{"orpha":714785,"name":"Unifocal sporadic venous malformation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Unifocal sporadic VM"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714785/","orphanet_url":"https://www.orpha.net/en/disease/detail/714785","names":{"fr":{"name":"Malformation veineuse unifocale sporadique","synonyms":["MV unifocale sporadique"]},"de":{"name":"Unifokale sporadische venöse Fehlbildung","synonyms":["Unifokale sporadische VM","Unifokale sporadische venöse Malformation"]},"es":{"name":"Malformación venosa esporádica unifocal","synonyms":["MAV esporádica unifocal"]},"it":{"name":"Malformazione venosa sporadica monofocale","synonyms":["MV sporadica monofocale"]},"nl":{"name":"Unifocale sporadische veneuze malformatie","synonyms":["Unifocale sporadische VM"]},"pt":{"name":"Unifocal sporadic venous malformation"},"pl":{"name":"Jednoogniskowa sporadyczna malformacja żylna","synonyms":["Unifocal sporadic VM"]},"cs":{"name":"Unifocal sporadic venous malformation","synonyms":["Unifocal sporadic VM"]}},"xrefs":[{"source":"ICD-10","code":"Q27.3","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":715334,"name":"Unifocal peripheral venous malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26637981[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]},{"symbol":"TEK","name":"TEK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26637981[PMID]","hgnc":"11724","ensembl":"ENSG00000120156","omim":"600221","loci":["9p21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}