MEN1 syndrome

GPTKB entity

Statements (34)
Predicate Object
gptkbp:instanceOf genetic disorder
endocrine neoplasia syndrome
gptkbp:alsoKnownAs gptkb:Multiple_Endocrine_Neoplasia_type_1
gptkbp:associatedWith gptkb:gastrinoma
gptkb:insulinoma
gptkb:carcinoid_tumors
lipomas
hyperparathyroidism
prolactinoma
adrenocortical tumors
angiofibromas
collagenomas
non-functioning pituitary adenoma
gptkbp:diagnosedBy genetic testing
biochemical testing
gptkbp:feature tumors of anterior pituitary gland
tumors of pancreatic islet cells
tumors of parathyroid glands
gptkbp:firstDescribed 1954
Paul Wermer
gptkbp:geneProduct menin
https://www.w3.org/2000/01/rdf-schema#label MEN1 syndrome
gptkbp:inheritance autosomal dominant
gptkbp:inheritanceRiskToOffspring 50%
gptkbp:locatedOnChromosome gptkb:chromosome_11q13
gptkbp:mutationAssociatedWith gptkb:MEN1_gene
gptkbp:OMIM 131100
gptkbp:prevalence 1 in 30,000
gptkbp:riskOfMalignancy increased
gptkbp:treatment surgical removal of tumors
medical management of hormone excess
gptkbp:bfsParent gptkb:insulinoma
gptkb:VIPomas
gptkbp:bfsLayer 6