Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Multiple_Endocrine_Neoplasia_type_2A
|
| gptkbp:associatedWith |
cutaneous lichen amyloidosis
|
| gptkbp:characterizedBy |
gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma parathyroid hyperplasia |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:John_Sipple
1961 |
| https://www.w3.org/2000/01/rdf-schema#label |
MEN 2A syndrome
|
| gptkbp:ICD-10_code |
E31.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:RET_gene
|
| gptkbp:OMIM |
171400
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
increased risk of thyroid cancer
increased risk of adrenal tumors increased risk of hyperparathyroidism |
| gptkbp:treatment |
prophylactic thyroidectomy
surgical removal of pheochromocytoma parathyroidectomy |
| gptkbp:bfsParent |
gptkb:thyroid_C-cell_tumors
|
| gptkbp:bfsLayer |
7
|