This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormal eosinophil morphology||0001879|
|Nausea and vomiting||0002017|
|30%-79% of people have these symptoms|
Low number of red blood cells or hemoglobin
|Impaired temperature sensation||
Abnormality of temperature sensation
Loss of temperature sensation[ more ]
Decreased blood leukocyte number
Low white blood cell count[ more ]
Low platelet count
|5%-29% of people have these symptoms|
|Abnormality of the gastric mucosa||
Abnormality of the mucous membrane layer of stomach
Accumulation of fluid in the abdomen
|Bone marrow hypocellularity||
Bone marrow failure
Scar tissue replaces healthy tissue in the liver
Swollen lymph nodes
Muscle pain[ more ]
Breakdown of bone
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Increased spleen size
|Sudden cardiac death||
Premature sudden cardiac death
|Percent of people who have these symptoms is not available through HPO|
Water retention[ more ]
|Telangiectasia macularis eruptiva perstans||0007583|
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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses of SM include all the other causes of mast cell activation syndromes (MCAS): primary (clonal, but not fulfilling SM diagnostic criteria) MCAS; secondary MCAS where an IgE-dependent allergy (most cases) or another reactive inflammatory disease process is present (and is considered to be the causative etiology); and idiopathic MCAS where neither clonal MC nor an IgE-dependent allergy or another underlying condition/disease can be documented. As well, differential diagnoses include other forms of mastocytosis (cutaneous mastocytosis, mast cell sarcoma), endocrine disorders (adrenal tumors, VIPoma,, Zollinger-Ellison syndrome), some gastrointestinal pathologies, allergies, other myeloproliferative diseases that affect bone marrow, histiocytosis, hypereosinophilic syndrome and Waldenström macroglobulinemia.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My 22 year old son was diagnosed with urticaria pigmentosa in infancy and except for skin spots he is largely symptom-free. Because of increasing skin spots and elevated serum tryptase, he had bone marrow tests and was diagnosed with indolent systemic mastocytosis (ISM). He does not have other health problems and is very active. Will his symptoms worsen systemically with time or is it possible for ISM patients to remain symptom-free for life? See answer
My mother is suffering from systemic mastocytosis. What types of treatment are available for this condition? See answer
I need information on the initial tests that can be done to rule out systemic mastocytosis. What are they and should they be done after an episode or can they be done at any time? See answer
Can heat and/or humidity affect systemic mastocytosis? See answer