Multiple endocrine neoplasia 2 (MEN 2)/MEN 2A (Sipple syndrome).
Multiple endocrine neoplasia type 2A (MEN 2A, Sipple syndrome) is an autosomal dominant phakomatosis and is most likely a paracrinopathy. The cardinal manifestations of MEN 2A--medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism--indicate that the condition is one of the inherited cancer syndromes. Cutaneous, lichen amyloidosis-like lesions place MEN 2A among the genodermatoses. The gene of MEN 2A, designated as MEN2A, is in the pericentromeric region of chromosome 10; this allows for reliable prenatal and presymptomatic DNA diagnosis.
Kousseff
B G
BG
Division of Medical Genetics, University of South Florida, Tampa, USA.
D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology; D000686:Amyloidosis / Q000235:genetics / Q000473:pathology; D002277:Carcinoma / Q000235:genetics / Q000473:pathology; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics / Q000473:pathology; D017512:Lichenoid Eruptions / Q000235:genetics / Q000473:pathology; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics* / Q000473:pathology; D010673:Pheochromocytoma / Q000235:genetics / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology; D013964:Thyroid Neoplasms / Q000235:genetics / Q000473:pathology