Mast cell activation syndrome

Summary

Mast cell activation syndrome (MONDO:0100004) is a disease and 6 clinical trials. Top therapeutic interventions include masitinib. A subtype of leukocyte disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	mast cell activation syndrome
Mondo ID	MONDO:0100004
MeSH	D000090267
UMLS	C5200989
MedGen	1698540
GARD	0012981
Is cancer (heuristic)	no

Also known as: disorder of mast cell activation · MACS · mast cell activation disease

Disease family

This is a subtype of leukocyte disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › leukocyte disorder › mast cell activation syndrome

Related subtypes (22): human monocytic ehrlichiosis, B cell deficiency, leukopenia, B-cell neoplasm, dendritic cell sarcoma, human granulocytic anaplasmosis, T-cell leukemia, phagocyte bactericidal dysfunction, EBV-positive T-cell lymphoproliferative disorder of childhood, small intestinal enteropathy-associated T-cell lymphoma, pituitary gland basophil adenoma, leukostasis, mastocytosis, hereditary neutrophilia, Pelger-Huet anomaly, functional neutrophil defect, thymoma type B, POEMS syndrome, Langerhans cell histiocytosis, subcutaneous panniculitis-like T-cell lymphoma, eosinophil peroxidase deficiency, eosinophil disorder

Subtypes (3): monoclonal mast cell activation syndrome, secondary mast cell activation syndrome, idiopathic mast cell activation syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE2	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05449444	PHASE2	UNKNOWN	Masitinib for the Treatment of Severe Mast Cell Activation Syndrome
NCT05652907	PHASE2	TERMINATED	Safety and Efficacy of FSD201 for the Treatment of Chronic Pain Associated With Idiopathic MCAS (MCAD)
NCT04806620	Not specified	RECRUITING	Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research
NCT03406325	Not specified	COMPLETED	Mast Cell Activation Test in Allergic Disease
NCT04978740	Not specified	COMPLETED	Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)
NCT07454395	Not specified	SUSPENDED	Is Swimming a More Tolerable Form of Movement for Individuals With Myalgic Encephalomyelitis/ Chronic Fatigue Syndrome?

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
MASITINIB	3	1