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Disease Profile
Multiple endocrine neoplasia type 2A
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.
0
Age of onset
Childhood
ICD-10
D44.8
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)
Sipple syndrome; MEN 2A; MEN-2A syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;
Summary
Multiple endocrine neoplasia type 2A (MEN 2A) is is an
Symptoms
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 | ||
Medullary thyroid carcinoma | 0002865 | |
1%-4% of people have these symptoms | ||
Chest pain | 0100749 | |
Elevated urinary dopamine | 0011979 | |
Elevated urinary epinephrine | 0003639 | |
Elevated urinary norepinephrine | 0003345 | |
Elevated urinary vanillylmandelic acid | 0011978 | |
Headache |
Headaches
|
0002315 |
0000822 | ||
Palpitations |
Missed heart beat
Skipped heart beat
[ more ] |
0001962 |
Pheochromocytoma | 0002666 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the integument | 0001574 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
0000006 | ||
Cutaneous lichen amyloidosis | 0032346 | |
Elevated calcitonin | 0003528 | |
Hyperparathyroidism |
Elevated blood parathyroid hormone level
|
0000843 |
Increased circulating cortisol level | 0003118 | |
Parathyroid adenoma | 0002897 | |
Thyroid C |
0011781 |
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Iobenguane I 123(Brand name: Adreview™) Manufactured by GE Healthcare, Inc
FDA-approved indication: To be used in the detection of primary or metastatic pheochromocytomas or neuroblastomas as an adjunct to other diagnostic tests
National Library of Medicine Drug Information Portal - Iobenguane I 131(Brand name: Azedra) Manufactured by Progenics Pharmaceuticals, Inc.
FDA-approved indication: July 2018, iobenguane I 131 (Azedra) was approved for the treatment of adult and pediatric patients 12 years and older with iobenguane scan positive, unresectable, locally advanced or metastatic pheochromocytoma or paraganglioma who require systemic anticancer therapy.
National Library of Medicine Drug Information Portal
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 Multiple Endocrine Neoplasia Support
1027 Hampshire Drive
Maryville, TN 37801
Telephone: 865-238-5842
E-mail: https://amensupport.org/contact%20us
Website: https://www.amensupport.org/ -
Association for Multiple Endocrine Neoplasia Disorders (AMEND) (UK, New Zealand, and USA)
The Warehouse
No 1 Draper Street
Southborough
Tunbridge Wells Kent TN4 0PG
United Kingdom
Telephone: + 44 (0)1892 516076
E-mail: [email protected]
Website: https://www.amend.org.uk
Social Networking Websites
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RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Multiple endocrine neoplasia type 2A. This website is maintained by the National Library of Medicine.
- 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.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
- 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 Multiple endocrine neoplasia type 2A. Click on the link to view a sample search on this topic.
References
- Multiple endocrine neoplasia. Genetics Home Reference (GHR). 2006; https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia. Accessed 2/11/2011.
- Moline J, Eng C. Multiple Endocrine Neoplasia Type 2. GeneReviews. 2010; https://www.ncbi.nlm.nih.gov/books/NBK1257/. Accessed 2/11/2011.
- Daly PA. Multiple Endocrine Neoplasia Syndromes. The Merck Manual of Medical Information, 2nd. Home Edition. 2008; https://www.merckmanuals.com/home/print/sec13/ch167/ch167a.html. Accessed 2/11/2011.
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