{"orpha":468672,"name":"Colobomatous macrophthalmia-microcornea syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MACOM syndrome"],"definition":"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468672/","orphanet_url":"https://www.orpha.net/en/disease/detail/468672","names":{"fr":{"name":"Syndrome de macrophtalmie colobomateuse-microcornée","synonyms":["Syndrome MACOM"],"definition":"Maladie génétique rare de l'oeil caractérisée par une microcornée, un colobome de l'iris et de la papille optique, un élargissement axial du globe, un staphylome et une myopie sévère. Les autres signes cliniques sont une cornea plana légère, des malformations de l'angle irido-cornéen avec élévation de la pression intraoculaire, et une faible profondeur de la chambre antérieure. Parmi les autres caractéristiques, on décrit une expressivité variable du phénotype, notamment une atteinte unilatérale ou bilatérale, ou une étendue variable du colobome."},"de":{"name":"Kolobomatöse Makrophthalmie-Mikrokornea-Syndrom","synonyms":["MACOM-Syndrom"],"definition":"Eine seltene genetisch bedingte Augenerkrankung, die durch Mikrokörnchen, Kolobom der Iris und des Sehnervenkopfes, axiale Augapfelvergrößerung, Staphylom und schwere Myopie gekennzeichnet ist. Weitere Manifestationen sind eine leichte Cornea plana, Anomalien des Kammerwinkels mit erhöhtem Augeninnendruck und eine geringe Vorderkammertiefe. Der Phänotyp kann unterschiedlich ausgeprägt sein, z. B. ein- oder beidseitig oder mit unterschiedlichem Kolobomausmaß."},"es":{"name":"Síndrome colobomatoso de macroftalmia-microcórnea","synonyms":["Síndrome MACOM"],"definition":"Es una enfermedad ocular genética y poco frecuente caracterizada por microcórnea, coloboma del iris y del disco óptico, agrandamiento axial del globo, estafiloma y alta miopía. Otras manifestaciones adicionales incluyen la córnea plana leve, las anomalías del ángulo iridocorneal con elevación de la presión intraocular y cámara anterior poco profunda. Se ha descrito una expresividad variable del fenotipo, incluyendo la afectación uni- o bilateral, o la extensión del coloboma, entre otras características."},"it":{"name":"Sindrome macroftalmia colobomatosa - microcornea","definition":"Si tratta di una malattia genetica rara dell'occhio, caratterizzata da microcornea, coloboma dell'iride e del disco ottico, ingrossamento assiale del globo, stafiloma e miopia grave. Altri segni clinici sono la cornea piana lieve, le anomalie dell'angolo irido-corneale con aumento della pressione intraoculare e la ridotta profondità della camera anteriore. L'espressione è variabile: la malattia può interessare uno o entrambi gli occhi e le dimensioni del coloboma sono variabili."},"nl":{"name":"Colobomateuze macroftalmie - microcornea-syndroom","synonyms":["MACOM-syndroom"],"definition":"Een zeldzame, genetische aandoening van oog, gekarakteriseerd door microcornea, coloboom van iris en papil, axiale vergroting van oogbol, stafyloom, en ernstige myopie. Bijkomende manifestaties zijn milde cornea plana, afwijkingen van kamerhoek met verhoging van intraoculaire druk, en ondiepe voorste oogkamer. Er werd variabele expressiviteit van het fenotype beschreven, met onder meer unilaterale of bilaterale betrokkenheid, of variabele mate van coloboom."},"pt":{"name":"Síndrome de macroftalmia colobomatosa-microcórnea"},"pl":{"name":"Zespół szczelinowatego wielkoocza i rogówki małej","synonyms":["Zespół MACOM"]},"cs":{"name":"Syndrom kolobomatózní makroftalmie a mikrokorney","synonyms":["MACOM syndrome","MACOM syndrom"]},"uk":{"name":"Синдром колобоматозної макрофтальмії-мікророгівки","synonyms":["Синдром МАСОМ"],"definition":"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features."},"zh":{"name":"疣状巨眼-小角膜综合征","synonyms":["MACOM综合征"]},"tr":{"name":"Kolobomatöz makroftalmi-mikrokornea sendromu","synonyms":["MACOM sendromu"]}},"xrefs":[{"source":"OMIM","code":"602499","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA10.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011239","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566533","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865286","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519272,"name":"Structural developmental eye defect","classifications":[147,189]},{"orpha":522536,"name":"Structural developmental eye defect of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"CRIM1","name":"cysteine rich transmembrane BMP regulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25561690[PMID]","hgnc":"2359","ensembl":"ENSG00000150938","omim":"606189","loci":["2p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"12900897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12900897[PMID]"}],"phenotypes":null}