{"orpha":199279,"name":"Familial angiolipomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199279/","orphanet_url":"https://www.orpha.net/en/disease/detail/199279","names":{"fr":{"name":"Angiolipomatose familiale","definition":"Maladie génétique rare du tissu sous-cutané caractérisée par la présence de tumeurs sous-cutanées bénignes, généralement multiples, composées de tissu adipeux et de vaisseaux sanguins, se manifestant typiquement par des tumeurs jaunâtres, fermes, circonscrites, de 1 à 4 cm de diamètre, affectant les bras, les jambes et le tronc, pénétrant profondément dans les zones situées entre les muscles, les tendons et les capsules articulaires (sans infiltrer ces structures), survenant chez plusieurs membres d'une même famille. Les tumeurs peuvent être sensibles ou légèrement douloureuses à la palpation et ne régressent pas spontanément."},"de":{"name":"Angiolipomatose, familiäre"},"es":{"name":"Angiolipomatosis familiar","definition":"Es un trastorno del tejido subcutáneo, genético y poco frecuente, caracterizado por la presencia de unos tumores subcutáneos benignos, generalmente múltiples, compuestos por tejido adiposo y vasos sanguíneos. Se manifiesta típicamente con unos tumores amarillentos, firmes, circunscritos, de 1-4 cm de diámetro, ubicados en los brazos, las piernas y el tronco, con una mayor extensión de las lesiones entre los músculos, los tendones y las cápsulas articulares (sin infiltración de estas estructuras), en varios miembros de una misma familia. Los tumores pueden presentar un aumento de la sensibilidad o ser ligeramente dolorosos al tacto y no remiten espontáneamente."},"it":{"name":"Angiolipomatosi familiare","definition":"L'angiolipomatosi familiare è una malattia genetica rara del tessuto sottocutaneo, caratterizzata dalla presenza di tumori sottocutanei benigni, di solito multipli, composti da tessuto adiposo e vasi sanguigni. Si tratta per lo più di tumori circoscritti solidi del diametro di 1-4 cm, di colore giallo, localizzati sulle braccia, sulle gambe e sul tronco, con un'estensione profonda delle lesioni tra i muscoli, i tendini e le capsule articolari (senza infiltrazione di queste strutture), che si manifestano in più membri della stessa famiglia. I tumori si associano ad un aumento della sensibilità locale o ad un lieve dolore alla palpazione e non regrediscono spontaneamente."},"nl":{"name":"Familiale angiolipomatose","definition":"Familiale angiolipomatose is een zeldzame, genetische stoornis van onderhuids weefsel die wordt gekarakteriseerd door de aanwezigheid van goedaardige, meestal meervoudige, subcutane tumoren bestaande uit vetweefsel en bloedvaten, en die zich doorgaans manifesteert als gele, solide, begrensde tumoren met een diameter van 1-4 cm gesitueerd in de armen, benen en romp, met diepe extensie van de laesies tussen spieren, pezen en gewrichtskapsels (zonder infiltratie van deze structuren), in verscheidene leden van één enkele familie. Tumoren kunnen gevoelig of mild pijnlijk zijn bij aanraking en verdwijnen niet spontaan."},"pt":{"name":"Angiolipomatose familiar"},"pl":{"name":"Rodzinna tłuszczakowatość naczyniowa","definition":"*Rodzinna tłuszczakowatość naczyniowa jest rzadkim, genetycznie uwarunkowanym schorzeniem tkanki podskórnej, które charakteryzuje się obecnością łagodnych, zwykle mnogich guzów podskórnych, zbudowanych z tkanki tłuszczowej i naczyń krwionośnych. Typowo ma postać żółtych, twardych, dobrze ograniczonych guzów o średnicy 1-4 cm, zlokalizowanych na ramionach, kończynach dolnych i tułowiu, głęboko penetrujących do obszarów pomiędzy mięśniami, ścięgnami i torebkami stawowymi (bez naciekania tych struktur), które obserwuje się u kilku członków jednej rodziny. Guzy mogą być tkliwe lub lekko bolesne przy palpacji; nie ustępują samoistnie."},"cs":{"name":"Familiární angiolipomatóza"},"uk":{"name":"Сімейний ангіоліпоматоз","definition":"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously."},"zh":{"name":"家族性血管脂肪瘤病","definition":"家族性血管脂肪瘤病是一种罕见的遗传性皮下组织疾病，其主要临床表现为家族成员出现脂肪组织和血管组成的良性皮下肿瘤，一般为黄色质硬的多发性局限性肿瘤，位于手臂、腿部和躯干，直径1-4cm，在肌肉、肌腱和关节囊之间扩散（没有这些结构的浸润）。肿瘤质软或有轻微触痛，不会自行消退。"},"tr":{"name":"ailesel anjiyolipomatoz"}},"xrefs":[{"source":"OMIM","code":"206550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D17.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF02.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008792","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565951","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859784","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}