MCID: MTC020
MIFTS: 42

Mitochondrial Complex Ii Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Mitochondrial Complex Ii Deficiency

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Mitochondrial Complex Ii Deficiency:

Name: Mitochondrial Complex Ii Deficiency 46 9 42 22 61
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency 42 48
Mitochondrial Respiratory Chain Complex Ii Deficiency 46 42
Complex 2 Mitochondrial Respiratory Chain Deficiency 42 20
 
Isolated Succinate-Coenzyme Q Reductase Deficiency 42 48
Isolated Succinate-Ubiquinone Reductase Deficiency 42 48
Isolated Succinate-Coq Reductase Deficiency 42 48
Succinate Coq Reductase Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
isolated mitochondrial respiratory chain complex ii deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM46 252011
Orphanet48 3208
ICD10 via Orphanet26 G71.3

Summaries for Mitochondrial Complex Ii Deficiency

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OMIM:46 Complex II, also known as succinate dehydrogenase (EC 1.3.5.1), is part of the mitochondrial respiratory chain.... (252011) more...

MalaCards based summary: Mitochondrial Complex Ii Deficiency, also known as isolated mitochondrial respiratory chain complex ii deficiency, is related to pheochromocytoma and paraganglioma, and has symptoms including autosomal recessive inheritance, seizures and ataxia. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHAF1 (succinate dehydrogenase complex assembly factor 1), and among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds thenoyltrifluoroacetone and Ubiquinol 8 have been mentioned in the context of this disorder.

Related Diseases for Mitochondrial Complex Ii Deficiency

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



Diseases related to mitochondrial complex ii deficiency

Symptoms for Mitochondrial Complex Ii Deficiency

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Symptoms by clinical synopsis from OMIM:

252011

Clinical features from OMIM:

252011

HPO human phenotypes related to Mitochondrial Complex Ii Deficiency:

(show all 27)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 ataxia HP:0001251
4 spasticity HP:0001257
5 neonatal hypotonia HP:0001319
6 muscle weakness HP:0001324
7 dystonia HP:0001332
8 myoclonus HP:0001336
9 hyperreflexia HP:0001347
10 flexion contracture HP:0001371
11 hypertrophic cardiomyopathy HP:0001639
12 dilated cardiomyopathy HP:0001644
13 increased serum lactate HP:0002151
14 leukoencephalopathy HP:0002352
15 developmental regression HP:0002376
16 ragged-red muscle fibers HP:0003200
17 babinski sign HP:0003487
18 exercise intolerance HP:0003546
19 infantile onset HP:0003593
20 phenotypic variability HP:0003812
21 short stature HP:0004322
22 stress/infection-induced lactic acidosis HP:0004897
23 progressive leukoencephalopathy HP:0006980
24 decreased activity of mitochondrial complex ii HP:0008314
25 abnormal mitochondria in muscle tissue HP:0008316
26 increased intramyocellular lipid droplets HP:0012240
27 cognitive impairment HP:0100543

Drugs & Therapeutics for Mitochondrial Complex Ii Deficiency

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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Complex Ii Deficiency

Search NIH Clinical Center for Mitochondrial Complex Ii Deficiency

Genetic Tests for Mitochondrial Complex Ii Deficiency

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Genetic tests related to Mitochondrial Complex Ii Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Respiratory Chain Complex Ii Deficiency20
2 Mitochondrial Complex Ii Deficiency22

Anatomical Context for Mitochondrial Complex Ii Deficiency

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Animal Models for Mitochondrial Complex Ii Deficiency or affiliated genes

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Publications for Mitochondrial Complex Ii Deficiency

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Articles related to Mitochondrial Complex Ii Deficiency:

idTitleAuthorsYear
1
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. (24367056)
2013
2
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. (22972948)
2012
3
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

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

63
id Symbol AA change Variation ID SNP ID
1SDHAF1p.Arg55ProVAR_058097
2SDHAF1p.Gly57ArgVAR_058098
3SDHAp.Gly555GluVAR_016879

Clinvar genetic disease variations for Mitochondrial Complex Ii Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SDHANM_004168.3(SDHA): c.1523C> T (p.Thr508Ile)single nucleotide variantPathogenicrs151266052GRCh37Chr 5, 240563: 240563
2SDHANM_004168.3(SDHA): c.1526C> T (p.Ser509Leu)single nucleotide variantPathogenicrs397514541GRCh37Chr 5, 240566: 240566
3SDHAF1NM_001042631.2(SDHAF1): c.169G> C (p.Gly57Arg)single nucleotide variantPathogenicrs137853192GRCh37Chr 19, 36486345: 36486345
4SDHAF1NM_001042631.2(SDHAF1): c.164G> C (p.Arg55Pro)single nucleotide variantPathogenicrs137853193GRCh37Chr 19, 36486340: 36486340
5SDHANM_004168.3(SDHA): c.1664G> A (p.Gly555Glu)single nucleotide variantPathogenicrs137852768GRCh37Chr 5, 251453: 251453

Expression for genes affiliated with Mitochondrial Complex Ii Deficiency

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

Pathways for genes affiliated with Mitochondrial Complex Ii Deficiency

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.0SDHA, SDHC, SDHD, SDHB
2
Show member pathways
8.0SDHB, SDHD, SDHC, SDHA
3
Show member pathways
Alzheimers Disease36
8.0SDHB, SDHD, SDHC, SDHA
4
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.0SDHB, SDHD, SDHC, SDHA
5
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
8.0SDHA, SDHC, SDHD, SDHB

Compounds for genes affiliated with Mitochondrial Complex Ii Deficiency

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
See all sources

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

(show all 20)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1110.5SDHB, SDHA
2Ubiquinol 8249.4SDHA, SDHB
3nad+449.3SDHA, SDHB
4glyceraldehyde 3-phosphate449.3SDHA, SDHB
5mibg449.1SDHB, SDHD
6catecholamine448.9SDHB, SDHD
7heme28 24 1110.8SDHC, SDHD
8fumarate44 119.7SDHB, SDHC, SDHD
9Fumaric acid248.3SDHD, SDHA, SDHC, SDHB
10iron-sulfur448.3SDHC, SDHD, SDHB, SDHA
11succinic acid28 24 1110.3SDHB, SDHA, SDHC, SDHD
12ubiquinone448.3SDHB, SDHD, SDHC, SDHA
13Sulfide248.3SDHA, SDHB, SDHD, SDHC
14QH2248.3SDHA, SDHC, SDHD, SDHB
15Ubiquinone Q2248.3SDHA, SDHC, SDHB, SDHD
16Ubiquinone Q1248.3SDHB, SDHD, SDHC, SDHA
17succinate448.2SDHA, SDHC, SDHB, SDHD
18FAD248.2SDHB, SDHD, SDHA, SDHC
19iron44 249.2SDHD, SDHC, SDHA, SDHB
20oxygen44 249.1SDHB, SDHA, SDHD, SDHC

GO Terms for genes affiliated with Mitochondrial Complex Ii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057438.0SDHA, SDHC, SDHD, SDHB
2mitochondrial respiratory chain complex IIGO:00057497.9SDHA, SDHC, SDHD, SDHB
3mitochondrionGO:00057397.2SDHB, SDHD, SDHC, SDHA, SDHAF1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxidation-reduction processGO:00551149.4SDHA, SDHC
2succinate metabolic processGO:00061059.3SDHA, SDHB
3aerobic respirationGO:00090609.2SDHC, SDHB
4tricarboxylic acid cycleGO:00060998.1SDHA, SDHC, SDHD, SDHB
5respiratory electron transport chainGO:00229048.1SDHB, SDHD, SDHC, SDHA
6cellular metabolic processGO:00442378.1SDHB, SDHD, SDHC, SDHA
7small molecule metabolic processGO:00442817.7SDHB, SDHD, SDHC, SDHA

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.3SDHA, SDHB
2heme bindingGO:00200379.1SDHC, SDHD
3ubiquinone bindingGO:00480398.7SDHD, SDHB
4succinate dehydrogenase activityGO:00001048.7SDHA, SDHC, SDHD
5electron carrier activityGO:00090558.4SDHB, SDHD, SDHC

Sources for Mitochondrial Complex Ii Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet