Multiple Endocrine Neoplasia type 2B
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
endocrine system
|
| gptkbp:alsoKnownAs |
gptkb:MEN_2B
|
| gptkbp:associatedWith |
RET proto-oncogene mutation
|
| gptkbp:characterizedBy |
gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma marfanoid habitus mucosal neuromas intestinal ganglioneuromatosis |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1960s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Multiple Endocrine Neoplasia type 2B
|
| gptkbp:ICD-10_code |
E31.22
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:RET_gene
|
| gptkbp:OMIM |
162300
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
early onset medullary thyroid carcinoma
|
| gptkbp:treatment |
prophylactic thyroidectomy
surgical removal of pheochromocytoma |
| gptkbp:bfsParent |
gptkb:Medullary_thyroid_cancer
|
| gptkbp:bfsLayer |
5
|