{"orpha":728584,"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-728584/","orphanet_url":"https://www.orpha.net/en/disease/detail/728584","names":{"fr":{"name":"Syndrome d'hypercroissance associé à PIK3CA avec malformation vasculaire"},"de":{"name":"PIK3CA-assoziiertes Großwuchs-Syndrom mit Gefäßfehlbildung","synonyms":["PROS mit assoziierter Gefäßmalformation","PIK3CA-assoziiertes Überwuchsspektrum mit Gefäßfehlbildung"]},"es":{"name":"Trastorno del espectro de sobrecrecimiento asociado al gen PIK3CA con malformación vascular"},"it":{"name":"Malattia dello spettro della crescita eccessiva correlata a PIK3CA con malformazione vascolare"},"nl":{"name":"PIK3CA-gerelateerde overgroei-spectrumstoornis met vaatmalformatie"},"pt":{"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformations"},"pl":{"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation"},"cs":{"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":211277,"name":"Syndromic combined vascular malformation","classifications":[147,198]}],"children":[{"orpha":168984,"name":"CLAPO syndrome","type":"Malformation syndrome"},{"orpha":140944,"name":"CLOVES syndrome","type":"Malformation syndrome"},{"orpha":90308,"name":"Capillary-lymphatic-venous malformation with segmental distribution","type":"Disease"},{"orpha":714737,"name":"Diffuse capillary malformation with overgrowth","type":"Morphological anomaly"},{"orpha":276280,"name":"Hemihyperplasia-multiple lipomatosis syndrome","type":"Malformation syndrome"},{"orpha":60040,"name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}