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Multiple endocrine neoplasia type 2A
Disease definition
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.
ORPHA:247698
Classification level: Subtype of disorderDetailed information
Article for general public
Professionals
- Summary information
- Polski (2011, pdf)
- Review article
- English (2006)
- Clinical practice guidelines
- English (2012)
- Français (2009, pdf)
- Guidance for genetic testing
- English (2011)
- Français (2013, pdf)
- Clinical genetics review
- English (2019)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.