mastocytosis
Findings
No curated finding names mastocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.
Definition from the Mondo Disease Ontology (MONDO:0007950), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KITHGNC:6342
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: mastocytosis
- Also called
- Mast cell disease