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multiple endocrine neoplasia type 1

Disease Summary
Associated Targets (5)
Tbio

3

Tchem

2


GARD Rare
Mondo Description Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.
Uniprot Description Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.
Disease Ontology Description An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
Mondo Term and Equivalent IDs
MONDO:0007540:  multiple endocrine neoplasia type 1
COHD:28127: 
GARD:0003829: 
ICD9:258.01: 
MESH:D018761: 
NCIT:C3225: 
Orphanet:652: 
SCTID:30664006: 
UMLS:C0025267: