{"orpha":158775,"name":"Smoldering systemic mastocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158775/","orphanet_url":"https://www.orpha.net/en/disease/detail/158775","names":{"fr":{"name":"Mastocytose systémique type smoldering","definition":"Forme rare et lentement progressive de mastocytose systémique (MS) caractérisée par une accumulation progressive de mastocytes néoplasiques dans les organes viscéraux. Les patients présentent généralement une splénomégalie, une moelle hypercellulaire et, dans la plupart des cas, des lésions cutanées de type urticaire pigmentaire."},"de":{"name":"Schwelende systemische Mastozytose","definition":"Eine seltene, langsam fortschreitende Form der systemischen Mastozytose (SM), die durch eine allmähliche Ansammlung von neoplastischen Mastzellen in den viszeralen Organen gekennzeichnet ist. Die Patienten präsentieren sich typischerweise mit Splenomegalie, hyperzellulärem Knochenmark und, in den meisten Fällen, Urtikaria-Pigmentosa-ähnlichen Hautläsionen."},"es":{"name":"Mastocitosis sistémica latente","synonyms":["Mastocitosis sistémica \"smouldering\"","Mastocitosis sistémica quiescente"],"definition":"Es una forma de mastocitosis sistémica (MS) infrecuente y de progresión lenta caracterizada por un acúmulo gradual de mastocitos neoplásicos en los órganos viscerales. Por lo general, los pacientes presentan esplenomegalia, médula hipercelular y, en la mayoría de los casos, lesiones de piel similares a la urticaria pigmentosa."},"it":{"name":"Mastocitosi sistemica intermedia","definition":"La mastocitosi sistemica intermedia (SSM) è una forma di mastocitosi sistemica (SM) rara a progressione lenta, caratterizzata da un graduale accumulo di mastociti neoplastici negli organi interni. Di solito i pazienti presentano splenomegalia, midollo ipercellulare e, nella maggior parte dei casi, lesioni cutanee che ricordano l'orticaria pigmentosa."},"nl":{"name":"Smeulende systemische mastocytose","definition":"Een zeldzame, traag progressieve vorm van systemische mastocytose (SM), gekarakteriseerd door graduele accumulatie van neoplastische mestcellen in de inwendige organen. Patiënten vertonen doorgaans splenomegalie, hypercellulair beenmerg en, in de meeste gevallen, urticaria pigmentosa-achtige huidletsels."},"pt":{"name":"Mastocitose sistémica do lactente"},"pl":{"name":"Tląca się mastocytoza układowa","definition":"Tląca się mastocytoza układowa jest typem mastocytozy układowej (SM; zobacz ten termin). To klonalna choroba hematologiczna, z powolnym postępem, powodująca z czasem nagromadzenie nowotworowych komórek tucznych w narządach trzewnych i pacjenci mają powiększenie śledziony, bogatokomórkowy szpik i, w niektórych przypadkach, zmiany skórne o typie pokrzywki barwnikowej."},"cs":{"name":"Doutnající systémová mastocytóza"},"uk":{"name":"Тліючий системний мастоцитоз","definition":"A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions."},"zh":{"name":"郁积型全身肥大细胞增多症","definition":"一种罕见的缓慢进展型全身性肥大细胞增多症(SM)，其特征是内脏器官中肿瘤性肥大细胞逐渐聚集。患者通常表现为脾肿大、骨髓细胞增多，且在多数情况下，还表现为荨麻疹色素样皮肤病变。"},"tr":{"name":"Yanan sistemik mastositoz"}},"xrefs":[{"source":"ICD-10","code":"D47.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"481663898"},{"source":"MONDO","code":"0015557","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3897042","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":2467,"name":"Systemic mastocytosis","classifications":[194,202]}],"children":[],"genes":[{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}