{"orpha":158778,"name":"Isolated bone marrow mastocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The <i>KIT</i> D816V mutation is present in the majority of cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158778/","orphanet_url":"https://www.orpha.net/en/disease/detail/158778","names":{"fr":{"name":"Mastocytose isolée de la moelle osseuse","definition":"Sous-type rare de mastocytose systémique indolente, caractérisé par une atteinte isolée de la moelle osseuse sans lésions cutanées, une faible charge de mastocytes néoplasiques et des taux de tryptase sérique souvent normaux ou proches de la normale. La mutation de <i>KIT D816V</i> est présente dans la majorité des cas."},"de":{"name":"Mastozytose des Knochenmarks, isolierte","definition":"Ein seltener Subtyp der indolenten systemischen Mastozytose, der durch eine isolierte Knochenmarksbeteiligung ohne Hautläsionen, einen geringen Anteil neoplastischer Mastzellen und häufig normale oder nahezu normale Serumtryptasewerte gekennzeichnet ist. Die <i>KIT</i>-Mutation D816V ist in der Mehrzahl der Fälle vorhanden."},"es":{"name":"Mastocitosis medular aislada","definition":"Es un subtipo poco frecuente de mastocitosis sistémica indolente caracterizada por afectación aislada de la médula ósea sin lesiones cutáneas, baja carga de mastocitos neoplásicos y, con frecuencia, niveles normales o casi normales de triptasa sérica. La mutación D816V del gen <i>KIT</i> está presente en la mayoría de los casos."},"it":{"name":"Mastocitosi isolata del midollo osseo","definition":"Si tratta di un sottotipo raro di mastocitosi sistemica silente, caratterizzato dal coinvolgimento isolato del midollo osseo, in assenza di lesioni della cute, livelli bassi di mastociti neoplastici, e livelli spesso normali o quasi normali di triptasi nel siero. La maggior parte dei pazienti presenta la mutazione di <i>KIT</i> D816V."},"nl":{"name":"Geïsoleerde beenmergmastocytose","definition":"Een zeldzaam subtype van indolente systemische mastocytose, gekenmerkt door geïsoleerde betrokkenheid van beenmerg zonder huidlaesies, weinig neoplastische mestcellen, en vaak normale of bijna normale gehaltes van tryptase in serum. De <i>KIT</i>-D816V mutatie is aanwezig in de meerderheid van de gevallen."},"pt":{"name":"Mastocitose da medula óssea, isolada","definition":"Subtipo raro de mastocitose sistémica indolente, caracterizado por envolvimento isolado da medula óssea sem lesões cutâneas, baixa carga de mastócitos neoplásicos e, frequentemente, níveis séricos de triptase normais ou quase normais. A mutação KIT/D816V está presente na maioria dos casos."},"pl":{"name":"Izolowana mastocytoza szpiku kostnego"},"cs":{"name":"Izolovaná mastocytóza kostní dřeně"},"uk":{"name":"Ізольований мастоцитоз кісткового мозку","definition":"A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The <i>KIT</i> D816V mutation is present in the majority of cases."},"zh":{"name":"孤立性骨髓肥大细胞增多症"},"tr":{"name":"İzole kemik iliği mastositozu"}},"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":"922733413"},{"source":"MONDO","code":"0015558","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509020","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":[],"prevalence":[],"phenotypes":null}