{"orpha":314662,"name":"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare <i>PIK3CA</i>-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314662/","orphanet_url":"https://www.orpha.net/en/disease/detail/314662","names":{"fr":{"name":"Syndrome de croissance segmentaire progressive avec hyperplasie fibroadipeuse","definition":"Syndrome d'hypercroissance associé à une mutation de <i>PIK3CA</i> caractérisé par une hypercroissance segmentaire et progressive, concernant principalement le tissu adipeux, ou le tissu adipeux et fibreux, et de manière inconstante, le tissu sous-cutané et musculaire, ainsi que par une hypercroissance squelettique. Bien qu'elle soit fréquemment asymétrique et disproportionnée, affectant davantage les extrémités inférieures que supérieures et progressant de la partie distale vers la partie proximale, la sévérité et l'étendue de l'hypercroissance sont très variables. Une hypercroissance congénitale est généralement associée."},"de":{"name":"Segmental-progressives Großwuchs-Syndrom mit fibroadipöser Hyperplasie","definition":"Eine seltenes PIK3CA-assoziiertes Großwuchssyndrom, das durch segmentales und fortschreitendes übermäßiges Wachstum gekennzeichnet ist. Vorwiegend ist das Fettgewebe oder eine Mischung aus Fett- und Fasergewebe betroffen mit variabler Beteiligung von subkutanem und muskulärem Gewebe sowie skelettaler Überwuchs. Der Schweregrad und das Ausmaß der Überwucherung sind sehr unterschiedlich, obwohl sie häufig asymmetrisch und disproportional ist, die unteren Extremitäten stärker betrifft als die oberen und in einem Muster von distal nach proximal verläuft. Kongenitales Überwachstum ist typischerweise assoziiert."},"es":{"name":"Síndrome de sobrecrecimiento segmentario progresivo con hiperplasia fibroadiposa","definition":"Es un síndrome poco frecuente de sobrecrecimiento asociado a PIK3CA caracterizado por un sobrecrecimiento segmentario y progresivo que afecta principalmente al tejido adiposo o a una mezcla de tejido adiposo y fibroso, con distintos grados de afectación del tejido subcutáneo y muscular, así como por sobrecrecimiento esquelético. La gravedad y el grado de sobrecrecimiento son muy variables, aunque suele ser asimétrico y desproporcionado, con mayor afectación de las extremidades inferiores que de las superiores y un patrón de progresión de distal a proximal. El síndrome asocia típicamente sobrecrecimiento congénito."},"it":{"name":"Sindrome da iperaccrescimento segmentale progressivo con iperplasia fibroadiposa","definition":"È una sindrome rara da iperaccrescimento correlata a PIK3CA, caratterizzata da iperaccrescimento segmentale progressivo, che interessa prevalentemente il tessuto adiposo, oppure contemporaneamente il tessuto adiposo e fibroso, con coinvolgimento variabile del tessuto sottocutaneo e muscolare, associato ad iperaccrescimento scheletrico. L'iperaccrescimento ha gravità ed estensione variabili, spesso è asimmetrico e sproporzionato, interessa maggiormente gli arti inferiori e progredisce in senso distale-prossimale. Di solito si associa ad iperaccrescimento congenito."},"nl":{"name":"Segmentaal progressief overgroeisyndroom met fibroadipose hyperplasie","definition":"Een zeldzaam, PIK3CA-gerelateerd overgroeisyndroom, gekarakteriseerd door segmentale en progressieve overgroei, met voornamelijk betrokkenheid van vetweefsel of een mix van vetweefsel en fibreus weefsel, variabele betrokkenheid van subcutaan en musculair weefsel, en skeletale overgroei. De ernst en de mate van overgroei zijn zeer variabel, hoewel het vaak asymmetrisch en disproportioneel is, de onderste ledematen meer getroffen worden dan de bovenste, en progressie volgens een distaal naar proximaal patroon verloopt. Congenitale overgroei is doorgaans geassocieerd."},"pt":{"name":"Síndrome de sobrecrescimento progressivo segmentar com hiperplasia fibroadiposa"},"pl":{"name":"Zespół odcinkowego przerostu postępującago z hiperplazją włóknisto-tłuszczową"},"cs":{"name":"Segmentální progresivní syndrom nadměrného vzrůstu s fibroadipózní hyperplázií"},"uk":{"name":"Синдром сегментарного прогресуючого розростання з фіброадипозною гіперплазією","definition":"A rare <i>PIK3CA</i>-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated."},"zh":{"name":"节段进行性过度生长综合征伴纤维脂肪增生","definition":"一种罕见的PIK3CA基因相关的过度生长综合征，特征是节段性和进行性过度生长，主要累及脂肪组织，或脂肪和纤维组织的混合物，伴有皮下和肌肉组织以及骨骼过度生长。过度生长的严重程度和范围高度可变，尽管经常是不对称的和不相称的。其累及下肢多于上肢，并以远端到近端的模式发展。先天性生长过度是典型的相关因素。"},"tr":{"name":"Fibroadipoz hiperplazi ile seyreden segmental ilerleyici aşırı büyüme sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017812","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192432","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","classifications":[147,156]}],"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":"22729222[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"22729222[PMID]"},{"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":"2024-02-05","source":"22729222[PMID]_23946963[PMID]","terms":[{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009126","label":"Increased adipose tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010816","label":"Epidermal nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030424","label":"Epididymal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null}]}}