{"orpha":268249,"name":"Mycophenolate mofetil embryopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MMF embryopathy"],"definition":"Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268249/","orphanet_url":"https://www.orpha.net/en/disease/detail/268249","names":{"fr":{"name":"Embryopathie au mycophénolate mofétil","synonyms":["Embryopathie au MMF"],"definition":"L'embryopathie au mycophénolate mofétil (MMF) est un syndrome malformatif du à l'effet tératogène du MMF, un immunosuppresseur puissant largement utilisé dans la prévention du rejet de greffe après transplantation d'organe."},"de":{"name":"Mycophenolat-Mofetil-Embryopathie","synonyms":["MMF-Embryopathie","Mykophenolat-Mofetil-Embryopathie"],"definition":"Die Mykophenolat-Mofetil (MMF)-Embryopathie ist ein Fehlbildungssyndrom, verursacht durch die teratogene Substanz MMF, einem in großem Umfang zur Prophylaxe der Abstoßungsreaktion nach Organtransplantation angewendetem Immunsuppressivum."},"es":{"name":"Embriopatía por micofenolato mofetilo","synonyms":["Embriopatía MMF"],"definition":"La embriopatía por micofenolato de mofetilo (MMF) es un síndrome malformativo producido por el efecto teratogénico del MMF, un agente inmunosupresor muy eficaz ampliamente utilizado para la prevención del rechazo de órganos tras un trasplante y en numerosas enfermedades autoinmunes como el Lupus Eritematoso y otras."},"it":{"name":"Embriopatia da micofenolato mofetile","synonyms":["Embriopatia da MMF"],"definition":"L'embriopatia da micofenolato mofetile (MMF) è una sindrome malformativa da effetto teratogeno del MMF, un efficace agente immunosoppressivo ampiamente utilizzato per la prevenzione del rigetto degli organi dopo il trapianto."},"nl":{"name":"Mycofenolaatmofetil-embryopathie","synonyms":["MMF-embryopathie"],"definition":"Een malformatiesyndroom door teratogeen effect van mycofenolaatmofetil (MMF), een doeltreffend immuunsuppressivum dat veel gebruikt wordt voor preventie van afstoting van een orgaan na orgaantransplantatie."},"pt":{"name":"Embriopatia por micofenolato de mofetil","definition":"A embriopatia por micofenolato de mofetil (MMF) é um síndrome polimalformativo devido ao efeito teratogénico do MMF, um agente imunossupressor eficaz e amplamente utilizado para a prevenção da rejeição de órgãos após o transplante."},"pl":{"name":"Embriopatia spowodowana mykofenolanem mofetilu","synonyms":["Embriopatia MMF"]},"cs":{"name":"Mykofenolátová embryopatie","synonyms":["MMF embryopatie"]},"uk":{"name":"Мікофенолатна мофетилова ембріопатія","synonyms":["MMF-ембріопатія"],"definition":"Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation."},"zh":{"name":"霉酚酸酯胚胎病","synonyms":["MMF型胚胎病"],"definition":"霉酚酸酯(MMF)胚胎病是由于MMF的致畸作用而引起的畸形综合征，MMF是一种广泛用于预防器官移植后器官排斥反应的有效免疫抑制剂。"},"tr":{"name":"Mikofenolat mofetil embriyopatisi","synonyms":["MMF embriyopatisi"]}},"xrefs":[{"source":"ICD-10","code":"Q86.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2111105927"},{"source":"MONDO","code":"0017055","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509879","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":251529,"name":"Toxic or drug-related embryofetopathy","classifications":[147,204,216]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"19491002[PMID]","terms":[{"hpo":"HP:0009892","label":"Anotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008437","label":"Bifid thoracic vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}