Multiple endocrine neoplasia type 2

URI: https://gptkb.org/entity/Multiple_endocrine_neoplasia_type_2
GPTKB entity
Statements (50)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:abbreviation gptkb:MEN2
gptkbp:associatedWith marfanoid habitus (MEN2B)
mucosal neuromas (MEN2B)
gptkbp:characterizedBy gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma
parathyroid adenoma
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed 1961
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:prevalence rare
gptkbp:riskFactor gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma
parathyroid hyperplasia
gptkbp:subspecies gptkb:MEN2A
gptkb:MEN2B
gptkb:familial_medullary_thyroid_carcinoma
gptkbp:symptom gptkb:depression
gptkb:hypercalcemia
nausea
vomiting
diarrhea
anxiety
abdominal pain
constipation
fatigue
headache
hypertension
loss of appetite
fractures
weight loss
muscle weakness
sweating
bone pain
palpitations
muscle cramps
irritability
neck mass
kidney stones
polydipsia
polyuria
gptkbp:treatment prophylactic thyroidectomy
surgical removal of pheochromocytoma
gptkbp:bfsParent gptkb:chromosome_10
gptkbp:bfsLayer 6