{"orpha":529468,"name":"Monoclonal mast cell activation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary MCAS","Clonal MCAS","Monoclonal MCAS"],"definition":"A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the <i>KIT</i> D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529468/","orphanet_url":"https://www.orpha.net/en/disease/detail/529468","names":{"fr":{"name":"Syndrome d'activation mastocytaire monoclonal","synonyms":["SAMA clonal","SAMA primaire"],"definition":"Maladie hématologique rare caractérisée par des symptômes d'activation mastocytaire sans manifestions cutanées, ainsi que par l'absence de critères diagnostiques de mastocytose systémique en présence de taux de tryptase inférieurs à 20 ng/ml et d'une charge mastocytaire normale ou faible. La biopsie de la moelle osseuse révèle la présence de mastocytes monoclonaux porteurs de la mutation <i>KIT</i> D816V et/ou exprimant le CD25. Les patients présentent des épisodes récurrents de bouffées vasomotrices, des maux de tête, une hypotension, des crampes abdominales, des nausées, une diarrhée, des arythmies cardiaques, une bronchoconstriction et une diathèse hémorragique, entre autres."},"de":{"name":"Mastzellaktivierungssyndrom, monoklonales","synonyms":["Monoklonales MCAS","MCAS, primär","MCAS, klonal"],"definition":"Eine seltene hämatologische Erkrankung, die durch Symptome einer Mastzellenaktivierung bei fehlenden Hautbefunden sowie durch das Fehlen diagnostischer Kriterien für eine systemische Mastozytose mit Tryptasewerten von weniger als 20 ng/ml und einer normalen bis geringen Mastzellenbelastung gekennzeichnet ist. Eine Knochenmarksbiopsie zeigt das Vorhandensein von monoklonalen Mastzellen, die die KIT D816V-Mutation tragen und/oder CD25 exprimieren. Die Patienten leiden unter anderem unter wiederkehrenden Episoden von Gesichtsröte, Kopfschmerzen, Hypotonie, Bauchkrämpfen, Übelkeit, Durchfall, Herzrhythmusstörungen, Bronchialverengung und Blutungsneigung."},"es":{"name":"Síndrome de activación mastocitaria monoclonal","synonyms":["SAM monoclonal","SAM clonal","SAM primario"],"definition":"Es una enfermedad hematológica poco frecuente caracterizada por síntomas de activación mastocitaria en ausencia de hallazgos cutáneos, así como de criterios diagnósticos de mastocitosis sistémica con niveles de triptasa inferiores a 20 ng/ml y carga de mastocitos de normal a baja. La biopsia de médula ósea revela la presencia de mastocitos monoclonales que portan la mutación KIT D816V y/o que expresan CD25. Los pacientes presentan episodios recurrentes de rubor, cefalea, hipotensión, calambres abdominales, náuseas, diarrea, arritmias cardíacas, broncoconstricción y diátesis hemorrágica, entre otros."},"it":{"name":"Sindrome da attivazione mastocitaria monoclonale","synonyms":["MCAS clonale","MCAS primaria","MCAS monoclonale"],"definition":"Si tratta di una malattia ematologica rara, caratterizzata da sintomi correlati all'attivazione dei mastociti, in assenza di sintomi cutanei e dei criteri diagnostici della mastocitosi sistemica, con livelli di triptasi inferiori a 20 ng/ml e un numero di mastociti normale o basso. La biopsia del midollo osseo evidenzia la presenza di mastociti monoclonali portatori della mutazione KIT D816V e/o che esprimono CD25. I pazienti presentano episodi ricorrenti di vampate, cefalea, ipotensione, crampi addominali, nausea, diarrea, aritmie cardiache, broncocostrizione e diatesi emorragica."},"nl":{"name":"Monoklonaal mestcelactivatiesyndroom","synonyms":["Primair MCAS","Klonaal MCAS","Monoklonaal MCAS"],"definition":"Een zeldzame hematologische aandoening, gekarakteriseerd door symptomen van mestcelactivatie in afwezigheid van cutane bevindingen, alsook afwezigheid van diagnostische criteria van systemische mastocytose met tryptasegehaltes van minder dan 20 ng/ml en normale tot lage hoeveelheid mestcellen. Biopsie van beenmerg toont de aanwezigheid van monoklonale mestcellen die de mutatie KIT-D816V dragen en/of CD25 tot expressie brengen. Patiënten presenteren zich onder meer met recidiverende episodes van blozen, hoofdpijn, hypotensie, buikkrampen, misselijkheid, diarree, hartritmestoornissen, constrictie van bronchiën, en bloedingsneiging."},"pt":{"name":"Síndrome de activação mastocitária monoclonal"},"pl":{"name":"Zespół monoklonalnej aktywacji mastocytów","synonyms":["Primary MCAS","Clonal MCAS","Monoclonal MCAS"]},"cs":{"name":"Syndrom aktivace monoklonálních žírných buněk","synonyms":["Monoklonální MCAD"]},"uk":{"name":"Синдром моноклональної активації тучних клітин","synonyms":["Моноклональний MCAD"],"definition":"A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the <i>KIT</i> D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others."},"zh":{"name":"单克隆肥大细胞激活综合征","synonyms":["单克隆肥大细胞激活障碍"]},"tr":{"name":"Monoklonal mast hücre aktivasyon sendromu","synonyms":["Monoklonal MCAD"]}},"xrefs":[{"source":"ICD-10","code":"C94.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033954","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4267893","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12980","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":68347,"name":"Tumor of hematopoietic and lymphoid tissues","classifications":[194,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24745674[PMID]"}],"phenotypes":null}