{"orpha":98938,"name":"Isolated colobomatous microphthalmia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated microphthalmia with colobomatous cyst"],"definition":"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98938/","orphanet_url":"https://www.orpha.net/en/disease/detail/98938","names":{"fr":{"name":"Microphtalmie colobomateuse isolée","synonyms":["Microphtalmie isolée avec kyste colobomateux"],"definition":"La microphtalmie colobomateuse est une anomalie du développement de l'oeil caractérisée par une microphtalmie unilatérale ou bilatérale, associée à un colobome oculaire."},"de":{"name":"Isolierte kolobomatöse Mikrophthalmie","synonyms":["Isolierte Mikrophthalmie mit kolobomatöser Zyste"]},"es":{"name":"Microftalmia colobomatosa aislada","synonyms":["Microftalmia aislada con quistes colobomatosos"],"definition":"La microftalmia colobomatosa es un trastorno del desarrollo del ojo que se caracteriza por una microftalmia unilateral o bilateral asociada con un coloboma ocular."},"it":{"name":"Microftalmia colobomatosa isolata","synonyms":["Microftalmia isolata con cisti colobomatosa"],"definition":"La microftalmia colobomatosa è un difetto dello sviluppo oculare caratterizzato da microftalmia monolaterale o bilaterale, associata a coloboma oculare."},"nl":{"name":"Geïsoleerde colobomateuze microftalmie","synonyms":["Geïsoleerde microftalmie met colobomateuze cyste"],"definition":"Colobomateuze microftalmie is een ontwikkelingsstoornis van het oog die gekenmerkt wordt door unilaterale of bilaterale microftalmie geassocieerd met oculair coloboom."},"pt":{"name":"Microftalmia colobomatosa"},"pl":{"name":"Małoocze szczelinowate","synonyms":["MAC","Małoocze - bezocze - coloboma","Małoocze z torbielą szczelinową"]},"cs":{"name":"Kolobomatózní mikroftalmie","synonyms":["MAC","Mikroftalmie s kolobomatózní cystou","Syndrom zahrnující mikroftalmii, anoftalmii a kolobom"]},"uk":{"name":"Колобоматозна мікрофтальмія","synonyms":["MAC","Мікрофтальмія з колобоматозною кістою","Синдром мікрофтальмії-анофтальмії-колобоми"],"definition":"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma."},"zh":{"name":"缺损性小眼","synonyms":["小眼-无眼-眼球缺损综合征"],"definition":"缺损性小眼球是一种以单侧或双侧小眼球伴眼缺损为特征的眼部发育障碍。"},"tr":{"name":"Kolobomatöz mikroftalmi","synonyms":["MAC","Kolobomatöz kistli mikroftalmi","Mikroftalmi-anoftalmi-kolobom sendromu"]}},"xrefs":[{"source":"OMIM","code":"251505","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300345","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"601186","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605738","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610092","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611638","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613703","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614497","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615145","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616428","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA10.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1208828500"},{"source":"MONDO","code":"0000170","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"170","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4255043","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3644","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2542,"name":"Isolated microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia","type":"Clinical subtype"},{"orpha":730721,"name":"Isolated partial colobomatous microphthalmia","type":"Clinical subtype"}],"genes":[{"symbol":"GDF6","name":"growth differentiation factor 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19864492[PMID]","hgnc":"4221","ensembl":"ENSG00000156466","omim":"601147","loci":["8q22.1"]},{"symbol":"SIX6","name":"SIX homeobox 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10892","ensembl":"ENSG00000184302","omim":"606326","loci":["14q23.1"]},{"symbol":"ABCB6","name":"ATP binding cassette subfamily B member 6 (LAN blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22226084[PMID]","hgnc":"47","ensembl":"ENSG00000115657","omim":"605452","loci":["2q35"]},{"symbol":"ALDH1A3","name":"aldehyde dehydrogenase 1 family member A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23312594[PMID]","hgnc":"409","ensembl":"ENSG00000184254","omim":"600463","loci":["15q26.3"]},{"symbol":"GDF3","name":"growth differentiation factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19864492[PMID]","hgnc":"4218","ensembl":"ENSG00000184344","omim":"606522","loci":["12p13.31"]},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]},{"symbol":"PORCN","name":"porcupine O-acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33111437[PMID]","hgnc":"17652","ensembl":"ENSG00000102312","omim":"300651","loci":["Xp11.23"]},{"symbol":"RAX","name":"retina and anterior neural fold homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"18662","ensembl":"ENSG00000134438","omim":"601881","loci":["18q21.32"]},{"symbol":"RBP4","name":"retinol binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25910211[PMID]","hgnc":"9922","ensembl":"ENSG00000138207","omim":"180250","loci":["10q23.33"]},{"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"]},{"symbol":"STRA6","name":"signaling receptor and transporter of retinol STRA6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21901792[PMID]","hgnc":"30650","ensembl":"ENSG00000137868","omim":"610745","loci":["15q24.1"]},{"symbol":"TENM3","name":"teneurin transmembrane protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22766609[PMID]","hgnc":"29944","ensembl":"ENSG00000218336","omim":"610083","loci":["4q34.3-q35.1"]},{"symbol":"VSX2","name":"visual system homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15257456[PMID]","hgnc":"1975","ensembl":"ENSG00000119614","omim":"142993","loci":["14q24.3"]}],"genes_via_subtypes":[{"symbol":"SIX6","name":"SIX homeobox 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10892","ensembl":"ENSG00000184302","omim":"606326","loci":["14q23.1"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"ALDH1A3","name":"aldehyde dehydrogenase 1 family member A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23312594[PMID]","hgnc":"409","ensembl":"ENSG00000184254","omim":"600463","loci":["15q26.3"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"BEST1","name":"bestrophin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19375515[PMID]","hgnc":"12703","ensembl":"ENSG00000167995","omim":"607854","loci":["11q12.3"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"CRB1","name":"crumbs cell polarity complex component 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19375515[PMID]","hgnc":"2343","ensembl":"ENSG00000134376","omim":"604210","loci":["1q31.3"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"MFRP","name":"membrane frizzled-related protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15976030[PMID]","hgnc":"18121","ensembl":"ENSG00000235718","omim":"606227","loci":["11q23.3"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"PRSS56","name":"serine protease 56","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21850159[PMID]","hgnc":"39433","ensembl":"ENSG00000237412","omim":"613858","loci":["2q37.1"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"RAX","name":"retina and anterior neural fold homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24033328[PMID]","hgnc":"18662","ensembl":"ENSG00000134438","omim":"601881","loci":["18q21.32"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12503095[PMID]","hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"],"via":{"orpha":730721,"name":"Isolated partial colobomatous microphthalmia"}},{"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"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}},{"symbol":"TMEM98","name":"transmembrane protein 98","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24852644[PMID]","hgnc":"24529","ensembl":"ENSG00000006042","omim":"615949","loci":["17q11.2"],"via":{"orpha":35612,"name":"Isolated complete colobomatous microphthalmia"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.0,"area":"United Kingdom","status":"Validated","source":"11826019[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":19.0,"area":"United Kingdom","status":"Validated","source":"11826019[PMID]_ORPHANET"}],"phenotypes":null}