Multiple endocrine neoplasia type 2A

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Multiple endocrine neoplasia type 2A

Synonyms: MEN2A | PTC syndrome | Sipple syndrome

A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and less frequently cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Multiple endocrine neoplasia type 2A?

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Advocacy Organizations

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.

SALUS

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Clinical Trials

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