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Genetic and Rare Diseases Information Center (GARD)

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Systemic mastocytosis


Other Names for this Disease
  • SMCD
  • Systemic mast cell disease
Related Diseases
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Overview

Systemic mastocytosis (SM) is a form of mastocytosis in which mast cells accumulate in internal organs such as the liver, spleen, bone marrow, and small intestines. The signs and symptoms vary based on which part(s) of the body are affected. SM is typically diagnosed in adults. It is usually caused by changes (mutations) in the KIT gene.[1][2] Most cases are caused by somatic mutations which are not inherited or passed on to the next generation; however, it can rarely affect more than one family member.[3] Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 6/17/2015

References

  1. Mastocytosis. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/441/viewAbstract.
  2. Koyamangalath Krishnan, MD, FRCP, FACP. Systemic Mastocytosis. Medscape Reference. March 2015; http://emedicine.medscape.com/article/203948-overview#showall.
  3. 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.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Systemic mastocytosis.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Systemic mastocytosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SMCD
  • Systemic mast cell disease
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.