Statements (27)
| 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 |
1961
|
| https://www.w3.org/2000/01/rdf-schema#label |
MEN2A
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritanceRiskToOffspring |
50%
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10q11.2
|
| gptkbp:mutationAssociatedWith |
gptkb:RET_gene
|
| gptkbp:OMIM |
171400
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:MEN2B
gptkb:MEN1 |
| gptkbp:riskFactor |
medullary thyroid cancer
adrenal tumors hyperparathyroidism |
| gptkbp:treatment |
prophylactic thyroidectomy
surgical removal of pheochromocytoma parathyroidectomy |
| gptkbp:bfsParent |
gptkb:Multiple_Endocrine_Neoplasia_type_2A
gptkb:familial_medullary_thyroid_carcinoma gptkb:multiple_endocrine_neoplasia_type_2 |
| gptkbp:bfsLayer |
6
|