{"orpha":2542,"name":"Isolated microphthalmia-anophthalmia-coloboma","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Isolated MAC"],"definition":"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2542/","orphanet_url":"https://www.orpha.net/en/disease/detail/2542","names":{"fr":{"name":"Microphtalmie-anophtalmie-colobome isolée","synonyms":["MAC isolée"],"definition":"Groupe non syndromique d'anomalies du développement structurel de l'oeil caractérisé par une combinaison inconstante d'une microphtalmie, d'un colobome oculaire et d'une anophtalmie, unilatérale ou bilatérale, en l'absence de toute association avec d'autres anomalies oculaires de l'oeil affecté/controlatéral, et en l'absence d'anomalies systémiques."},"de":{"name":"Mikrophthalmie-Anophthalmie-Kolobom, isolierte Form","definition":"Eine nicht-syndromale Gruppe struktureller Entwicklungsdefekte des Auges, die durch die variable Kombination von Mikrophthalmus, okulärem Kolobom und Anophthalmus gekennzeichnet sind, entweder einseitig oder beidseitig, ohne andere assoziierte okuläre Erkrankungen am betroffenen/kontralateralen Auge und ohne systemische Anomalien."},"es":{"name":"Microftalmia-anoftalmia-coloboma aislados","synonyms":["MAC aislados"],"definition":"Es un grupo no sindrómico de defectos estructurales del desarrollo del ojo caracterizado por la combinación variable de microftalmia, coloboma ocular y anoftalmia, ya sea uni-o bilateralmente, sin otras afecciones oculares asociadas en el ojo afectado/ contralateral y sin anomalías sistémicas."},"it":{"name":"Microftalmia-anoftalmia-coloboma isoltati","synonyms":["MAC isolata"],"definition":"Si tratta di un gruppo non sindromico di difetti dello sviluppo dell'occhio, variabilmente caratterizzato da microftalmia, coloboma oculare e anoftalmia mono- o bilaterale. I pazienti non presentano altre malattie oculari (né nell'occhio affetto, né nell'altro occhio), né anomalie sistemiche."},"nl":{"name":"Geïsoleerde microftalmie - anoftalmie - coloboom","synonyms":["Geïsoleerde MAC"],"definition":"Een niet-syndromale groep van structurele ontwikkelingsdefecten van oog, gekarakteriseerd door de variabele combinatie van microftalmie, oculair coloboom, en anoftalmie, ofwel unilateraal ofwel bilateraal, zonder andere geassocieerde oogaandoeningen in het aangetaste/contralaterale oog en zonder systemische anomalieën."},"pt":{"name":"Microftalmia isolada-anoftalmia-coloboma","synonyms":["Síndrome de anoftalmia isolada-microftalmia"]},"pl":{"name":"Izolowana anoftalmia - mikroftalmia","synonyms":["Anoftalmia prymitywna","Anooftalmia kliniczna","Czysta izolowana mikroftalmia"]},"cs":{"name":"Syndrom zahrnující izolovanou anoftalmii a mikroftalmii","synonyms":["MAC spektrum","Spektrum zahrnující mikroftalmii, anoftalmii a kolobom"]},"uk":{"name":"Ізольована мікрофтальмія-анофтальмія-колобома","synonyms":["Синдром ізольованої анофтальмії-мікрофтальмії"],"definition":"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies."},"zh":{"name":"孤立型小眼畸形-无眼畸形-眼底缺损","synonyms":["孤立型无眼畸形-小眼畸形综合征"]},"tr":{"name":"İzole mikroftalmi-anoftalmi-kolobom","synonyms":["İzole anoftalmi-mikroftalmi sendromu"]}},"xrefs":[{"source":"OMIM","code":"156850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"251600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610093","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611038","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613094","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613517","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613704","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615113","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"16764","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679828","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12085","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2543,"name":"OBSOLETE: Microphthalmia-cataract syndrome","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98555,"name":"Microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[{"orpha":730322,"name":"Isolated anophthalmia","type":"Morphological anomaly"},{"orpha":98938,"name":"Isolated colobomatous microphthalmia","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.18,"area":"France","status":"Validated","source":"8921488[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.33,"area":"Sweden","status":"Validated","source":"8921488[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"United States","status":"Validated","source":"8921488[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}