{"orpha":276280,"name":"Hemihyperplasia-multiple lipomatosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HHML"],"definition":"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276280/","orphanet_url":"https://www.orpha.net/en/disease/detail/276280","names":{"fr":{"name":"Syndrome de la lipomatose multiple-hémihyperplasie","synonyms":["HHML"],"definition":"Syndrome de croissance excessive d'origine génétique caractérisé par une hémihyperplasie modérée, asymétrique et non progressive (affectant fréquemment les membres) associée à des masses lipomateuses sous-cutanées, multiples, récurrentes, indolores et à croissance lente, réparties sur l'ensemble du corps (affectant en particulier le dos, le torse, les extrémités, les doigts et les aisselles). Peuvent par ailleurs être associés, des malformations vasculaires superficielles, ainsi qu'un risque accru de tumeurs malignes embryonnaires intra-abdominales."},"de":{"name":"Hemihyperplasie-multiples Lipomatosis-Syndrom","synonyms":["HHML"],"definition":"Das Hemihyperplasie-Multiple-Lipomatose-Syndrom ist ein seltenes, genetisch bedingtes Grosswuchssyndrom, das durch eine nicht-progrediente, asymmetrische, moderate Hemihyperplasie (häufig an den Gliedmassen) in Verbindung mit langsam wachsenden, schmerzlosen, multiplen, rezidivierenden, subkutanen lipomatösen Gewebeverdichtungen am ganzen Körper (insbesondere am Rücken, Rumpf, den Extremitäten, Fingern und Achselhöhlen) gekennzeichnet ist. Es können auch oberflächliche vaskuläre Fehlbildungen auftreten. Es kann ein erhöhtes Risiko für intraabdominale embryonale Malignome bestehen."},"es":{"name":"Síndrome de hemihiperplasia-lipomatosis múltiple","synonyms":["HHML"],"definition":"Es un síndrome de sobrecrecimiento, genético y poco frecuente, caracterizado por hemihiperplasia moderada asimétrica y no progresiva (que, por lo general, afecta a las extremidades) junto con masas lipomatosas subcutáneas, múltiples, recurrentes, indoloras, de crecimiento lento, distribuidas por todo el cuerpo (en particular, en espalda, torso, extremidades, dedos, axilas). Los afectados también pueden presentar malformaciones vasculares superficiales. Asimismo, se puede asociar un mayor riesgo de neoplasias intraabdominales embrionarias."},"it":{"name":"Sindrome da emi-iperplasia e lipomatosi multipla","synonyms":["HHML"],"definition":"La sindrome che associa emi-iperplasia e lipomatosi multipla è una malattia genetica rara da iperaccrescimento, caratterizzata da emi-iperplasia moderata asimmetrica non progressiva (che spesso interessa gli arti), associata a crescita lenta, masse lipomatose multiple sottocutanee indolori ricorrenti a crescita lenta, distribuite su tutto il corpo (in particolare sulla schiena, sul busto, sugli arti, sulle dita e alle ascelle). Possono essere presenti malformazioni vascolari superficiali. Inoltre, può aumentare il rischio di tumori maligni embrionali intraddominali."},"nl":{"name":"Hemihyperplasie - multipele lipomatose-syndroom","synonyms":["HHML"],"definition":"Hemihyperplasie - meervoudige lipomatose-syndroom is een zeldzaam, genetisch overgroeisyndroom dat gekarakteriseerd wordt door niet-progressieve, asymmetrische, matige hemihyperplasie (die vaak de ledematen treft), geassocieerd met traag groeiende, pijnloze, meervoudige, recurrente, subcutane lipomateuze massa's verspreid over het hele lichaam (voornamelijk de rug, borst, ledematen, vingers, oksels). Oppervlakkige vasculaire malformaties kunnen ook geassocieerd zijn. Een verhoogd risico op intra-abdominale embryonale maligniteiten is mogelijk geassocieerd."},"pt":{"name":"Síndrome de lipomatose múltipla-hemihiperplasia"},"pl":{"name":"Zespół przerost połowiczy-mnoga tłuszczakowatość","synonyms":["HHML"],"definition":"*Zespół przerost połowiczy-mnoga tłuszczakowatość jest rzadkim, genetycznie uwarunkowanym zespołem z przerostem, który charakteryzuje się niepostępującym, asymetrycznyn, umiarkowanym przerostem połowiczym (często dotyczącym kończyn), z towarzyszącymi licznymi, bezbolesnymi, nawracającymi podskórnymi masami tłuszczakowatymi o powolnym wzroście, rozmieszczonymi na całym ciele (w szczególności na plecach, tułowiu, kończynach, palcach, pod pachami). Mogą współwystępować malformacje powierzchownych naczyń krwionośnych. Ponadto zespół ten może być związany ze zwiększonym ryzykiem wystąpienia zarodkowych nowotworów jamy brzusznej."},"cs":{"name":"Syndrom zahrnující hemihyperplázii a mnohočetnou lipomatózu","synonyms":["HHML"]},"uk":{"name":"Синдром гемігіперплазії-множинного ліпоматозу","synonyms":["HHML"],"definition":"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated."},"zh":{"name":"偏侧增生-多发性脂肪过多症综合征","synonyms":["HHML"],"definition":"半身性增生-多发性脂肪瘤综合征是一种罕见的遗传性过度生长综合征，其特征为非进行性、不对称性、中度半身性增生(常累及四肢)，伴有缓慢生长、无痛、多发性、复发性皮下脂肪肿块，分布于全身(特别是背部、躯干、四肢、手指、腋窝)。浅表血管畸形也可能与此相关。腹内胚胎恶性肿瘤的风险增加可能与此有关。"},"tr":{"name":"Hemihiplazi-çoklu lipomatoz sendromu","synonyms":["HHML"]}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017177","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749904","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","classifications":[147,156]},{"orpha":728584,"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation","classifications":[147,198]},{"orpha":458830,"name":"Rare capillary malformation with associated anomalies","classifications":[147,156,198]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"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":"24782230[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"9781913[PMID]_20058713[PMID]_19438675[PMID]_20105568[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":"2017-05-15","source":"24782230[PMID]_25557259[PMID]_25915946[PMID]","terms":[{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004099","label":"Macrodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010714","label":"2-4 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002624","label":"Abnormal venous morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040009","label":"Hyperparakeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012887","label":"Ovarian serous cystadenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null}]}}