{"orpha":77298,"name":"Anophthalmia/microphthalmia-esophageal atresia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MCOPS3","Syndromic microphthalmia type 3"],"definition":"A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77298/","orphanet_url":"https://www.orpha.net/en/disease/detail/77298","names":{"fr":{"name":"Syndrome d'anophtalmie/microphtalmie-atrésie de l'oesophage","synonyms":["MCOPS3","Microphtalmie syndromique type 3"],"definition":"Le syndrome anophtalmie/microphtalmie - atrésie de l'oesophage appartient au groupe des microphtalmies syndromiques et il est caractérisé par l'association d'une anophtalmie ou d'une microphtalmie uni- ou bilatérale et d'une atrésie oesophagienne avec ou sans fistule trachéo-oesophagienne."},"de":{"name":"Anophthalmie/Mikrophthalmie-Ösophagusatresie-Syndrom","synonyms":["MCOPS3","Mikrophthalmie, syndromale, Typ 3"],"definition":"Das Anophthalmie-Ösophagusatresie-Syndrom gehört zur Gruppe der syndromalen Mikrophthalmien und ist gekennzeichnet durch die Assoziation von ein-oder beidseitiger Anophthalmie oder Mikrophthalmie und Ösophagusatresie mit oder ohne tracheo-ösophageale Fistel."},"es":{"name":"Síndrome de anoftalmia/microftalmia-atresia esofágica","synonyms":["Microftalmia sindrómica tipo 3"],"definition":"Es un síndrome perteneciente al grupo de las microftalmias sindrómicas caracterizado por la asociación de anoftalmía o microftalmia uni- o bilateral y atresia esofágica, con o sin fístula traqueoesofágica."},"it":{"name":"Anoftalmia/microftalmia - atresia esofagea","synonyms":["MCOPS3","Microftalmia sindromica, tipo 3"]},"nl":{"name":"Anoftalmie/microftalmie - oesofageale atresie-syndroom","synonyms":["MCOPS3","Syndromale microftalmie type 3"],"definition":"Een syndroom dat behoort tot de groep van syndromale microftalmieën, en dat gekenmerkt wordt door de associatie van uni- of bilaterale anoftalmie of microftalmie, en oesofageale atresie met of zonder tracheo-oesofageale fistel."},"pt":{"name":"Síndrome de anoftalmia/microftalmia-atresia esofágica","synonyms":["MCOPS3","Microftalmia sindromática tipo 3"]},"pl":{"name":"Anoftalmia/mikroftalmia - zarośnięcie przełyku","synonyms":["MCOPS3","Syndromiczne małoocze typu 3"]},"cs":{"name":"Syndrom zahrnující anoftalmii/mikroftalmii a atrézii jícnu","synonyms":["MCOPS3","Syndromická mikroftalmie, typ 3"]},"uk":{"name":"Синдром анофтальмії/мікрофтальмії-атрезії стравоходу","synonyms":["MCOPS3","Синдромна мікрофтальмія типу 3"],"definition":"A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula."},"zh":{"name":"无眼/小眼-食管闭锁综合征","synonyms":["综合征性小眼症3型"]},"tr":{"name":"Anoftalmi / mikroftalmi-özofagus atrezisi sendromu","synonyms":["MCOPS3","Sendromik mikroftalmi tip 3"]}},"xrefs":[{"source":"OMIM","code":"206900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"762352633"},{"source":"MONDO","code":"0008799","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859773","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1443","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99987,"name":"OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":371445,"name":"Genetic syndromic esophageal malformation","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":108961,"name":"Syndromic esophageal malformation","classifications":[147,182]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"SOX2","name":"SRY-box transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"11195","ensembl":"ENSG00000181449","omim":"184429","loci":["3q26.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"15578584[PMID]_16543359[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"15578584[PMID]_20301477[PMID]","terms":[{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000878","label":"11 pairs of ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}