Multiple endocrine neoplasia type 1

URI: https://gptkb.org/entity/Multiple_endocrine_neoplasia_type_1
GPTKB entity
Statements (42)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:abbreviation gptkb:MEN1
gptkbp:alsoKnownAs Wermer syndrome
gptkbp:associatedWith gptkb:gastrinoma
gptkb:insulinoma
gptkb:carcinoid_tumors
adrenal tumors
hyperparathyroidism
prolactinoma
gptkbp:characterizedBy tumors of anterior pituitary gland
tumors of pancreatic islet cells
tumors of parathyroid glands
gptkbp:diagnosedBy genetic testing
biochemical testing
gptkbp:firstDescribed 1954
Paul Wermer
https://www.w3.org/2000/01/rdf-schema#label Multiple endocrine neoplasia type 1
gptkbp:ICD-10_code E31.2
gptkbp:inheritance autosomal dominant
gptkbp:locatedOnChromosome gptkb:chromosome_11q13
gptkbp:mutationAssociatedWith gptkb:MEN1_gene
gptkbp:OMIM 131100
gptkbp:onset childhood
adulthood
gptkbp:prevalence 1 in 30,000
gptkbp:product menin
gptkbp:registration International MEN1 Registry
gptkbp:riskOfMalignancy increased
gptkbp:screeningRecommendedFor first-degree relatives
gptkbp:symptom gptkb:hypoglycemia
gptkb:galactorrhea
abdominal pain
weight loss
headaches
kidney stones
visual disturbances
peptic ulcers
amenorrhea
gptkbp:treatment surgical removal of tumors
medical management of hormone excess
gptkbp:bfsParent gptkb:Neuroendocrine_Tumor
gptkbp:bfsLayer 6