sendromu"]}},"xrefs":[{"source":"OMIM","code":"120430","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q14.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA13.7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1266404249"},{"source":"MONDO","code":"0018169","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554721","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13354","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027974","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519333,"name":"Congenital optic disc excavation","classifications":[147,189]},{"orpha":522514,"name":"Congenital optic disc excavation of genetic origin","classifications":[156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12721955[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}