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Other Names for this Disease
- Mast cell disease
- Cutaneous mastocytosis
- Mastocytosis cutaneous with short stature conductive hearing loss and microtia
- Systemic mastocytosis
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Your QuestionIs mastocytosis hereditary?
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In some cases, yes. 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. These mutations in the c-kit proto-oncogene are passed down through families in an autosomal dominant fashion. 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.
Last updated: 1/16/2013
- FAQ. Mastocytosis Society Canada. 2013; http://www.mastocytosis.ca/mastofaq.htm. Accessed 5/15/2013.
- Mastocytosis. National Organiation for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/441/viewAbstract. Accessed 5/15/2013.
- Krishnan K, Jaishankar D. Systemic Mastocytosis Clinical Presentation. Medscape Reference. February 2012; http://emedicine.medscape.com/article/203948-clinical#a0218. Accessed 1/16/2013.
- Mast Cell Disease. Online Mendelian Inheritance in Man (OMIM). 2012; http://omim.org/entry/154800. Accessed 5/15/2012.