MT-C2D
MCID: MTC020
MIFTS: 49

Mitochondrial Complex Ii Deficiency (MT-C2D)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare 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 seizures, ataxia and muscle weakness. 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, Antineoplastic have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are ptosis and nystagmus

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.

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.

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 37)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 31.5 CCDC127 SDHA SDHAF1 SDHB SDHD
2 gastrointestinal stromal tumor 29.6 SDHA SDHB SDHC SDHD
3 paraganglioma 29.1 SDHA SDHAF2 SDHB SDHC SDHD
4 pheochromocytoma 29.1 SDHA SDHAF2 SDHB SDHC SDHD
5 renal cell carcinoma, nonpapillary 10.1
6 myopathy 10.1
7 paragangliomas 5 10.1 CCDC127 SDHA
8 seminal vesicle tumor 10.1 SDHA SDHB
9 glomus tumor 10.0 SDHB SDHD
10 spastic quadriplegia 10.0 SDHA SDHAF1 SDHD
11 quadriplegia 10.0 SDHA SDHAF1 SDHD
12 cerebellopontine angle tumor 10.0 ENSG00000255292 SDHD
13 kearns-sayre syndrome 10.0 SDHA SDHAF1 SDHD
14 multiple endocrine neoplasia, type i 9.9 SDHB SDHD
15 mitochondrial myopathy 9.9
16 barth syndrome 9.9
17 multiple endocrine neoplasia 9.9 SDHB SDHC
18 paragangliomas 1 9.9 SDHB SDHC SDHD
19 chondroma 9.9 SDHB SDHC SDHD
20 paraganglioma and gastric stromal sarcoma 9.9 SDHB SDHC SDHD
21 sporadic pheochromocytoma 9.9 SDHB SDHC SDHD
22 neurofibromatosis, type iv, of riccardi 9.9 SDHB SDHC SDHD
23 von hippel-lindau syndrome 9.9 SDHB SDHC SDHD
24 cowden disease 9.9 SDHB SDHC SDHD
25 multiple endocrine neoplasia, type iia 9.9 SDHB SDHD
26 autosomal genetic disease 9.9 ENSG00000255292 SDHB SDHD
27 leukodystrophy 9.8
28 carney triad 9.8 SDHA SDHB SDHC SDHD
29 plethora of newborn 9.7 ENSG00000255292 SDHB SDHC SDHD
30 lymphatic system disease 9.7 ENSG00000255292 SDHB SDHC SDHD
31 extra-adrenal pheochromocytoma 9.7 SDHAF2 SDHB SDHC SDHD
32 neural crest tumor 9.6 SDHA SDHAF2 SDHB SDHC SDHD
33 persistent generalized lymphadenopathy 9.6 SDHA SDHAF2 SDHB SDHC SDHD
34 hereditary paraganglioma-pheochromocytoma syndromes 9.6 SDHA SDHAF2 SDHB SDHC SDHD
35 adrenal medulla cancer 9.5 ENSG00000255292 SDHAF2 SDHB SDHC SDHD
36 lymph node disease 9.4 ENSG00000255292 SDHA SDHAF2 SDHB SDHC SDHD
37 endocrine organ benign neoplasm 9.4 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 ptosis 32 HP:0000508
2 nystagmus 32 HP:0000639
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 spasticity 32 HP:0001257
6 muscle weakness 32 HP:0001324
7 hyperreflexia 32 HP:0001347
8 developmental regression 32 HP:0002376
9 visual impairment 32 HP:0000505
10 optic atrophy 32 HP:0000648
11 neonatal hypotonia 32 HP:0001319
12 short stature 32 HP:0004322
13 flexion contracture 32 HP:0001371
14 cognitive impairment 32 HP:0100543
15 hypertrophic cardiomyopathy 32 HP:0001639
16 myoclonus 32 HP:0001336
17 babinski sign 32 HP:0003487
18 dystonia 32 HP:0001332
19 dilated cardiomyopathy 32 HP:0001644
20 increased serum lactate 32 HP:0002151
21 ragged-red muscle fibers 32 HP:0003200
22 abnormal mitochondria in muscle tissue 32 HP:0008316
23 increased intramyocellular lipid droplets 32 HP:0012240
24 ophthalmoplegia 32 HP:0000602
25 exercise intolerance 32 HP:0003546
26 pigmentary retinopathy 32 HP:0000580
27 decreased activity of mitochondrial complex ii 32 HP:0008314
28 progressive leukoencephalopathy 32 HP:0006980
29 stress/infection-induced lactic acidosis 32 HP:0004897
30 left ventricular noncompaction 32 HP:0030682

UMLS symptoms related to Mitochondrial Complex Ii Deficiency:


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

GenomeRNAi Phenotypes related to Mitochondrial Complex Ii Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.17 SDHC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.17 SDHC SDHD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.17 SDHC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.17 SDHC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.17 SDHC SDHD

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, Antineoplastic Phase 2
3 Antimetabolites 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, Brain, Heart, Lymph Node

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 SDHA p.Gly555Glu VAR_016879 rs137852768
2 SDHAF1 p.Arg55Pro VAR_058097 rs137853193
3 SDHAF1 p.Gly57Arg VAR_058098 rs137853192
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 1158)
# 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.1660C> T (p.Arg554Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs9809219 GRCh37 Chromosome 5, 251215: 251215
6 SDHA NM_004168.3(SDHA): c.1660C> T (p.Arg554Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs9809219 GRCh38 Chromosome 5, 251100: 251100
7 SDHA NM_004168.3(SDHA): c.1571C> T (p.Ala524Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137852767 GRCh37 Chromosome 5, 251126: 251126
8 SDHA NM_004168.3(SDHA): c.1571C> T (p.Ala524Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137852767 GRCh38 Chromosome 5, 251011: 251011
9 SDHA NM_004168.3(SDHA): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs1061517 GRCh37 Chromosome 5, 218471: 218471
10 SDHA NM_004168.3(SDHA): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs1061517 GRCh38 Chromosome 5, 218356: 218356
11 SDHA NM_004168.3(SDHA): c.1664G> A (p.Gly555Glu) single nucleotide variant Pathogenic rs137852768 GRCh37 Chromosome 5, 251453: 251453
12 SDHA NM_004168.3(SDHA): c.1664G> A (p.Gly555Glu) single nucleotide variant Pathogenic rs137852768 GRCh38 Chromosome 5, 251338: 251338
13 SDHA NM_004168.3(SDHA): c.1765C> T (p.Arg589Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs387906780 GRCh37 Chromosome 5, 251554: 251554
14 SDHA NM_004168.3(SDHA): c.1765C> T (p.Arg589Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs387906780 GRCh38 Chromosome 5, 251439: 251439
15 SDHA NM_004168.3(SDHA): c.1523C> T (p.Thr508Ile) single nucleotide variant Likely benign rs151266052 GRCh37 Chromosome 5, 240563: 240563
16 SDHA NM_004168.3(SDHA): c.1523C> T (p.Thr508Ile) single nucleotide variant Likely benign rs151266052 GRCh38 Chromosome 5, 240448: 240448
17 SDHA NM_004168.3(SDHA): c.1526C> T (p.Ser509Leu) single nucleotide variant Uncertain significance rs397514541 GRCh37 Chromosome 5, 240566: 240566
18 SDHA NM_004168.3(SDHA): c.1526C> T (p.Ser509Leu) single nucleotide variant Uncertain significance rs397514541 GRCh38 Chromosome 5, 240451: 240451
19 SDHA NM_004168.3(SDHA): c.1038C> G (p.Ser346=) single nucleotide variant Benign/Likely benign rs1041949 GRCh37 Chromosome 5, 233734: 233734
20 SDHA NM_004168.3(SDHA): c.1038C> G (p.Ser346=) single nucleotide variant Benign/Likely benign rs1041949 GRCh38 Chromosome 5, 233619: 233619
21 SDHA NM_004168.3(SDHA): c.1170C> T (p.Phe390=) single nucleotide variant Benign/Likely benign rs35277230 GRCh37 Chromosome 5, 235364: 235364
22 SDHA NM_004168.3(SDHA): c.1170C> T (p.Phe390=) single nucleotide variant Benign/Likely benign rs35277230 GRCh38 Chromosome 5, 235249: 235249
23 SDHA NM_004168.3(SDHA): c.1664-8G> A single nucleotide variant Benign/Likely benign rs199790689 GRCh37 Chromosome 5, 251445: 251445
24 SDHA NM_004168.3(SDHA): c.1664-8G> A single nucleotide variant Benign/Likely benign rs199790689 GRCh38 Chromosome 5, 251330: 251330
25 SDHA NM_004168.3(SDHA): c.1680G> A (p.Thr560=) single nucleotide variant Benign/Likely benign rs1139449 GRCh37 Chromosome 5, 251469: 251469
26 SDHA NM_004168.3(SDHA): c.1680G> A (p.Thr560=) single nucleotide variant Benign/Likely benign rs1139449 GRCh38 Chromosome 5, 251354: 251354
27 SDHA NM_004168.3(SDHA): c.1752A> G (p.Ala584=) single nucleotide variant Benign/Likely benign rs13070 GRCh37 Chromosome 5, 251541: 251541
28 SDHA NM_004168.3(SDHA): c.1752A> G (p.Ala584=) single nucleotide variant Benign/Likely benign rs13070 GRCh38 Chromosome 5, 251426: 251426
29 SDHA NM_004168.3(SDHA): c.1932G> A (p.Val644=) single nucleotide variant Benign/Likely benign rs6961 GRCh37 Chromosome 5, 256472: 256472
30 SDHA NM_004168.3(SDHA): c.1932G> A (p.Val644=) single nucleotide variant Benign/Likely benign rs6961 GRCh38 Chromosome 5, 256357: 256357
31 SDHA NM_004168.3(SDHA): c.1969G> A (p.Val657Ile) single nucleotide variant Benign/Likely benign rs6962 GRCh37 Chromosome 5, 256509: 256509
32 SDHA NM_004168.3(SDHA): c.1969G> A (p.Val657Ile) single nucleotide variant Benign/Likely benign rs6962 GRCh38 Chromosome 5, 256394: 256394
33 SDHA NM_004168.3(SDHA): c.309A> G (p.Ala103=) single nucleotide variant Benign/Likely benign rs1139424 GRCh37 Chromosome 5, 224633: 224633
34 SDHA NM_004168.3(SDHA): c.309A> G (p.Ala103=) single nucleotide variant Benign/Likely benign rs1139424 GRCh38 Chromosome 5, 224518: 224518
35 SDHA NM_004168.3(SDHA): c.619A> C (p.Arg207=) single nucleotide variant Benign/Likely benign rs6555055 GRCh37 Chromosome 5, 226160: 226160
36 SDHA NM_004168.3(SDHA): c.619A> C (p.Arg207=) single nucleotide variant Benign/Likely benign rs6555055 GRCh38 Chromosome 5, 226045: 226045
37 SDHA NM_004168.3(SDHA): c.684T> C (p.Asn228=) single nucleotide variant Benign/Likely benign rs2115272 GRCh37 Chromosome 5, 228362: 228362
38 SDHA NM_004168.3(SDHA): c.684T> C (p.Asn228=) single nucleotide variant Benign/Likely benign rs2115272 GRCh38 Chromosome 5, 228247: 228247
39 SDHA NM_004168.3(SDHA): c.891T> C (p.Pro297=) single nucleotide variant Benign/Likely benign rs1126417 GRCh37 Chromosome 5, 231111: 231111
40 SDHA NM_004168.3(SDHA): c.891T> C (p.Pro297=) single nucleotide variant Benign/Likely benign rs1126417 GRCh38 Chromosome 5, 230996: 230996
41 SDHAF1 NM_001042631.2(SDHAF1): c.333C> G (p.Arg111=) single nucleotide variant Benign/Likely benign rs76336581 GRCh38 Chromosome 19, 35995607: 35995607
42 SDHAF1 NM_001042631.2(SDHAF1): c.333C> G (p.Arg111=) single nucleotide variant Benign/Likely benign rs76336581 GRCh37 Chromosome 19, 36486509: 36486509
43 SDHA NM_004168.3(SDHA): c.969C> T (p.Gly323=) single nucleotide variant Benign/Likely benign rs142849100 GRCh37 Chromosome 5, 233665: 233665
44 SDHA NM_004168.3(SDHA): c.969C> T (p.Gly323=) single nucleotide variant Benign/Likely benign rs142849100 GRCh38 Chromosome 5, 233550: 233550
45 SDHA NM_004168.3(SDHA): c.818C> T (p.Thr273Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587781720 GRCh37 Chromosome 5, 231038: 231038
46 SDHA NM_004168.3(SDHA): c.818C> T (p.Thr273Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587781720 GRCh38 Chromosome 5, 230923: 230923
47 SDHA NM_004168.3(SDHA): c.146A> G (p.Asp49Gly) single nucleotide variant Benign/Likely benign rs80207011 GRCh37 Chromosome 5, 223679: 223679
48 SDHA NM_004168.3(SDHA): c.146A> G (p.Asp49Gly) single nucleotide variant Benign/Likely benign rs80207011 GRCh38 Chromosome 5, 223564: 223564
49 SDHA NM_004168.3(SDHA): c.1776T> C (p.His592=) single nucleotide variant Benign/Likely benign rs1126538 GRCh37 Chromosome 5, 251565: 251565
50 SDHA NM_004168.3(SDHA): c.1776T> C (p.His592=) single nucleotide variant Benign/Likely benign rs1126538 GRCh38 Chromosome 5, 251450: 251450

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 9.35 ENSG00000255292 SDHA SDHB SDHC SDHD
3 mitochondrial envelope GO:0005740 9.32 ENSG00000255292 SDHD
4 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.02 ENSG00000255292 SDHA SDHB SDHC SDHD

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 heme binding GO:0020037 9.5 ENSG00000255292 SDHC SDHD
2 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 SDHA SDHC
4 succinate dehydrogenase activity GO:0000104 9.26 SDHA SDHD
5 ubiquinone binding GO:0048039 9.26 ENSG00000255292 SDHB SDHC SDHD
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 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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