aggressive systemic mastocytosis
ORPHA: 98850
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with aggressive systemic mastocytosis, sourced from HPO and Orphanet clinical annotations.
Abnormal mast cell morphologyOsteoporosisPruritusHepatosplenomegalyWeight lossIncreased total leukocyte countDiarrheaMalabsorptionAbdominal painAnorexiaHypotensionBone painLymphadenopathyArthralgiaElevated circulating alkaline phosphatase concentrationFatigueConstitutional symptomFlushingIncreased proportion of CD25+ mast cellsElevated total serum tryptaseAbdominal crampsAnaphylactic shockUrticariaPortal hypertensionDecreased liver functionAscitesThrombocytopeniaDecreased total neutrophil countPancytopeniaAnemiaLeukemiaHypersplenismGastrointestinal hemorrhagePathologic fractureOsteolysisHematological neoplasmAbnormal blistering of the skinAbnormal skin morphologyMaculopapular exanthema
Classification & Codes
Orphanet Code
ORPHA:98850aggressive systemic mastocytosis
| Orphanet | ORPHA:98850 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO