Variant: rs142441643

present in Gene: SDHA present in Chromosome: 5 Position on Chromosome: 223509 Alleles of this Variant: C/T

rs142441643 in SDHA gene and Abnormal behavior PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

rs142441643 in SDHA gene and Attention deficit hyperactivity disorder PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

rs142441643 in SDHA gene and Global developmental delay PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

rs142441643 in SDHA gene and Mitochondrial Complex II Deficiency PMID 26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

PMID 23174939 2013 SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

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

PMID 24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

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

PMID 21752896 2011 SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.

PMID 22955521 2013 Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.

PMID 21505157 2011 SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.

rs142441643 in SDHA gene and Neoplastic Syndromes, Hereditary PMID 26113600 2015 15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26490314 2016 In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.

PMID 28819017 2017 Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.

PMID 23730622 2013 Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.

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

PMID 27895137 2017 Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma.

PMID 23252569 2013 Expression of IGF-1 receptor in KIT/PDGF receptor-α wild-type gastrointestinal stromal tumors with succinate dehydrogenase complex dysfunction.

PMID 23174939 2013 SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.

PMID 24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

PMID 21752896 2011 SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.

PMID 22955521 2013 Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.

PMID 21505157 2011 SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.

rs142441643 in SDHA gene and Overgrowth PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

rs142441643 in SDHA gene and PARAGANGLIOMAS 5 PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

PMID 21752896 2011 SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.

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

PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 21505157 2011 SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.

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

PMID 23174939 2013 SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.

PMID 24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

PMID 22955521 2013 Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.