MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Metabolism, Inborn Errors (D008661)
Parent Node:
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Mitochondrial Diseases (D028361)
..Starting node
..expand
Mitochondrial Complex II Deficiency (C565375)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7307
Name:Mitochondrial Complex II Deficiency
Definition:
Alternative IDs:OMIM:252011
ParentIDs:MESH:D008661|MESH:D028361
TreeNumbers:C16.320.565/C565375 |C18.452.648/C565375 |C18.452.660/C565375
Synonyms:Succinate CoQ Reductase Deficiency
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C565375
MeSH: C565375
OMIM: 252011;
MSeqDR LSDB: 00016;  
Genes: SDHA; SDHAF1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0008316Abnormal mitochondria in muscle tissue
4 HP:0001251Ataxia
5 HP:0003487Babinski sign
6 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
7 HP:0008314Decreased activity of mitochondrial complex II
8 HP:0002376Developmental regression
9 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
10 HP:0001332Dystonia
NAMDC:  Dystonia
11 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
12 HP:0001371Flexion contracture
13 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
14 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
15 HP:0012240Increased intramyocellular lipid droplets
16 HP:0002151Increased serum lactate
17 HP:0002352Leukoencephalopathy
18 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
19 HP:0001336Myoclonus
NAMDC:  Myoclonus
20 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
21 HP:0000639Nystagmus
22 HP:0000602Ophthalmoplegia
23 HP:0000648Optic atrophy
24 HP:0003812Phenotypic variability
25 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
26 HP:0006980Progressive leukoencephalopathy
27 HP:0000508Ptosis
NAMDC:  Ptosis
28 HP:0003200Ragged-red muscle fibers
29 HP:0001250Seizures
NAMDC:  Seizures
30 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
31 HP:0001257Spasticity
NAMDC:  Spasticity
32 HP:0004897Stress/infection-induced lactic acidosis
33 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004168.3(SDHA):c.1A>C (p.Met1Leu)6389SDHAPathogenic1061517RCV000009283; NMedGen:C1855008,OMIM:252011,ORPHA:32085218471218471NM_004168.3:c.1A>CNP_004159.2:p.Met1LeuNC_000005.9:g.218471A>COMIM Allelic Variant:600857.0003C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp)6389SDHABenign;Uncertain significance187964306RCV000216190; RCV000210499; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745218487218487NM_004168.3:c.17G>ANP_004159.2:p.Gly6Asp-C1855008 252011 Mitochondrial complex II deficiency; CN169374 not specified; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.113A>T (p.Asp38Val)6389SDHABenign34635677RCV000210535; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655223646223646NM_004168.3:c.113A>TNP_004159.2:p.Asp38Val-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr)6389SDHAUncertain significance140736646RCV000210508; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655223666223666NM_004168.3:c.133G>ANP_004159.2:p.Ala45Thr-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.136A>G (p.Lys46Glu)6389SDHALikely benign144599870RCV000210526; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655223669223669NM_004168.3:c.136A>GNP_004159.2:p.Lys46Glu-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.328G>C (p.Ala110Pro)6389SDHALikely pathogenic786205209RCV000170440; NMedGen:C1855008,OMIM:252011,ORPHA:32085225549225549NM_004168.3:c.328G>CNP_004159.2:p.Ala110ProNC_000005.9:g.225549G>C-C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg)6389SDHABenign148246073RCV000204241; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655226091226091NM_004168.3:c.550G>ANP_004159.2:p.Gly184ArgNC_000005.9:g.226091G>A-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.704T>C (p.Ile235Thr)6389SDHAUncertain significance144513891RCV000203953; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655228382228382NM_004168.3:c.704T>CNP_004159.2:p.Ile235ThrNC_000005.9:g.228382T>C-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.822C>T (p.Gly274=)6389SDHABenign34771391RCV000210510; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655231042231042NM_004168.3:c.822C>TNP_004159.2:p.Gly274=-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.969C>T (p.Gly323=)6389SDHABenign142849100RCV000129664; RCV000203785; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655233665233665NM_004168.3:c.969C>TNP_004159.2:p.Gly323=NC_000005.9:g.233665C>T-C0027672 Hereditary cancer-predisposing syndrome; C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1305G>T (p.Leu435=)6389SDHABenign35964044RCV000210529; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655236587236587NM_004168.3:c.1305G>TNP_004159.2:p.Leu435=-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1368G>A (p.Ser456=)6389SDHALikely benign149875171RCV000210523; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655236650236650NM_004168.3:c.1368G>ANP_004159.2:p.Ser456=-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1413C>T (p.Ile471=)6389SDHABenign34779890RCV000210520; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655236695236695NM_004168.3:c.1413C>TNP_004159.2:p.Ile471=-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1523C>T (p.Thr508Ile)6389SDHAPathogenic151266052RCV000032785; NMedGen:C1855008,OMIM:252011,ORPHA:32085240563240563NM_004168.3:c.1523C>TNP_004159.2:p.Thr508IleNC_000005.9:g.240563C>TOMIM Allelic Variant:600857.0006C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu)6389SDHAPathogenic397514541RCV000032786; NMedGen:C1855008,OMIM:252011,ORPHA:32085240566240566NM_004168.3:c.1526C>TNP_004159.2:p.Ser509LeuNC_000005.9:g.240566C>TOMIM Allelic Variant:600857.0007C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1549A>G (p.Lys517Glu)6389SDHALikely pathogenic786205210RCV000170440; NMedGen:C1855008,OMIM:252011,ORPHA:32085240589240589NM_004168.3:c.1549A>GNP_004159.2:p.Lys517GluNC_000005.9:g.225549G>C-C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1571C>T (p.Ala524Val)6389SDHAPathogenic137852767RCV000009282; NMedGen:C1855008,OMIM:252011,ORPHA:32085251126251126NM_004168.3:c.1571C>TNP_004159.2:p.Ala524ValNC_000005.9:g.251126C>TOMIM Allelic Variant:600857.0002C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1660C>T (p.Arg554Trp)6389SDHAPathogenic9809219RCV000009281; NMedGen:C1855008,OMIM:252011,ORPHA:32085251215251215NM_004168.3:c.1660C>TNP_004159.2:p.Arg554TrpNC_000005.9:g.251215C>TOMIM Allelic Variant:600857.0001C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1664-8G>A6389SDHABenign;Likely benign199790689RCV000118313; RCV000205034; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745251445251445NM_004168.3:c.1664-8G>ANC_000005.9:g.251445G>A-C1855008 252011 Mitochondrial complex II deficiency; CN169374 not specified; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1664G>A (p.Gly555Glu)6389SDHAPathogenic137852768RCV000009284; RCV000009286; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3150898,OMIM:6136425251453251453NM_004168.3:c.1664G>ANP_004159.2:p.Gly555GluNC_000005.9:g.251453G>AOMIM Allelic Variant:600857.0004C3150898 613642 Dilated cardiomyopathy 1GG; C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1776T>C (p.His592=)6389SDHABenign1126538RCV000130494; RCV000205292; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655251565251565NM_004168.3:c.1776T>CNP_004159.2:p.His592=NC_000005.9:g.251565T>C-C0027672 Hereditary cancer-predisposing syndrome; C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe)6389SDHABenign6960RCV000210491; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655254599254599NM_004168.3:c.1886A>TNP_004159.2:p.Tyr629Phe-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1911C>T (p.Val637=)6389SDHABenign11557098RCV000210496; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655256451256451NM_004168.3:c.1911C>TNP_004159.2:p.Val637=-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1951G>A (p.Glu651Lys)6389SDHAUncertain significance375396913RCV000204436; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:6141655256491256491NM_004168.3:c.1951G>ANP_004159.2:p.Glu651LysNC_000005.9:g.256491G>A-C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_001042631.2(SDHAF1):c.164G>C (p.Arg55Pro)644096SDHAF1Pathogenic137853193RCV000000458; NMedGen:C1855008,OMIM:252011,ORPHA:3208193648634036486340NM_001042631.2:c.164G>CNP_001036096.1:p.Arg55ProNC_000019.9:g.36486340G>COMIM Allelic Variant:612848.0002C1855008 252011 Mitochondrial complex II deficiency
NM_001042631.2(SDHAF1):c.169G>C (p.Gly57Arg)644096SDHAF1Pathogenic137853192RCV000000457; NMedGen:C1855008,OMIM:252011,ORPHA:3208193648634536486345NM_001042631.2:c.169G>CNP_001036096.1:p.Gly57ArgNC_000019.9:g.36486345G>COMIM Allelic Variant:612848.0001C1855008 252011 Mitochondrial complex II deficiency
NM_003002.3(SDHD):c.205G>A (p.Glu69Lys)6392SDHDPathogenic202198133RCV000144171; NMedGen:C1855008,OMIM:252011,ORPHA:320811111959626111959626NM_003002.3:c.205G>ANP_002993.1:p.Glu69LysNC_000011.9:g.111959626G>AOMIM Allelic Variant:602690.0029C1855008 252011 Mitochondrial complex II deficiency
NM_003002.3(SDHD):c.275A>G (p.Asp92Gly)6392SDHDPathogenic786205436RCV000186596; RCV000171136; NMedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C353224311111959696111959696NM_003002.3:c.275A>GNP_002993.1:p.Asp92GlyNC_000011.9:g.111959696A>GOMIM Allelic Variant:602690.0031C3532243 Fatal infantile mitochondrial cardiomyopathy; C1855008 252011 Mitochondrial complex II deficiency
NM_003002.3(SDHD):c.479G>T (p.Ter160Leu)6392SDHDPathogenic201372601RCV000144172; NMedGen:C1855008,OMIM:252011,ORPHA:320811111965693111965693NM_003002.3:c.479G>TNP_002993.1:p.Ter160LeuNC_000011.9:g.111965693G>TOMIM Allelic Variant:602690.0030C1855008 252011 Mitochondrial complex II deficiency
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000073578 MSeqDR Search EnsemblSDHA1324succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]00016
ENSG00000205138 MSeqDR Search EnsemblSDHAF1122succinate dehydrogenase complex assembly factor 1 [Source:HGNC Symbol;Acc:33867]00016
ENSG00000204370 MSeqDR Search EnsemblSDHD103succinate dehydrogenase complex, subunit D, integral membrane protein [Source:HGNC Symbol;Acc:10683]00016

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