{"orpha":178364,"name":"Syndromic microphthalmia type 5","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MCOPS5","Syndromic microphthalmia/anophthalmia due to OTX2 mutation"],"definition":"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178364/","orphanet_url":"https://www.orpha.net/en/disease/detail/178364","names":{"fr":{"name":"Microphtalmie syndromique type 5","synonyms":["MCOPS5","Microphtalmie/anophtalmie syndromique due à une mutation de OTX2"],"definition":"La microphtalmie syndromique type 5 est caractérisée par l'association d'un ensemble d'anomalies oculaires (anophtalmie, microphtalmie et anomalies rétiniennes) et de diverses malformations du système nerveux central avec retard de développement."},"de":{"name":"Syndromale Mikrophthalmie Typ 5","synonyms":["Syndromale Mikrophthalmie durch OTX2-Genmutation"],"definition":"Der Typ 5 der Syndromalen Mikrophthalmie ist gekennzeichnet durch verschiedene Augenanomalien (Anophthalmie, Mikrophthalmie, Netzhautanomalien), unterschiedlich starke Entwicklungsverzögerung und Fehlbildungen des Zentralnervensystems."},"es":{"name":"Microftalmia sindrómica tipo 5","synonyms":["MCOPS5","Microftalmia sindrómica por una mutación en el gen OTX2"],"definition":"La microftalmía sindrómica tipo 5 se caracteriza por la asociación de una serie de anomalías oculares (anoftalmía, microftalmía y anomalías de la retina) con un retraso variable del desarrollo y malformaciones del sistema nervioso central."},"it":{"name":"Microftalmia sindromica da mutazione di OTX2","definition":"La microftalmia sindromica tipo 5 è caratterizzata dall'associazione tra diverse anomalie oculari (anoftalmia, microftalmia e anomalie retiniche), variabile ritardo dello sviluppo e malformazioni del sistema nervoso centrale."},"nl":{"name":"Syndromale microftalmie type 5","synonyms":["Syndromale microftalmie/anoftalmie door OTX2-mutatie"],"definition":"Syndromale microftalmie type 5 wordt gekenmerkt door de associatie van allerlei ooganomalieën (anoftalmie, microftalmie en afwijkingen van retina) met variabele ontwikkelingsachterstand en malformaties van centraal zenuwstelsel."},"pt":{"name":"Microftalmia sindromática tipo 5","synonyms":["Microftalmia sindromática por mutação no gene OTX2"]},"pl":{"name":"Syndromiczne małoocze typu 5","synonyms":["MCOPS5","Syndromiczne małoocze/bezocze z powodu mutacji OTX2"]},"cs":{"name":"Syndromická mikroftalmie, typ 5","synonyms":["MCOPS5","Syndromická mikroftalmie/anoftalmie způsobená mutací OTX2 genu"]},"uk":{"name":"Синдромальна мікрофтальмія, тип 5","synonyms":["MCOPS5","Синдромальна мікрофтальмія/анофтальмія внаслідок мутації OTX2"],"definition":"Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations."},"zh":{"name":"综合征性小眼畸形5型","synonyms":["OTX2基因突变所致综合征性小眼畸形/无眼畸形"],"definition":"综合征性小眼症5型的主要临床表现为眼部异常（无眼畸形、小眼症和视网膜异常）、表型多样的发育迟滞和中枢神经系统畸形。"},"tr":{"name":"Sendromik mikroftalmi tip 5","synonyms":["MCOPS5","OTX2 mutasyonuna bağlı sendromik mikroftalmi/anoftalmi"]}},"xrefs":[{"source":"OMIM","code":"610125","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1937797697"},{"source":"MONDO","code":"0012413","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864690","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15846561[PMID]_20396904[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}