Condition: Hereditary Paraganglioma-Pheochromocytoma Syndrome


rs387906651 in LOC100506321;MAX gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 21685915 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

PMID 22452945 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

PMID 27838885 2017 Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

rs1555340550 in MAX gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 1459463 1992 Biphasic effect of Max on Myc cotransformation activity and dependence on amino- and carboxy-terminal Max functions.

PMID 7630640 1995 Determination of sequences responsible for the differential regulation of Myc function by delta Max and Max.

PMID 1730412 1992 Max: functional domains and interaction with c-Myc.

PMID 22452945 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

PMID 21685915 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

PMID 23551045 2013 Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.

rs113560320 in SDHAF2 gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 6286462 1982 Genetic aspects of nonchromaffin paraganglioma.

PMID 6264239 1981 Familial non-chromaffinic paragangliomas (glomus tumors) : clinical aspects.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 21224366 2011 SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.

PMID 19628817 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

PMID 20071235 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

PMID 28099933 2017 Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

PMID 26096992 2015 Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

rs397516833 in SDHB gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 18382370 2008 Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

PMID 17200167 2007 Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

PMID 19522823 2009 SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.

PMID 16405730 2006 Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 20505258 2010 Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 12807974 2003 Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.

PMID 11404820 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 15988378 2005 Genetic testing for pheochromocytoma-associated syndromes.

PMID 22517557 2012 A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 24466223 2014 Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

PMID 25972245 2015 Structural and functional consequences of succinate dehydrogenase subunit B mutations.

PMID 28324028 2017 A Duodenal SDH-Deficient Gastrointestinal Stromal Tumor in a Patient With a Germline SDHB Mutation.

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 12618761 2003 Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

PMID 21909610 2011 [The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].

PMID 21934479 2011 Renal tumors associated with germline SDHB mutation show distinctive morphology.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 18419787 2008 Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 24523625 2014 Pheochromocytoma and paraganglioma syndromes: genetics and management update.

PMID 26719882 2016 SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

PMID 18362451 2008 R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis.

PMID 24659481 2014 Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma.

PMID 17102082 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

PMID 12364472 2002 Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

PMID 16916404 2006 Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma.

PMID 19001511 2009 Rationale and evidence for sunitinib in the treatment of malignant paraganglioma/pheochromocytoma.

PMID 28374168 2017 SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

PMID 26173966 2016 Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 25371406 2015 Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 15987702 2005 Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

PMID 29386252 2018 Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

PMID 25683602 2015 Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

PMID 26916530 2016 SDH Subunit Mutation Status in Saliva: Genetic Testing in Patients with Pheochromocytoma.

PMID 17884808 2007 Succinate inhibition of alpha-ketoglutarate-dependent enzymes in a yeast model of paraganglioma.

PMID 16288654 2005 The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

PMID 16912137 2006 High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

rs201286421 in SDHC gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 21106325 2011 Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.

PMID 24781345 2014 Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.

PMID 24758179 2014 The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

PMID 22868853 2012 Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 25394176 2015 Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 27700540 2016 A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 24423348 2014 Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 24523625 2014 Pheochromocytoma and paraganglioma syndromes: genetics and management update.

PMID 25024072 2016 Vascular Endothelial Growth Factor Receptor-Targeted Therapy in Succinate Dehydrogenase C Kidney Cancer.

rs104894304 in SDHD gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 17102085 2006 SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 24436918 2013 Genetic testing in head and neck paraganglioma: who, what, and why?

PMID 25695889 2015 Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

rs80338842 in TIMM8B;SDHD gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 26096992 2015 Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

rs121908821 in TMEM127 gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 20154675 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

PMID 25800244 2015 Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.

PMID 22419703 2012 TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

PMID 26960314 2016 Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

rs121908816 in TMEM127;CIAO1 gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 22541004 2012 Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.

PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.