Disease: Pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients. 30352407 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease. 12618761 2003
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Only SDHD and SDHB have so far been implicated in the pathogenesis of pheochromocytoma. 15883706 2005
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 19825962 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. 11605159 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540 2003
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). 18362451 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE The present findings for the first time demonstrate a significantly increased succinate-to-fumarate ratio in SDHB/D-related PGLs and thus suggest this ratio may be used as a new metabolic marker for the detection of SDHB/D-related PHEOs/PGLs. 24189137 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Human genetic studies have now shown that 25-30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of malignancy and a poor prognosis in PH/PGL patients.3. 18307724 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not detected in 24 sporadic phaeochromocytoma tumours. 11323050 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations. 19522821 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Here we explore the underlying molecular basis of three cases of paraganglioma or pheochromocytoma that came to our attention due to apparent maternal transmission of an SDHD mutation. 25300370 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 21937622 2011
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 23902947 2013
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease CLINVAR Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 22025150 2011
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. 20098451 2010
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. 17973943 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 CausalMutation disease CLINVAR Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. 18826997 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 25405498 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Allelic losses of the SDHB gene were present in two phaeochromocytoma and one insulinoma cases and allelic losses of SDHD were present in one phaeochromocytoma case. 18510707 2008
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 31492822 2020
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 GeneticVariation disease BEFREE Succinate dehydrogenase complex, subunit D (SDHD) mutations cause pheochromocytoma/paraganglioma syndrome. 23493432 2013
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease BEFREE Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127. 31705439 2019