Multiple endocrine neoplasia type 2A

Orpha code: 247698OMIM code: 171400

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.

Disease data
Classification

Clinical subtype

Synonyms
MEN2A
MEN2A
Zespół PTC
Zespół Sipple'a
PTC syndrome
Sipple syndrome
ORPHA code
247698
OMIM code
171400
ICD10 code
D44.8
ICD11 code
2F7A.0

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl