{"orpha":98850,"name":"Aggressive systemic mastocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98850/","orphanet_url":"https://www.orpha.net/en/disease/detail/98850","names":{"fr":{"name":"Mastocytose systémique agressive","definition":"Forme rare et agressive de mastocytose systémique avancée (advSM) caractérisée par une infiltration massive de mastocytes (MC) dans différents tissus et un dysfonctionnement des organes extracutanés, en l'absence de signe de leucémie mastocytaire ou d'autre hémopathie maligne."},"de":{"name":"Mastzell-Leukämie, agressive","definition":"Die aggressive systemische Mastozytose (ASM) ist eine schwere und seltene Form der fortgeschrittenen systemischen Mastozytose (advSM), die durch eine massive Infiltration von Mastzellen (MC) in verschiedenen Geweben und das Vorhandensein einer extrakutanen Organfunktionsstörung gekennzeichnet ist, jedoch ohne Anzeichen einer Mastzellleukämie oder einer anderen hämatologischen Neoplasie."},"es":{"name":"Mastocitosis sistémica agresiva","definition":"Es una forma agresiva y poco frecuente de mastocitosis sistémica avanzada (MSav) caracterizada por la infiltración masiva de mastocitos (MC) en diferentes tejidos y la presencia de disfunción orgánica extracutánea, pero sin evidencia de leucemia de mastocitos u otra neoplasia hematológica."},"it":{"name":"Mastocitosi sistemica aggressiva","definition":"La mastocitosi sistemica aggressive (ASM) è una forma rara di mastocitosi sistemica avanzata (advSM), caratterizzata dall'infiltrazione massiccia di mastociti (MC) in diversi tessuti, e dalla disfunzione di diversi organi extracutanei, in assenza di evidenze di una leucemia mastocitaria o di altre neoplasie ematologiche."},"nl":{"name":"Agressieve systemische mastocytose","definition":"Een zeldzame, agressieve vorm van gevorderde systemische mastocytose (advSM), gekarakteriseerd door massale infiltratie van mestcellen (MC) in verschillende weefsels en aanwezigheid van disfunctie van extracutane organen, maar zonder bewijs van mestcelleukemie of een ander hematologisch neoplasma."},"pt":{"name":"Mastocitose sistémica agressiva"},"pl":{"name":"Agresywna mastocytoza układowa"},"cs":{"name":"Agresivní systémová mastocytóza"},"uk":{"name":"Агресивний системний мастоцитоз","definition":"A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm."},"zh":{"name":"侵袭性系统性肥大细胞增多症","definition":"该病是一种罕见的侵袭性进展型系统性肥大细胞增多症(advSM)，其特征是肥大细胞(MC)在不同组织中大量浸润，并存在皮肤以外器官功能障碍，但没有肥大细胞白血病或其他血液病的证据。"},"tr":{"name":"Agresif sistemik mastositoz"}},"xrefs":[{"source":"ICD-10","code":"C96.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"870477963"},{"source":"ICD-11","code":"XH10N1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"377330181"},{"source":"MONDO","code":"0020333","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1112486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056453","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":158793,"name":"OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia","status":"inactive"}],"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":"26464169[PMID]","hgnc":"18318","ensembl":"ENSG00000171456","omim":"612990","loci":["20q11.21"]},{"symbol":"CBL","name":"Cbl proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22905207[PMID]","hgnc":"1541","ensembl":"ENSG00000110395","omim":"165360","loci":["11q23.3"]},{"symbol":"RUNX1","name":"RUNX family transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26464169[PMID]","hgnc":"10471","ensembl":"ENSG00000159216","omim":"151385","loci":["21q22.12"]},{"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":"26464169[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":"19262599[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Antenatal","Elderly","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-15","source":"30504301[PMID]_30536695[PMID]_31802761[PMID]","terms":[{"hpo":"HP:0100494","label":"Abnormal mast cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032155","label":"Abdominal cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100845","label":"Anaphylactic shock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025142","label":"Constitutional symptom","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031408","label":"Increased proportion of CD25+ mast cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031901","label":"Increased serum mast cell beta-tryptase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null}]}}