Mastocytosis: genes and variants
Mastocytosis is linked to 1 analyzed protein (KIT). 1 DNA variants are known to cause it; 20 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Mastocytosis
KIT: Mast/stem cell growth factor receptor Kit
Stem-cell-factor signaling through this pathway supports hematopoietic progenitors, mast cells, melanocytes, and germ cells. Activating variants drive gastrointestinal stromal tumors, systemic mastocytosis, and other malignancies, whereas loss-of-function variants can cause piebaldism.
1 disease-causing and 20 uncertain variants in KIT are linked to Mastocytosis.
Known disease-causing variants in Mastocytosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KIT E839K | 839 | Protein kinase | Disease-causing |
Same protein, different disease
- Gastrointestinal stromal tumor is also caused by KIT variants; they fall mostly in different places as the Mastocytosis variants (23 disease-causing).
- Piebaldism is also caused by KIT variants; they fall mostly in different places as the Mastocytosis variants (8 disease-causing).
- Cutaneous mastocytosis is also caused by KIT variants; they fall mostly in different places as the Mastocytosis variants (3 disease-causing).
Diseases related to Mastocytosis
- Gastrointestinal stromal tumor, also linked to KIT
- Ovarian cancer, also linked to KIT
- Acute myeloid leukemia, also linked to KIT
- Colorectal cancer, also linked to KIT
- Piebaldism, also linked to KIT
- Hepatocellular carcinoma, also linked to KIT
- Renal cell carcinoma, also linked to KIT
- Cutaneous mastocytosis, also linked to KIT
- Malignant tumor of testis, also linked to KIT
- Germ cell tumor of testis, also linked to KIT
Frequently asked questions
Which genes are linked to Mastocytosis?
In CATVariant, Mastocytosis is linked to 1 analyzed protein: KIT (Mast/stem cell growth factor receptor Kit).
How many genetic variants are linked to Mastocytosis?
21 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 20 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mastocytosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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