Other Names for this Disease
- Systemic 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.
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. 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. Treatment is based on the signs and symptoms present in each person.Systemic mastocytosis (SM) is a form of
Last updated: 6/17/2015
- Mastocytosis. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/441/viewAbstract.
- Koyamangalath Krishnan, MD, FRCP, FACP. Systemic Mastocytosis. Medscape Reference. March 2015; http://emedicine.medscape.com/article/203948-overview#showall.
- 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.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.