MCID: MTC020
MIFTS: 44

Mitochondrial Complex Ii Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Mitochondrial Complex Ii Deficiency

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MalaCards based summary: Mitochondrial Complex Ii Deficiency, also known as mitochondrial respiratory chain complex ii deficiency, is related to pheochromocytoma and paraganglioma, and has symptoms including 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.

Description from OMIM:46 252011

Aliases & Classifications for Mitochondrial Complex Ii Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Mitochondrial Complex Ii Deficiency, Aliases & Descriptions:

Name: Mitochondrial Complex Ii Deficiency 42 22 46 62
Mitochondrial Respiratory Chain Complex Ii Deficiency 42 20 46
Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency 48
Complex 2 Mitochondrial Respiratory Chain Deficiency 42
 
Isolated Succinate-Ubiquinone Reductase Deficiency 48
Isolated Succinate-Coenzyme Q Reductase Deficiency 48
Isolated Succinate-Coq Reductase Deficiency 48
Succinate Coq Reductase Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48

External Ids:

OMIM46 252011
ICD10 via Orphanet26 G71.3

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
Anesthetic management for a child with mitochondrial complex II deficiency. (18613941)
2008
4
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:

64
id Symbol AA change Variation ID SNP ID
1SDHAF1p.Arg55ProVAR_058097
2SDHAF1p.Arg55ProVAR_058097
3SDHAF1p.Gly57ArgVAR_058098
4SDHAF1p.Gly57ArgVAR_058098
5SDHAp.Gly555GluVAR_016879
6SDHAp.Gly555GluVAR_016879

Clinvar genetic disease variations for Mitochondrial Complex Ii Deficiency:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Mitochondrial Complex Ii Deficiency

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Pathways for genes affiliated with Mitochondrial Complex Ii Deficiency

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Pathways related to Mitochondrial Complex Ii Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.0SDHD, SDHC, SDHA, SDHB
2
Show member pathways
8.0SDHD, SDHC, SDHA, SDHB
3
Show member pathways
Alzheimers Disease37
8.0SDHB, SDHD, SDHC, SDHA
4
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.0SDHB, SDHD, SDHC, SDHA
5
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
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/GeneDecks:

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

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.0SDHA, SDHD, SDHB, SDHC
2mitochondrial respiratory chain complex IIGO:0057497.9SDHB, SDHD, SDHC, SDHA
3mitochondrionGO:0057397.2SDHAF1, SDHB, SDHD, SDHC, SDHA

Biological processes related to Mitochondrial Complex Ii Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxidation-reduction processGO:0551149.4SDHA, SDHC
2succinate metabolic processGO:0061059.3SDHA, SDHB
3aerobic respirationGO:0090609.2SDHC, SDHB
4tricarboxylic acid cycleGO:0060998.1SDHA, SDHC, SDHD, SDHB
5respiratory electron transport chainGO:0229048.1SDHB, SDHD, SDHC, SDHA
6cellular metabolic processGO:0442378.1SDHB, SDHD, SDHC, SDHA
7small molecule metabolic processGO:0442817.7SDHB, SDHD, SDHC, SDHA

Molecular functions related to Mitochondrial Complex Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:0081779.3SDHA, SDHB
2heme bindingGO:0200379.1SDHC, SDHD
3ubiquinone bindingGO:0480398.7SDHD, SDHB
4succinate dehydrogenase activityGO:0001048.7SDHA, SDHC, SDHD
5electron carrier activityGO:0090558.4SDHB, SDHD, SDHC

Products for genes affiliated with Mitochondrial Complex Ii Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Mitochondrial Complex Ii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet