|
gptkbp:instanceOf
|
genetic disorder
hereditary cancer syndrome
|
|
gptkbp:associatedWith
|
gptkb:pheochromocytoma
paraganglioma
|
|
gptkbp:diagnosedBy
|
genetic testing
imaging studies
biochemical testing
|
|
gptkbp:firstDescribed
|
20th century
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
paraganglioma syndromes
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:managedBy
|
lifelong surveillance
family screening
|
|
gptkbp:MeSH_ID
|
D010273
|
|
gptkbp:mutationAssociatedWith
|
gptkb:SDHAF2_gene
gptkb:SDHA_gene
gptkb:SDHB_gene
gptkb:SDHC_gene
gptkb:SDHD_gene
|
|
gptkbp:OMIM
|
168000
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:relatedTo
|
gptkb:multiple_endocrine_neoplasia_type_2
gptkb:neurofibromatosis_type_1
gptkb:von_Hippel-Lindau_disease
|
|
gptkbp:riskFactor
|
gptkb:malignant_paraganglioma
extra-adrenal paraganglioma
adrenal pheochromocytoma
head and neck paraganglioma
|
|
gptkbp:symptom
|
anxiety
headache
hypertension
sweating
palpitations
|
|
gptkbp:treatment
|
radiation therapy
chemotherapy
surgical resection
|
|
gptkbp:UMLS_CUI
|
C0349676
|
|
gptkbp:bfsParent
|
gptkb:glomus_vagale_tumor
|
|
gptkbp:bfsLayer
|
8
|