hereditary paraganglioma-pheochromocytoma syndrome
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:PGL/PCC_syndrome
|
| gptkbp:associatedWith |
gptkb:head_and_neck_paragangliomas
adrenal pheochromocytomas |
| gptkbp:characterizedBy |
gptkb:paragangliomas
gptkb:pheochromocytomas |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2000s
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary paraganglioma-pheochromocytoma syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SDHAF2_gene
gptkb:SDHA_gene gptkb:SDHB_gene gptkb:SDHC_gene gptkb:SDHD_gene |
| gptkbp:OMIM |
168000
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:malignant_paraganglioma
hypertension |
| gptkbp:treatment |
surgical removal of tumors
lifelong surveillance |
| gptkbp:bfsParent |
gptkb:SDHB
gptkb:SDHD |
| gptkbp:bfsLayer |
7
|