MCID: MTC020
MIFTS: 47

Mitochondrial Complex Ii Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Ii Deficiency

MalaCards integrated aliases for Mitochondrial Complex Ii Deficiency:

Name: Mitochondrial Complex Ii Deficiency 57 12 53 75 37 29 13 6 44 15 73
Mitochondrial Respiratory Chain Complex Ii Deficiency 57 53 40
Succinate Coq Reductase Deficiency 57 53 75
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency 12 59
Complex 2 Mitochondrial Respiratory Chain Deficiency 53 75
Isolated Succinate-Coenzyme Q Reductase Deficiency 12 59
Isolated Succinate-Ubiquinone Reductase Deficiency 12 59
Isolated Succinate-Coq Reductase Deficiency 12 59
Complex Ii Mitochondrial Respiratory Chain Deficiency 75
Sdh-Defective Infantile Leukoencephalopathy 75
Succinate-Coenzyme Q Reductase Deficiency 73
Succinate Dehydrogenase Deficiency 53
Mt-C2d 75

Characteristics:

Orphanet epidemiological data:

59
isolated succinate-coq reductase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in first year of life


HPO:

32
mitochondrial complex ii deficiency:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Ii Deficiency

NIH Rare Diseases : 53 Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.

MalaCards based summary : Mitochondrial Complex Ii Deficiency, also known as mitochondrial respiratory chain complex ii deficiency, is related to leigh syndrome and gastrointestinal stromal tumor, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways/superpathways are Citrate cycle (TCA cycle) and Oxidative phosphorylation. The drugs Azacitidine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are visual impairment and ptosis

OMIM : 57 Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013). (252011)

UniProtKB/Swiss-Prot : 75 Mitochondrial complex II deficiency: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome.

Disease Ontology : 12 A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.

Related Diseases for Mitochondrial Complex Ii Deficiency

Diseases related to Mitochondrial Complex Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 30.2 CCDC127 SDHA SDHAF1 SDHB SDHD
2 gastrointestinal stromal tumor 29.1 SDHA SDHB SDHC SDHD
3 paraganglioma 27.6 SDHA SDHAF2 SDHB SDHC SDHD
4 pheochromocytoma 27.5 SDHA SDHAF2 SDHB SDHC SDHD
5 paragangliomas 5 10.3 CCDC127 SDHA
6 seminal vesicle tumor 10.2 SDHA SDHB
7 glomus tumor 10.1 SDHB SDHD
8 multiple endocrine neoplasia, type iia 10.0 SDHB SDHD
9 cerebellopontine angle tumor 10.0 ENSG00000255292 SDHD
10 kearns-sayre syndrome 9.9 SDHA SDHAF1 SDHD
11 leukodystrophy 9.7
12 encephalomyopathy 9.7
13 paragangliomas 1 9.7 SDHB SDHC SDHD
14 chondroma 9.7 SDHB SDHC SDHD
15 paraganglioma and gastric stromal sarcoma 9.7 SDHB SDHC SDHD
16 sporadic pheochromocytoma 9.7 SDHB SDHC SDHD
17 multiple endocrine neoplasia 9.7 SDHB SDHC
18 neurofibromatosis, type iv, of riccardi 9.6 SDHB SDHC SDHD
19 von hippel-lindau syndrome 9.6 SDHB SDHC SDHD
20 multiple endocrine neoplasia, type i 9.6 SDHB SDHD
21 cowden disease 9.6 SDHB SDHC SDHD
22 carney triad 9.4 SDHA SDHB SDHC SDHD
23 lymphatic system disease 9.1 ENSG00000255292 SDHB SDHC SDHD
24 endocrine gland cancer 9.1 ENSG00000255292 SDHB SDHC SDHD
25 adrenal medulla cancer 9.0 SDHAF2 SDHB SDHC SDHD
26 extra-adrenal pheochromocytoma 9.0 SDHAF2 SDHB SDHC SDHD
27 phaeochromocytoma 9.0 SDHAF2 SDHB SDHC SDHD
28 neural crest tumor 8.7 SDHA SDHAF2 SDHB SDHC SDHD
29 persistent generalized lymphadenopathy 8.7 SDHA SDHAF2 SDHB SDHC SDHD
30 hereditary paraganglioma-pheochromocytoma syndromes 8.7 SDHA SDHAF2 SDHB SDHC SDHD
31 lymph node disease 8.1 ENSG00000255292 SDHA SDHAF2 SDHB SDHC SDHD

Graphical network of the top 20 diseases related to Mitochondrial Complex Ii Deficiency:



Diseases related to Mitochondrial Complex Ii Deficiency

Symptoms & Phenotypes for Mitochondrial Complex Ii Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
optic atrophy
ophthalmoplegia
pigmentary retinopathy
more
Muscle Soft Tissue:
muscle weakness
exercise intolerance
ragged red fibers seen on muscle biopsy
hypotonia, neonatal
abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy
more
Cardiovascular Heart:
hypertrophic cardiomyopathy
dilated cardiomyopathy
left ventricular noncompaction

Growth Other:
poor growth

Laboratory Abnormalities:
decreased activity of mitochondrial complex ii (succinate dehydrogenase)
mildly increased serum lactate

Neurologic Central Nervous System:
seizures
ataxia
spasticity
hyperreflexia
cognitive impairment
more
Growth Height:
short stature

Skeletal:
joint contractures

Metabolic Features:
lactic acidosis may occur with stress or infection


Clinical features from OMIM:

252011

Human phenotypes related to Mitochondrial Complex Ii Deficiency:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 ptosis 32 HP:0000508
3 pigmentary retinopathy 32 HP:0000580
4 ophthalmoplegia 32 HP:0000602
5 nystagmus 32 HP:0000639
6 optic atrophy 32 HP:0000648
7 seizures 32 HP:0001250
8 ataxia 32 HP:0001251
9 spasticity 32 HP:0001257
10 neonatal hypotonia 32 HP:0001319
11 muscle weakness 32 HP:0001324
12 dystonia 32 HP:0001332
13 myoclonus 32 HP:0001336
14 hyperreflexia 32 HP:0001347
15 flexion contracture 32 HP:0001371
16 hypertrophic cardiomyopathy 32 HP:0001639
17 dilated cardiomyopathy 32 HP:0001644
18 increased serum lactate 32 HP:0002151
19 developmental regression 32 HP:0002376
20 ragged-red muscle fibers 32 HP:0003200
21 babinski sign 32 HP:0003487
22 exercise intolerance 32 HP:0003546
23 short stature 32 HP:0004322
24 stress/infection-induced lactic acidosis 32 HP:0004897
25 progressive leukoencephalopathy 32 HP:0006980
26 decreased activity of mitochondrial complex ii 32 HP:0008314
27 abnormal mitochondria in muscle tissue 32 HP:0008316
28 increased intramyocellular lipid droplets 32 HP:0012240
29 left ventricular noncompaction 32 HP:0030682
30 cognitive impairment 32 HP:0100543

UMLS symptoms related to Mitochondrial Complex Ii Deficiency:


ataxia, muscle spasticity, myoclonus, ophthalmoplegia, seizures, muscle weakness

Drugs & Therapeutics for Mitochondrial Complex Ii Deficiency

Drugs for Mitochondrial Complex Ii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
2 Antimetabolites Phase 2
3 Antimetabolites, Antineoplastic Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)

Search NIH Clinical Center for Mitochondrial Complex Ii Deficiency

Cochrane evidence based reviews: mitochondrial complex ii deficiency

Genetic Tests for Mitochondrial Complex Ii Deficiency

Genetic tests related to Mitochondrial Complex Ii Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Ii Deficiency 29 SDHA SDHAF1 SDHD

Anatomical Context for Mitochondrial Complex Ii Deficiency

MalaCards organs/tissues related to Mitochondrial Complex Ii Deficiency:

41
Kidney, Liver, Heart, Brain

Publications for Mitochondrial Complex Ii Deficiency

Articles related to Mitochondrial Complex Ii Deficiency:

# Title Authors Year
1
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. ( 26008905 )
2015
2
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. ( 24367056 )
2013
3
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. ( 22972948 )
2012
4
Anesthetic management for a child with mitochondrial complex II deficiency. ( 18613941 )
2008
5
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. ( 16288654 )
2005

Variations for Mitochondrial Complex Ii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Ii Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 SDHAF1 p.Arg55Pro VAR_058097 rs137853193
2 SDHAF1 p.Gly57Arg VAR_058098 rs137853192
3 SDHA p.Gly555Glu VAR_016879 rs137852768
4 SDHD p.Glu69Lys VAR_074105 rs202198133
5 SDHD p.Asp92Gly VAR_074106 rs786205436

ClinVar genetic disease variations for Mitochondrial Complex Ii Deficiency:

6
(show top 50) (show all 954)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHAF1 NM_001042631.2(SDHAF1): c.169G> C (p.Gly57Arg) single nucleotide variant Pathogenic rs137853192 GRCh37 Chromosome 19, 36486345: 36486345
2 SDHAF1 NM_001042631.2(SDHAF1): c.169G> C (p.Gly57Arg) single nucleotide variant Pathogenic rs137853192 GRCh38 Chromosome 19, 35995443: 35995443
3 SDHAF1 NM_001042631.2(SDHAF1): c.164G> C (p.Arg55Pro) single nucleotide variant Pathogenic rs137853193 GRCh37 Chromosome 19, 36486340: 36486340
4 SDHAF1 NM_001042631.2(SDHAF1): c.164G> C (p.Arg55Pro) single nucleotide variant Pathogenic rs137853193 GRCh38 Chromosome 19, 35995438: 35995438
5 SDHA NM_004168.3(SDHA): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs1061517 GRCh37 Chromosome 5, 218471: 218471
6 SDHA NM_004168.3(SDHA): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs1061517 GRCh38 Chromosome 5, 218356: 218356
7 SDHA NM_004168.3(SDHA): c.1664G> A (p.Gly555Glu) single nucleotide variant Pathogenic rs137852768 GRCh37 Chromosome 5, 251453: 251453
8 SDHA NM_004168.3(SDHA): c.1664G> A (p.Gly555Glu) single nucleotide variant Pathogenic rs137852768 GRCh38 Chromosome 5, 251338: 251338
9 SDHA NM_004168.3(SDHA): c.1526C> T (p.Ser509Leu) single nucleotide variant Pathogenic rs397514541 GRCh37 Chromosome 5, 240566: 240566
10 SDHA NM_004168.3(SDHA): c.1526C> T (p.Ser509Leu) single nucleotide variant Pathogenic rs397514541 GRCh38 Chromosome 5, 240451: 240451
11 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
12 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh38 Chromosome 5, 223509: 223509
13 SDHD NM_003002.3(SDHD): c.205G> A (p.Glu69Lys) single nucleotide variant Likely pathogenic rs202198133 GRCh38 Chromosome 11, 112088902: 112088902
14 SDHD NM_003002.3(SDHD): c.205G> A (p.Glu69Lys) single nucleotide variant Likely pathogenic rs202198133 GRCh37 Chromosome 11, 111959626: 111959626
15 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh37 Chromosome 11, 111965693: 111965693
16 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh38 Chromosome 11, 112094969: 112094969
17 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Uncertain significance rs200397144 GRCh38 Chromosome 5, 251427: 251427
18 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Uncertain significance rs200397144 GRCh37 Chromosome 5, 251542: 251542
19 SDHD NM_003002.3(SDHD): c.275A> G (p.Asp92Gly) single nucleotide variant Pathogenic rs786205436 GRCh38 Chromosome 11, 112088972: 112088972
20 SDHD NM_003002.3(SDHD): c.275A> G (p.Asp92Gly) single nucleotide variant Pathogenic rs786205436 GRCh37 Chromosome 11, 111959696: 111959696
21 SDHA NM_004168.3(SDHA): c.328G> C (p.Ala110Pro) single nucleotide variant no interpretation for the single variant rs786205209 GRCh38 Chromosome 5, 225434: 225434
22 SDHA NM_004168.3(SDHA): c.328G> C (p.Ala110Pro) single nucleotide variant no interpretation for the single variant rs786205209 GRCh37 Chromosome 5, 225549: 225549
23 SDHA NM_004168.3(SDHA): c.1549A> G (p.Lys517Glu) single nucleotide variant Uncertain significance rs786205210 GRCh38 Chromosome 5, 240474: 240474
24 SDHA NM_004168.3(SDHA): c.1549A> G (p.Lys517Glu) single nucleotide variant Uncertain significance rs786205210 GRCh37 Chromosome 5, 240589: 240589
25 SDHA NM_004168.3(SDHA): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs371056571 GRCh37 Chromosome 5, 251146: 251146
26 SDHA NM_004168.3(SDHA): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs371056571 GRCh38 Chromosome 5, 251031: 251031
27 SDHA NM_004168.3(SDHA): c.994C> G (p.Pro332Ala) single nucleotide variant Uncertain significance rs373509391 GRCh37 Chromosome 5, 233690: 233690
28 SDHA NM_004168.3(SDHA): c.994C> G (p.Pro332Ala) single nucleotide variant Uncertain significance rs373509391 GRCh38 Chromosome 5, 233575: 233575
29 SDHA NM_004168.3(SDHA): c.550G> A (p.Gly184Arg) single nucleotide variant Benign/Likely benign rs148246073 GRCh38 Chromosome 5, 225976: 225976
30 SDHA NM_004168.3(SDHA): c.550G> A (p.Gly184Arg) single nucleotide variant Benign/Likely benign rs148246073 GRCh37 Chromosome 5, 226091: 226091
31 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh37 Chromosome 5, 228382: 228382
32 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh38 Chromosome 5, 228267: 228267
33 SDHA NM_004168.3(SDHA): c.1951G> A (p.Glu651Lys) single nucleotide variant Uncertain significance rs375396913 GRCh38 Chromosome 5, 256376: 256376
34 SDHA NM_004168.3(SDHA): c.1951G> A (p.Glu651Lys) single nucleotide variant Uncertain significance rs375396913 GRCh37 Chromosome 5, 256491: 256491
35 SDHA NM_004168.3(SDHA): c.830C> T (p.Thr277Met) single nucleotide variant Uncertain significance rs367721665 GRCh37 Chromosome 5, 231050: 231050
36 SDHA NM_004168.3(SDHA): c.830C> T (p.Thr277Met) single nucleotide variant Uncertain significance rs367721665 GRCh38 Chromosome 5, 230935: 230935
37 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh38 Chromosome 5, 223551: 223551
38 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh37 Chromosome 5, 223666: 223666
39 SDHA NM_004168.3(SDHA): c.1368G> A (p.Ser456=) single nucleotide variant Likely benign rs149875171 GRCh38 Chromosome 5, 236535: 236535
40 SDHA NM_004168.3(SDHA): c.1368G> A (p.Ser456=) single nucleotide variant Likely benign rs149875171 GRCh37 Chromosome 5, 236650: 236650
41 SDHA NM_004168.3(SDHA): c.1886A> T (p.Tyr629Phe) single nucleotide variant Benign/Likely benign rs6960 GRCh38 Chromosome 5, 254484: 254484
42 SDHA NM_004168.3(SDHA): c.1886A> T (p.Tyr629Phe) single nucleotide variant Benign/Likely benign rs6960 GRCh37 Chromosome 5, 254599: 254599
43 SDHA NM_004168.3(SDHA): c.136A> G (p.Lys46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144599870 GRCh38 Chromosome 5, 223554: 223554
44 SDHA NM_004168.3(SDHA): c.136A> G (p.Lys46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs144599870 GRCh37 Chromosome 5, 223669: 223669
45 SDHA NM_004168.3(SDHA): c.17G> A (p.Gly6Asp) single nucleotide variant Benign/Likely benign rs187964306 GRCh38 Chromosome 5, 218372: 218372
46 SDHA NM_004168.3(SDHA): c.17G> A (p.Gly6Asp) single nucleotide variant Benign/Likely benign rs187964306 GRCh37 Chromosome 5, 218487: 218487
47 SDHA NM_004168.3(SDHA): c.822C> T (p.Gly274=) single nucleotide variant Benign/Likely benign rs34771391 GRCh38 Chromosome 5, 230927: 230927
48 SDHA NM_004168.3(SDHA): c.822C> T (p.Gly274=) single nucleotide variant Benign/Likely benign rs34771391 GRCh37 Chromosome 5, 231042: 231042
49 SDHA NM_004168.3(SDHA): c.1305G> T (p.Leu435=) single nucleotide variant Benign/Likely benign rs35964044 GRCh38 Chromosome 5, 236472: 236472
50 SDHA NM_004168.3(SDHA): c.1305G> T (p.Leu435=) single nucleotide variant Benign/Likely benign rs35964044 GRCh37 Chromosome 5, 236587: 236587

Expression for Mitochondrial Complex Ii Deficiency

Search GEO for disease gene expression data for Mitochondrial Complex Ii Deficiency.

Pathways for Mitochondrial Complex Ii Deficiency

Pathways related to Mitochondrial Complex Ii Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Citrate cycle (TCA cycle) hsa00020
2 Oxidative phosphorylation hsa00190

GO Terms for Mitochondrial Complex Ii Deficiency

Cellular components related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD
2 mitochondrial inner membrane GO:0005743 9.55 ENSG00000255292 SDHA SDHB SDHC SDHD
3 mitochondrial envelope GO:0005740 9.32 ENSG00000255292 SDHD
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.02 ENSG00000255292 SDHA SDHB SDHC SDHD
5 respiratory chain complex II GO:0045273 8.96 SDHB SDHC

Biological processes related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.65 ENSG00000255292 SDHA SDHB SDHC SDHD
2 electron transport chain GO:0022900 9.5 SDHA SDHB SDHC
3 aerobic respiration GO:0009060 9.43 SDHB SDHC
4 tricarboxylic acid cycle GO:0006099 9.43 ENSG00000255292 SDHA SDHAF2 SDHB SDHC SDHD
5 respiratory electron transport chain GO:0022904 9.4 SDHA SDHB
6 succinate metabolic process GO:0006105 9.37 SDHA SDHB
7 mitochondrial respiratory chain complex II assembly GO:0034553 9.16 SDHAF1 SDHAF2
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.02 ENSG00000255292 SDHA SDHAF2 SDHC SDHD

Molecular functions related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.56 SDHA SDHB SDHC SDHD
2 heme binding GO:0020037 9.5 ENSG00000255292 SDHC SDHD
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 SDHA SDHC
4 ubiquinone binding GO:0048039 9.33 ENSG00000255292 SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 9.13 SDHA SDHC SDHD
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.02 ENSG00000255292 SDHA SDHB SDHC SDHD

Sources for Mitochondrial Complex Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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