{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["PROS","PIK3CA-related overgrowth syndrome"],"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-530313/","orphanet_url":"https://www.orpha.net/en/disease/detail/530313","names":{"fr":{"name":"Syndrome d'hypercroissance associé à une mutation de PIK3CA"},"de":{"name":"PIK3CA-assoziiertes Großwuchs-Syndrom","synonyms":["PIK3CA-assoziiertes Überwuchsspektrum","PROS","PIK3CA-assoziiertes Großwuchs-Syndrom"]},"es":{"name":"Trastorno del espectro del sobrecrecimiento asociado al gen PIK3CA","synonyms":["PROS","Síndrome de sobrecrecimiento asociado al gen PIK3CA"]},"it":{"name":"Malattia dello spettro dell'iperaccrescimento correlata a PIK3CA","synonyms":["Sindrome da iperaccrescimento correlato a PIK3CA","PROS"]},"nl":{"name":"PIK3CA-gerelateerde overgroei-spectrumstoornis","synonyms":["PIK3CA-gerelateerd overgroeisyndroom","PROS"]},"pt":{"name":"Síndrome de sobrecrescimento PIK3CA-relacionado"},"pl":{"name":"Zespół nadmiernego wzrostu związany z PIK3CA","synonyms":["PROS","PIK3CA-related overgrowth syndrome"]},"cs":{"name":"PIK3CA-vázaný syndrom s nadměrným vzrůstem","synonyms":["PROS"]},"uk":{"name":"Синдром надмірного росту, повязаний з PIK3CA","synonyms":["PROS"]},"zh":{"name":"PIK3CA基因相关生长过度综合征","synonyms":["PROS"]},"tr":{"name":"PIK3CA-ilişkili aşırı büyüme sendromu","synonyms":["PROS"]}},"xrefs":[{"source":"UMLS","code":"C4728213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081236","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]}],"children":[{"orpha":168984,"name":"CLAPO syndrome","type":"Malformation syndrome"},{"orpha":140944,"name":"CLOVES syndrome","type":"Malformation syndrome"},{"orpha":583097,"name":"Congenital infiltrating lipomatosis of the face","type":"Disease"},{"orpha":276280,"name":"Hemihyperplasia-multiple lipomatosis syndrome","type":"Malformation syndrome"},{"orpha":99802,"name":"Hemimegalencephaly","type":"Malformation syndrome"},{"orpha":295239,"name":"Macrodactyly of fingers, unilateral","type":"Clinical subtype"},{"orpha":295243,"name":"Macrodactyly of toes, unilateral","type":"Clinical subtype"},{"orpha":60040,"name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","type":"Malformation syndrome"},{"orpha":314662,"name":"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}