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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Mast cell disease
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Your Question

Is mastocytosis hereditary?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is mastocytosis an inherited disorder?

In some cases, yes.[1][2][3][4] A genetic mutation resulting in the over-activation of the receptor for mast cell growth factor (c-kit) has been identified in the abnormal mast cells in many adults with mastocytosis.[1][2][3] These mutations in the c-kit proto-oncogene are passed down through families in an autosomal dominant fashion.[4] In some families, members may have differing disorders which are all impacted or worsened by irregular mast cell activity. It is expected that with future studies, more genetic markers will be identified.[1]
Last updated: 1/16/2013