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Disease Profile
Schwannoma
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Adult
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Neurilemoma; Neurilemmoma; Neurolemmoma;
Summary
A schwannoma is a
Schwannomas usually develop in otherwise healthy people for unknown reasons.[2] In some cases, a schwannoma is caused by a genetic disorder such as neurofibromatosis 2 (NF2), schwannomatosis, or Carney complex.[1][2][4] People with these genetic disorders usually have more than one schwannoma.[1][2]
Schwannomas may be diagnosed using imaging studies. A
Symptoms
- Vestibular nerve (the nerve connecting the ear and brain)
hearing loss , dizziness, balance problems, and/or ringing or buzzing in the ear.[6] - Facial nerve facial paralysis, swallowing problems, difficulty moving the eye, facial pain, and/or loss of sense of taste.[3]
- Spinal nerve root symptoms similar to a herniated disk such as radiating arm or leg pain, numbness, tingling, and muscle weakness.[2][7]
- Arm or leg nerve localized pain, "pins and needles" sensation, carpal tunnel syndrome (if on a wrist nerve), and tarsal tunnel syndrome (if on an ankle nerve).[2]
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal temporal bone morphology | 0009911 | |
Abnormality of peripheral nervous system electrophysiology | 0030177 | |
Peripheral Schwannoma | 0009593 | |
Scleral schwannoma | 0100011 | |
Vestibular Schwannoma | 0009588 | |
30%-79% of people have these symptoms | ||
Allodynia | 0012533 | |
Facial palsy |
Bell's palsy
|
0010628 |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Vertigo |
Dizzy spell
|
0002321 |
5%-29% of people have these symptoms | ||
Abnormal esophagus morphology |
Abnormality of esophagus structure
|
0002031 |
Abnormal parotid gland morphology | 0000197 | |
Abnormality of fibula morphology |
Abnormality of the calf bone
|
0002991 |
Abnormality of the adrenal glands |
Adrenal abnormalities
|
0000834 |
Abnormality of the breast | 0000769 | |
Abnormality of the larynx | 0001600 | |
Abnormality of the liver |
Abnormal liver
Liver abnormality
[ more ] |
0001392 |
Abnormality of the twelfth cranial nerve | 0010826 | |
Acute episodes of neuropathic symptoms | 0003489 | |
Intestinal polyposis | 0200008 | |
Morphological |
0002011 | |
Nasal polyposis | 0100582 |
Cause
Schwannomas develop from the Schwann cells which normally form a protective lining around most of the nerves of the peripheral nervous system and also the nerve root. The peripheral nervous system carries signals from the brain and spinal cord (
Diagnosis
X-ray Ultrasound CT scan Magnetic resonance imaging (MRI) MRI can help determine if atumor is on the outside of a nerve or part of a nerve and if it involves other nearby structuresBiopsy of the tumor to confirm the diagnosis a biopsy involves removing a small sample of the schwannoma to be examined under the microscope
In some cases, a schwannoma is discovered incidentally (by chance) when a person has
Treatment
Treatment for a malignant schwannoma may involve both surgery and
Organizations
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.
Organizations Supporting this Disease
-
American Brain Tumor Association
8550 W. Bryn Mawr Ave, Ste 550
Chicago, IL 60631
Toll-free: 1-800-886-2282
Telephone: +1-773-577-8750
Fax: +1-773-577-8738
E-mail: info@abta.org
Website: https://www.abta.org/
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
Learn more
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.
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 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.
- 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 Schwannoma. Click on the link to view a sample search on this topic.
References
- Gilchrist JM, Donahue JE. Peripheral nerve tumors. UpToDate. Waltham, MA: UpToDate; July 3, 2017; https://www.uptodate.com/contents/peripheral-nerve-tumors.
- Dickey ID. Neurilemmoma. Medscape Reference. August 18, 2016; https://emedicine.medscape.com/article/1256405-overview#a0112.
- Schwannoma. American Brain Tumor Association (ABTA). https://www.abta.org/brain-tumor-information/types-of-tumors/schwannoma.html. Accessed 12/5/2017.
- Neurofibromatosis type 2. Genetics Home Reference (GHR). December, 2013; https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2.
- Malignant peripheral nerve sheath tumors. Mayo Clinic. October 18, 2017; https://www.mayoclinic.org/diseases-conditions/malignant-peripheral-nerve-sheath-tumors/basics/definition/con-20035841.
- Schwannoma. Cancer Research UK. October 5, 2017; https://www.cancerresearchuk.org/about-cancer/other-conditions/schwannoma/about?_ga=2.229557532.1840042620.1512496013-1131400962.1478550768.
- Herniated disk. Mayo Clinic. November 23, 2016; https://www.mayoclinic.org/diseases-conditions/herniated-disk/symptoms-causes/syc-20354095.
- Yohay K, Bergner A. Schwannomatosis. UpToDate. Waltham, MA: UpToDate; August 28, 2017; https://www.uptodate.com/contents/schwannomatosis.
- Gonzalvo A, Fowler A, Cook RJ, Little NS, Wheeler H, McDonald KL, Biggs MT. Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article.. Journal of Neurosurgery. 2011; 113(3):752-765. https://www.ncbi.nlm.nih.gov/pubmed/20932094.
- Schwannoma (Neurilemoma) in Children. Boston Children's Hospital. https://www.childrenshospital.org/az/Site1069/mainpageS1069P0.html. Accessed 11/7/2017.
- Antinheimo J, Sankila R, Carpen O, Pukkala E, Sainio M, Jaaskelainen J. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. 2000; 54(1):71-76. https://www.ncbi.nlm.nih.gov/pubmed/10636128.
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