Isolated bone marrow mastocytosis
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions low burden of neoplastic mast cells and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Isolated bone marrow mastocytosis?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Super T’s Mast Cell Foundation
To increase awareness through resources, education and support for the mast cell diseases community, while also providing financial assistance to patients.
The Mast Cell Disease Society (TMS)
We are dedicated to providing multi-faceted support to patients, families and medical professionals in our community and to leading the advancement of knowledge and research in mast cell diseases through education, advocacy and collaboration.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
My Little Sunshine Foundation
My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.
Educate and provide resources to POC with Rare Cancers
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
For a list of clinical trials in this disease area, please click here.