MCID: MTC020
MIFTS: 42

Mitochondrial Complex Ii Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Mitochondrial Complex Ii Deficiency

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46OMIM, 32MalaCards
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MalaCards: Mitochondrial Complex Ii Deficiency, also known as mitochondrial respiratory chain complex ii deficiency, is related to pheochromocytoma and paraganglioma. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHAF1 (succinate dehydrogenase complex assembly factor 1), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. The compounds thenoyltrifluoroacetone and nad+ 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, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

mitochondrial complex ii deficiency 42 22 46 60
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


External Ids:

SNOMED-CT via Orphanet57 237989003
OMIM46 252011
ICD10 via Orphanet26 G71.3

Related Diseases for Mitochondrial Complex Ii Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Mitochondrial Complex Ii Deficiency:



Diseases related to mitochondrial complex ii deficiency

Clinical Features for Mitochondrial Complex Ii Deficiency

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46OMIM
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Clinical features from OMIM:

252011

Clinical synopsis from OMIM:

252011

Drugs & Therapeutics for Mitochondrial Complex Ii Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mitochondrial Complex Ii Deficiency

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Complex Ii Deficiency

Search NIH Clinical Center for Mitochondrial Complex Ii Deficiency

Search CenterWatch for Mitochondrial Complex Ii Deficiency

Genetic Tests for Mitochondrial Complex Ii Deficiency

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20GeneTests, 22GTR
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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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Genetic Variations for Mitochondrial Complex Ii Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mitochondrial Complex Ii Deficiency:

62
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

Expression for genes affiliated with Mitochondrial Complex Ii Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Complex Ii Deficiency

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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Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Mitochondrial Complex Ii Deficiency

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Mitochondrial Complex Ii Deficiency according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1110.4SDHA, SDHB
2nad+449.0SDHA, SDHB
3mibg449.0SDHD, SDHB
4catecholamine449.0SDHD, SDHB
5fumarate44 119.7SDHC, SDHB, SDHD
6UBIQUINONE-1118.3SDHD, SDHB, SDHC, SDHA
72-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol118.2SDHD, SDHB, SDHC, SDHA
8iron-sulfur448.2SDHD, SDHB, SDHC, SDHA
9succinic acid28 11 2410.2SDHD, SDHB, SDHA, SDHC
10ubiquinone448.2SDHA, SDHC, SDHB, SDHD
11succinate448.2SDHA, SDHC, SDHD, SDHB
12iron44 249.1SDHD, SDHB, SDHC, SDHA
13oxygen44 248.9SDHD, SDHB, SDHA, SDHC

GO Terms for genes affiliated with Mitochondrial Complex Ii Deficiency

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16Gene Ontology
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Cellular components related to Mitochondrial Complex Ii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:0057497.9SDHD, SDHB, SDHC, SDHA
2mitochondrial inner membraneGO:0057437.7SDHD, SDHB, SDHC, SDHA
3mitochondrionGO:0057397.5SDHD, SDHB, SDHC, SDHA, SDHAF1

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:0061059.3SDHB, SDHA
3aerobic respirationGO:0090609.2SDHB, SDHC
4tricarboxylic acid cycleGO:0060998.1SDHA, SDHC, SDHB, SDHD
5respiratory electron transport chainGO:0229048.1SDHD, SDHB, SDHC, SDHA
6cellular metabolic processGO:0442378.1SDHD, SDHA, SDHC, SDHB
7small molecule metabolic processGO:0442817.7SDHA, SDHC, SDHB, SDHD

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:0480398.9SDHB, SDHD
4electron carrier activityGO:0090558.2SDHC, SDHB, SDHD

Products for genes affiliated with Mitochondrial Complex Ii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet