{"orpha":98849,"name":"Systemic mastocytosis with associated hematologic neoplasm","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SM-AHN","SM-AHNMD","Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease"],"definition":"An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98849/","orphanet_url":"https://www.orpha.net/en/disease/detail/98849","names":{"fr":{"name":"Mastocytose systémique associée à une maladie hématologique","synonyms":["Mastocytose systémique associée à une hémopathie clonale non mastocytaire","SM-AHN","SM-AHNMD"],"definition":"Forme avancée de mastocytose systémique (MS) caractérisée par une accumulation anormale de mastocytes (MC) néoplasiques dans un ou plusieurs organes extracutanés, principalement la moelle osseuse, associée à une autre hémopathie non mastocytaire."},"de":{"name":"Mastozytose, systemische, mit assoziierter hämatologischer Neoplasie","synonyms":["SM-AHN","SM-AHNMD","Systemische Mastozytose mit assozierter klonaler hämatologische Nicht-Mastzell-Erkrankung"],"definition":"Eine fortgeschrittene Form der systemischen Mastozytose (SM), die durch eine abnorme Ansammlung von neoplastischen Mastzellen (MCs) in einem oder mehreren extrakutanen Organen, hauptsächlich im Knochenmark, gekennzeichnet ist und mit einer anderen hämatologischen Neoplasie nicht MC-artiger Natur einhergeht."},"es":{"name":"Mastocitosis sistémica con neoplasia hematológica asociada","synonyms":["Mastocitosis sistémica asociada con enfermedad clonal hematológica de línea no mastocítica","SM-AHN","SM-AHNMD"],"definition":"Es una forma avanzada de mastocitosis sistémica (MS) caracterizada por un acúmulo anómalo de mastocitos neoplásicos en uno o más órganos extracutáneos, principalmente en médula ósea, asociado con otra neoplasia hematológica de naturaleza no mastocitoide."},"it":{"name":"Mastocitosi sistemica associata a neoplasia ematologica","synonyms":["SM-AHN","SM-AHNMD"],"definition":"La mastocitosi sistemica associata ad una neoplasia ematologica (SM-AHN) è una forma avanzata di mastocitosi sistemica (SM), caratterizzata da un accumulo anomalo di mastociti (MC) neoplastici in una o più sedi extracutanee (in particolare il midollo osseo), associato ad un'altra neoplasia ematologica che non interessa i mastociti."},"nl":{"name":"Systemische mastocytose met geassocieerd hematologisch neoplasma","synonyms":["SM-AHN","SM-AHNMD","Systemische mastocytose met een geassocieerde klonale hematologische, niet van mastocyten afkomstige ziekte"],"definition":"Een gevorderde vorm van systemische mastocytose (SM) gekarakteriseerd door de abnormale accumulatie van neoplastische mestcellen (MC's) in een of meer extracutane organen, voornamelijk het beenmerg, geassocieerd met een ander hematologisch neoplasma niet afkomstig van MC's."},"pt":{"name":"Mastocitose sistémica com uma doença hematológica clonal de linhagem não-mastocitária associada"},"pl":{"name":"Mastocytoza układowa z towrzyszącym kolnalnym rozrostem linii komórkowych niemastocytowych","synonyms":["SM-AHN","SM-AHNMD","Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease"]},"cs":{"name":"Systémová mastocytóza spojená s klonální hematologickou nemocí z jiných buněk než mastocytů","synonyms":["SM-AHN","SM-AHNMD","Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease"]},"uk":{"name":"Системний мастоцитоз із супутнім гематологічним новоутворенням","synonyms":["SM-AHN","SM-AHNMD","Системний мастоцитоз з асоційованим клональним гематологічним захворюванням немастоцитарної лінії"],"definition":"An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature."},"zh":{"name":"系统性肥大细胞增多症伴相关性血液肿瘤","synonyms":["系统性肥大细胞增多症伴血液克隆性非肥大细胞系疾病"],"definition":"该病是一种进展型全身性肥大细胞增多症(SM)，其特征是肿瘤性肥大细胞(MC)在一个或多个皮肤外器官(主要是骨髓)异常聚集，并伴有另一种非MC性质的血液肿瘤。"},"tr":{"name":"Hematolojik neoplazm ilişkili sistemik mastositoz","synonyms":["SM-AHN","SM-AHNMD","İlişkili bir klonal hematolojik mast dışı hücre soy hastalığı ile seyreden 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":"572179318"},{"source":"ICD-11","code":"XH5195","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"369515831"},{"source":"MONDO","code":"0020332","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"20332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1301365","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":"ASXL1","name":"ASXL transcriptional regulator 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25567135[PMID]","hgnc":"18318","ensembl":"ENSG00000171456","omim":"612990","loci":["20q11.21"]},{"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"]},{"symbol":"SRSF2","name":"serine and arginine rich splicing factor 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25567135[PMID]","hgnc":"10783","ensembl":"ENSG00000161547","omim":"600813","loci":["17q25.2"]},{"symbol":"TET2","name":"tet methylcytosine dioxygenase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25567135[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-15","source":"32398637[PMID]_30536695[PMID]_33401724[PMID]_22742558[PMID]","terms":[{"hpo":"HP:0100494","label":"Abnormal mast cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031901","label":"Increased serum mast cell beta-tryptase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012324","label":"Myeloid leukemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012325","label":"Chronic myelomonocytic leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012138","label":"Granulocytic hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031807","label":"Increased basophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011034","label":"Amyloidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005550","label":"Chronic lymphatic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Very rare (<4-1%)","criteria":null}]}}