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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Mitochondrial Complex II Deficiency (C565375)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Friedreich Ataxia (D005621) 6
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847)
..Hypotonia-Cystinuria Syndrome (C564710)
..Kearns-Sayre Syndrome (D007625) 1
..Leigh Disease (D007888) 12
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Complex III Deficiency (C565128)
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Mitochondrial Phosphate Carrier Deficiency (C563665)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353)
..Wolfram Syndrome 2 (C565733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, 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;

Genes: SDHA; SDHAF1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0008316	Abnormal mitochondria in muscle tissue
4	HP:0001251	Ataxia
5	HP:0003487	Babinski sign
6	HP:0100543	Cognitive impairment
7	HP:0008314	Decreased activity of mitochondrial complex II
8	HP:0002376	Developmental regression
9	HP:0001644	Dilated cardiomyopathy
10	HP:0001332	Dystonia
11	HP:0003546	Exercise intolerance
12	HP:0001371	Flexion contracture
13	HP:0001347	Hyperreflexia
14	HP:0001639	Hypertrophic cardiomyopathy
15	HP:0012240	Increased intramyocellular lipid droplets
16	HP:0002151	Increased serum lactate
17	HP:0030682	Left ventricular noncompaction
18	HP:0001324	Muscle weakness
19	HP:0001336	Myoclonus
20	HP:0001319	Neonatal hypotonia
21	HP:0000639	Nystagmus
22	HP:0000602	Ophthalmoplegia
23	HP:0000648	Optic atrophy
24	HP:0003812	Phenotypic variability
25	HP:0000580	Pigmentary retinopathy
26	HP:0006980	Progressive leukoencephalopathy
27	HP:0000508	Ptosis
28	HP:0003200	Ragged-red muscle fibers
29	HP:0001250	Seizure
30	HP:0004322	Short stature
31	HP:0001257	Spasticity
32	HP:0004897	Stress/infection-induced lactic acidosis
33	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004168.3(SDHA):c.1A>C (p.Met1Leu)	6389	SDHA	Pathogenic	1061517	RCV000009283;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	5	218471	218471	NM_004168.3:c.1A>C	NP_004159.2:p.Met1Leu	NC_000005.9:g.218471A>C	OMIM Allelic Variant:600857.0003	C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp)	6389	SDHA	Benign;Uncertain significance	187964306	RCV000216190; RCV000210499;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165; MedGen:CN169374	5	218487	218487	NM_004168.3:c.17G>A	NP_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)	6389	SDHA	Benign	34635677	RCV000210535;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	223646	223646	NM_004168.3:c.113A>T	NP_004159.2:p.Asp38Val		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr)	6389	SDHA	Uncertain significance	140736646	RCV000210508;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	223666	223666	NM_004168.3:c.133G>A	NP_004159.2:p.Ala45Thr		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.136A>G (p.Lys46Glu)	6389	SDHA	Likely benign	144599870	RCV000210526;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	223669	223669	NM_004168.3:c.136A>G	NP_004159.2:p.Lys46Glu		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.328G>C (p.Ala110Pro)	6389	SDHA	Likely pathogenic	786205209	RCV000170440;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	5	225549	225549	NM_004168.3:c.328G>C	NP_004159.2:p.Ala110Pro	NC_000005.9:g.225549G>C	-	C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg)	6389	SDHA	Benign	148246073	RCV000204241;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	226091	226091	NM_004168.3:c.550G>A	NP_004159.2:p.Gly184Arg	NC_000005.9:g.226091G>A	-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.704T>C (p.Ile235Thr)	6389	SDHA	Uncertain significance	144513891	RCV000203953;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	228382	228382	NM_004168.3:c.704T>C	NP_004159.2:p.Ile235Thr	NC_000005.9:g.228382T>C	-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.822C>T (p.Gly274=)	6389	SDHA	Benign	34771391	RCV000210510;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	231042	231042	NM_004168.3:c.822C>T	NP_004159.2:p.Gly274=		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.969C>T (p.Gly323=)	6389	SDHA	Benign	142849100	RCV000129664; RCV000203785;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	233665	233665	NM_004168.3:c.969C>T	NP_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=)	6389	SDHA	Benign	35964044	RCV000210529;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	236587	236587	NM_004168.3:c.1305G>T	NP_004159.2:p.Leu435=		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1368G>A (p.Ser456=)	6389	SDHA	Likely benign	149875171	RCV000210523;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	236650	236650	NM_004168.3:c.1368G>A	NP_004159.2:p.Ser456=		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1413C>T (p.Ile471=)	6389	SDHA	Benign	34779890	RCV000210520;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	236695	236695	NM_004168.3:c.1413C>T	NP_004159.2:p.Ile471=		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1523C>T (p.Thr508Ile)	6389	SDHA	Pathogenic	151266052	RCV000032785;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	5	240563	240563	NM_004168.3:c.1523C>T	NP_004159.2:p.Thr508Ile	NC_000005.9:g.240563C>T	OMIM Allelic Variant:600857.0006	C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu)	6389	SDHA	Pathogenic	397514541	RCV000032786;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	5	240566	240566	NM_004168.3:c.1526C>T	NP_004159.2:p.Ser509Leu	NC_000005.9:g.240566C>T	OMIM Allelic Variant:600857.0007	C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1549A>G (p.Lys517Glu)	6389	SDHA	Likely pathogenic	786205210	RCV000170440;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	5	240589	240589	NM_004168.3:c.1549A>G	NP_004159.2:p.Lys517Glu	NC_000005.9:g.225549G>C	-	C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1571C>T (p.Ala524Val)	6389	SDHA	Pathogenic	137852767	RCV000009282;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	5	251126	251126	NM_004168.3:c.1571C>T	NP_004159.2:p.Ala524Val	NC_000005.9:g.251126C>T	OMIM Allelic Variant:600857.0002	C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1660C>T (p.Arg554Trp)	6389	SDHA	Pathogenic	9809219	RCV000009281;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	5	251215	251215	NM_004168.3:c.1660C>T	NP_004159.2:p.Arg554Trp	NC_000005.9:g.251215C>T	OMIM Allelic Variant:600857.0001	C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1664-8G>A	6389	SDHA	Benign;Likely benign	199790689	RCV000118313; RCV000205034;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165; MedGen:CN169374	5	251445	251445	NM_004168.3:c.1664-8G>A		NC_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)	6389	SDHA	Pathogenic	137852768	RCV000009284; RCV000009286;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3150898,OMIM:613642	5	251453	251453	NM_004168.3:c.1664G>A	NP_004159.2:p.Gly555Glu	NC_000005.9:g.251453G>A	OMIM Allelic Variant:600857.0004	C3150898 613642 Dilated cardiomyopathy 1GG; C1855008 252011 Mitochondrial complex II deficiency
NM_004168.3(SDHA):c.1776T>C (p.His592=)	6389	SDHA	Benign	1126538	RCV000130494; RCV000205292;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	251565	251565	NM_004168.3:c.1776T>C	NP_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)	6389	SDHA	Benign	6960	RCV000210491;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	254599	254599	NM_004168.3:c.1886A>T	NP_004159.2:p.Tyr629Phe		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1911C>T (p.Val637=)	6389	SDHA	Benign	11557098	RCV000210496;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	256451	256451	NM_004168.3:c.1911C>T	NP_004159.2:p.Val637=		-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_004168.3(SDHA):c.1951G>A (p.Glu651Lys)	6389	SDHA	Uncertain significance	375396913	RCV000204436;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3279992,OMIM:614165	5	256491	256491	NM_004168.3:c.1951G>A	NP_004159.2:p.Glu651Lys	NC_000005.9:g.256491G>A	-	C1855008 252011 Mitochondrial complex II deficiency; C3279992 614165 Paragangliomas 5
NM_001042631.2(SDHAF1):c.164G>C (p.Arg55Pro)	644096	SDHAF1	Pathogenic	137853193	RCV000000458;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	19	36486340	36486340	NM_001042631.2:c.164G>C	NP_001036096.1:p.Arg55Pro	NC_000019.9:g.36486340G>C	OMIM Allelic Variant:612848.0002	C1855008 252011 Mitochondrial complex II deficiency
NM_001042631.2(SDHAF1):c.169G>C (p.Gly57Arg)	644096	SDHAF1	Pathogenic	137853192	RCV000000457;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	19	36486345	36486345	NM_001042631.2:c.169G>C	NP_001036096.1:p.Gly57Arg	NC_000019.9:g.36486345G>C	OMIM Allelic Variant:612848.0001	C1855008 252011 Mitochondrial complex II deficiency
NM_003002.3(SDHD):c.205G>A (p.Glu69Lys)	6392	SDHD	Pathogenic	202198133	RCV000144171;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	11	111959626	111959626	NM_003002.3:c.205G>A	NP_002993.1:p.Glu69Lys	NC_000011.9:g.111959626G>A	OMIM Allelic Variant:602690.0029	C1855008 252011 Mitochondrial complex II deficiency
NM_003002.3(SDHD):c.275A>G (p.Asp92Gly)	6392	SDHD	Pathogenic	786205436	RCV000186596; RCV000171136;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208; MedGen:C3532243	11	111959696	111959696	NM_003002.3:c.275A>G	NP_002993.1:p.Asp92Gly	NC_000011.9:g.111959696A>G	OMIM Allelic Variant:602690.0031	C3532243 Fatal infantile mitochondrial cardiomyopathy; C1855008 252011 Mitochondrial complex II deficiency
NM_003002.3(SDHD):c.479G>T (p.Ter160Leu)	6392	SDHD	Pathogenic	201372601	RCV000144172;	N	MedGen:C1855008,OMIM:252011,ORPHA:3208	11	111965693	111965693	NM_003002.3:c.479G>T	NP_002993.1:p.Ter160Leu	NC_000011.9:g.111965693G>T	OMIM Allelic Variant:602690.0030	C1855008 252011 Mitochondrial complex II deficiency