multiple endocrine neoplasia type 2

URI: https://gptkb.org/entity/multiple_endocrine_neoplasia_type_2
GPTKB entity
Statements (29)
Predicate Object
gptkbp:instanceOf genetic disorder
hereditary cancer syndrome
gptkbp:alsoKnownAs gptkb:MEN2
gptkbp:associatedWith marfanoid habitus
mucosal neuromas
gptkbp:characterizedBy gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma
parathyroid adenoma
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed gptkb:John_Sipple
https://www.w3.org/2000/01/rdf-schema#label multiple endocrine neoplasia type 2
gptkbp:ICD-10_code E31.2
gptkbp:inheritance autosomal dominant
gptkbp:managedBy endocrinologist
gptkbp:mutationAssociatedWith gptkb:RET_gene
gptkbp:OMIM 171400
gptkbp:onset childhood or early adulthood
gptkbp:prevalence rare
gptkbp:riskFactor increased risk of adrenal tumors
increased risk of medullary thyroid cancer
increased risk of parathyroid disease
gptkbp:subspecies gptkb:MEN2A
gptkb:MEN2B
gptkb:familial_medullary_thyroid_carcinoma
gptkbp:treatment prophylactic thyroidectomy
surgical removal of pheochromocytoma
gptkbp:bfsParent gptkb:RET
gptkb:RET_proto-oncogene
gptkbp:bfsLayer 5