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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Mastocytosis


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 inherited?

Most cases of mastocytosis are not inherited. They occur spontaneously in families with no history of the condition and are due to somatic changes (mutations) in the KIT gene. Somatic mutations occur after conception and are only present in certain cells. Because they are not present in the germ cells (egg and sperm), they are not passed on to the next generation.[1][2]

Mastocytosis can rarely affect more than one family member. In some of these cases, the condition is inherited in an autosomal dominant manner.[3][4] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. A person with familial mastocytosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated: 6/18/2015

References
  • Mastocytosis. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/441/viewAbstract.
  • Daniel J Hogan, MD. Mastocytosis. Medscape Reference. February 2015; http://emedicine.medscape.com/article/1057932-overview.
  • Fett NM, Teng J, Longley BJ. Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. Am J Dermatopathol. February 2013; 35(1):113-116.
  • de Melo Campos P, Machado-Neto JA, Scopim-Ribeiro R, Visconte V, Tabarroki A, Duarte AS, Barra FF, Vassalo J, Rogers HJ, Lorand-Metze I, Tiu RV, Costa FF, Olalla Saad ST, Traina F. Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. Leuk Res. October 2014; 38(10):1245-1251.
Other Names for this Disease
  • Mast cell disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.