Multiple Endocrine Neoplasia type 2A

URI: https://gptkb.org/entity/Multiple_Endocrine_Neoplasia_type_2A
GPTKB entity
Statements (29)
Predicate Object
gptkbp:instanceOf genetic disorder
hereditary cancer syndrome
gptkbp:alsoKnownAs gptkb:MEN2A
gptkbp:associatedWith cutaneous lichen amyloidosis
gptkbp:characterizedBy gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma
parathyroid adenoma
gptkbp:diagnosedBy genetic testing
biochemical screening
gptkbp:firstDescribed gptkb:John_H._Sipple
https://www.w3.org/2000/01/rdf-schema#label Multiple Endocrine Neoplasia type 2A
gptkbp:ICD-10_code E31.2
gptkbp:inheritance autosomal dominant
gptkbp:managedBy lifelong surveillance
gptkbp:mutationAssociatedWith gptkb:RET_gene
gptkbp:OMIM 171400
gptkbp:onset childhood or early adulthood
gptkbp:prevalence rare
gptkbp:relatedTo gptkb:Multiple_Endocrine_Neoplasia_type_1
gptkb:Multiple_Endocrine_Neoplasia_type_2B
gptkbp:riskFactor increased risk of thyroid cancer
gptkbp:symptom gptkb:hypercalcemia
hypertension
thyroid nodule
gptkbp:treatment prophylactic thyroidectomy
surgical removal of pheochromocytoma
parathyroidectomy
gptkbp:bfsParent gptkb:Medullary_thyroid_cancer
gptkbp:bfsLayer 5