Gene: SDHA

Alternate names for this Gene: CMD1GG|FP|PGL5|SDH1|SDH2|SDHF

Gene Summary: This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: succinate dehydrogenase complex flavoprotein subunit A

Type of Gene: protein-coding

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.

rs137852768 in SDHA gene and CARDIOMYOPATHY, DILATED, 1GG PMID 20551992 2010 Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

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.

rs137852767 in SDHA gene and Leigh Disease PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

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

PMID 7550341 1995 Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

rs1057523165 in SDHA gene and Mitochondrial Complex II Deficiency PMID 24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

PMID 22974104 2012 SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.

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 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.

PMID 28546994 2017 SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

PMID 25405498 2015 SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

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

PMID 23043141 2012 Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit.

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

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 23109135 2013 Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

PMID 23750034 2013 Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.

PMID 24694336 2014 Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

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.

PMID 28546994 2017 SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

PMID 29177515 2018 Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

PMID 28500238 2017 SDHA mutated paragangliomas may be at high risk of metastasis.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 22904323 2012 Structural basis for malfunction in complex II.

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

PMID 23043141 2012 Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit.

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

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

PMID 23154507 2013 Sequence diversity and conservation in factors influencing succinate dehydrogenase flavinylation.

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

PMID 23109135 2013 Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

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

PMID 23060355 2013 Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.

PMID 24886695 2014 Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

PMID 23797725 2013 Identification of succinate dehydrogenase-deficient bladder paragangliomas.

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

PMID 23750034 2013 Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 11423010 2001 Survey of human mitochondrial diseases using new genomic/proteomic tools.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 7550341 1995 Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

PMID 22677546 2012 Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.

PMID 15795514 2005 Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

PMID 27683074 2017 SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

PMID 20489732 2010 Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

PMID 16798039 2006 Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

PMID 21858060 2011 Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.

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.

rs1057523165 in SDHA gene and PARAGANGLIOMAS 5 PMID 22974104 2012 SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.

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

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

PMID 28546994 2017 SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

PMID 25405498 2015 SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

PMID 23043141 2012 Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 23109135 2013 Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

PMID 24694336 2014 Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

PMID 23750034 2013 Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.