{"orpha":2451,"name":"Mucocutaneous venous malformations","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cutaneous and mucosal venous malformation","VMCM"],"definition":"A rare hereditary vascular malformation characterized by the presence of small, multifocal, venous lesions involving the skin and mucosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2451/","orphanet_url":"https://www.orpha.net/en/disease/detail/2451","names":{"fr":{"name":"Malformation veineuse cutanéomuqueuse multiple","synonyms":["MVCM","Malformation veineuse cutanée et muqueuse"],"definition":"Malformation vasculaire héréditaire rare caractérisée par la présence de petites lésions veineuses multifocales affectant la peau et les muqueuses."},"de":{"name":"Fehlbildung, mukokutane venöse","synonyms":["Markel-Vikkula-Mulliken-Syndrom","VMCM","Venöse Malformationen, kutane und muköse"],"definition":"Eine seltene hereditäre vaskuläre Fehlbildung, die durch das Vorhandensein kleiner, multifokaler, venöser Läsionen an Haut und Schleimhaut gekennzeichnet ist."},"es":{"name":"Malformaciones venosas mucocutáneas","definition":"Es una malformación vascular hereditaria poco frecuente caracterizada por la presencia de pequeñas lesiones venosas multifocales que afectan a la piel y a la mucosa."},"it":{"name":"Malformazioni venose mucocutanee","synonyms":["Malformazione venosa cutanea e delle mucose","VMCM"]},"nl":{"name":"Mucocutane veneuze malformaties","synonyms":["Cutane en mucosale veneuze malformaties","VMCM","Veneuze malformaties van huid en slijmvlies"],"definition":"Een zeldzame erfelijke vasculaire malformatie, gekenmerkt door de aanwezigheid van kleine, multifocale veneuze laesies met betrokkenheid van huid en mucosa."},"pt":{"name":"Malformações venosas mucocutâneas","synonyms":["Malformações venosas cutâneas e mucosas","VMCM"]},"pl":{"name":"Malformacje żylne błony śluzowej i skóry","synonyms":["Malformacje żylne błony śluzowej i skóry","VMCM"]},"cs":{"name":"Mukokutánní venózní malformace","synonyms":["VMCM","Kožní a slizniční venózní malformace"]},"uk":{"name":"Слизово-шкірні венозні мальформації","synonyms":["Шкірні та слизові венозні мальформації","VMCM"],"definition":"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa."},"zh":{"name":"黏膜和皮肤静脉畸形","synonyms":["皮肤黏膜静脉畸形"]},"tr":{"name":"Mukokutanöz venöz malformasyonlar","synonyms":["VMCM","Kutanöz ve mukozal venöz malformasyon"]}},"xrefs":[{"source":"OMIM","code":"600195","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q27.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1891766655"},{"source":"MONDO","code":"0010842","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563977","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":715339,"name":"Multifocal peripheral venous malformation","classifications":[147,198]},{"orpha":459548,"name":"Rare genetic venous malformation","classifications":[156]}],"children":[],"genes":[{"symbol":"TEK","name":"TEK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301733[PMID]","hgnc":"11724","ensembl":"ENSG00000120156","omim":"600221","loci":["9p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}