1-888-205-2311 Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
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Questions about rare diseases?
Disease at a Glance
Summary
Mastocytosis occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. Mast cells are a type of white blood cell in the immune system. Mast cells are responsible for protecting the body from infection and releasing chemicals to create inflammatory responses. The signs and symptoms of Mastocytosis vary based on which parts of the body are affected. There are two main forms of Mastocytosis. Cutaneous Mastocytosis only affects the skin and is more common in children. Systemic Mastocytosis affects more than one part of the body and is more common in adults. Mastocytosis is usually caused by changes (known as variationss) in the KIT gene. Most cases are caused by somatic genetic changes, meaning they only occur in certain parts of the body and are not inherited or passed on to the next generation. However, mastocystosis can rarely affect more than one person in a family. Mastocysotis may be suspected when a doctor sees a person has signs and symptoms of the disease. Diagnosis may be confirmed with a skin biopsy or bone marrow biopsy.
Summary
Mastocytosis occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. Mast cells are a type of white blood cell in the immune system. Mast cells are responsible for protecting the body from infection and releasing chemicals to create inflammatory responses. The signs and symptoms of Mastocytosis vary based on which parts of the body are affected. There are two main forms of Mastocytosis. Cutaneous Mastocytosis only affects the skin and is more common in children. Systemic Mastocytosis affects more than one part of the body and is more common in adults. Mastocytosis is usually caused by changes (known as variationss) in the KIT gene. Most cases are caused by somatic genetic changes, meaning they only occur in certain parts of the body and are not inherited or passed on to the next generation. However, mastocystosis can rarely affect more than one person in a family. Mastocysotis may be suspected when a doctor sees a person has signs and symptoms of the disease. Diagnosis may be confirmed with a skin biopsy or bone marrow biopsy.
Resource(s) for Medical Professionals and Scientists on This Disease:
- Orphanet provides GARD with information for this disease.
About Mastocytosis
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
- Population Estimate:Fewer than 50,000 people in the U.S. have thisdisease.
- Symptoms:May start to appear at any time in life.
- Cause:This disease is caused by uncontrolled cell growth and division that damages tissue.
- Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
- Categories:Cancer
Blood Diseases
When Do Symptoms of Mastocytosis Begin?
Symptoms of this disease may start to appear at any time in life.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
Symptoms may start to appear at any time in life.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others, and you should consult your primary care provider (PCP) for more information.
This list does not include all possible symptoms related to this disease, but they may include:
This list does not include all possible symptoms related to this disease, but they may include:
Skin System Skin System
26 Symptoms
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List View
Body Systems
26 Symptoms
Causes
This section is currently in development.
Advocacy and Support Groups
How Can Patient Organizations Help?
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
- Ways to connect to others and share personal stories
- Easy-to-read information
- Up-to-date treatment and research information
- Patient registries
- Lists of specialists or specialty centers
- Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Patient Organizations
6 Organizations
Organization Name
Who They Serve
Helpful Links
Country
People With
Mastocytosis
Helpful Links
Country
United States
People With
Mastocytosis
Helpful Links
Country
United Kingdom
Participating in Clinical Studies
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
- Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
- Observational studies involve recording changes over time among a specific group of people in their natural settings.
Why Participate in Clinical Studies?
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
- Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
- Observational studies involve recording changes over time among a specific group of people in their natural settings.
Why Participate in Clinical Studies?
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases
Information Center
Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
(Except: Federal Holidays)
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases
Information Center
Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
Please allow 2 to 10 business days for us to respond.
Getting a Diagnosis
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) are used to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
- Reference: Access aggregated data from Orphanet at Orphadata . Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.
- Reference: OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine , Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.
- Reference: Human Phenotype Ontology Downloads Kohler S, Gargano M. Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207-D1217.
- Reference: MedGen Data Downloads and FTP
- Reference: MedLinePlus
- Reference: Data from the Newborn Screening Code and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange. J Am Med Inform Assoc. 2010 Jan-Feb; 17(1):13-8
- The National Library of Medicine. (2023). Unified Medical Language System (UMLS).
- National Academies of Sciences, Engineering, and Medicine. (2015). Improving Diagnosis in Health Care . Washington, DC: The National Academies Press.
- U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2016). Health Literacy Online: A Guide for Simplifying the User Experience.
Last Updated: November 2023