hereditary paraganglioma-pheochromocytoma syndromes
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:PGL/PCC_syndromes
|
| gptkbp:associatedWith |
hypertension
increased risk of tumors |
| gptkbp:characterizedBy |
development of paragangliomas
development of pheochromocytomas |
| gptkbp:diagnosedBy |
genetic testing
imaging studies biochemical testing |
| gptkbp:firstDescribed |
early 2000s
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary paraganglioma-pheochromocytoma syndromes
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SDHAF2_gene
gptkb:SDHA_gene gptkb:SDHB_gene gptkb:SDHC_gene gptkb:SDHD_gene |
| gptkbp:prevalence |
rare
|
| gptkbp:riskOfMalignancy |
increased in SDHB mutations
|
| gptkbp:treatment |
surgical removal of tumors
medical management of symptoms |
| gptkbp:bfsParent |
gptkb:succinate_dehydrogenase
|
| gptkbp:bfsLayer |
6
|