MCID: MTC020
MIFTS: 44

Mitochondrial Complex Ii Deficiency malady

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

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47OMIM, 33MalaCards
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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 Citric acid cycle (TCA cycle) and Alzheimer's disease. The compounds thenoyltrifluoroacetone and Ubiquinol 8 have been mentioned in the context of this disorder.

Description from OMIM:47 252011

Aliases & Classifications for Mitochondrial Complex Ii Deficiency

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43NIH Rare Diseases, 22GTR, 47OMIM, 62UMLS, 20GeneTests, 49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

mitochondrial complex ii deficiency 43 22 47 62
mitochondrial respiratory chain complex ii deficiency 43 20 47
isolated mitochondrial respiratory chain complex ii deficiency 49
complex 2 mitochondrial respiratory chain deficiency 43
isolated succinate-ubiquinone reductase deficiency 49
isolated succinate-coenzyme q reductase deficiency 49
isolated succinate-coq reductase deficiency 49
succinate coq reductase deficiency 43


External Ids:

SNOMED-CT via Orphanet59 237989003
OMIM47 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

Symptoms for Mitochondrial Complex Ii Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

252011

Clinical features from OMIM:

252011

Drugs & Therapeutics for Mitochondrial Complex Ii Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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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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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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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2BioGPS, 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:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB
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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
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
8.0SDHA, SDHC, SDHD, SDHB
2
Show member pathways
Alzheimers Disease38
8.0SDHB, SDHD, SDHC, SDHA
3
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.0SDHB, SDHD, SDHC, SDHA
4
Show member pathways
8.0SDHD, SDHC, SDHA, SDHB
5
Show member pathways
8.0SDHD, SDHC, SDHA, SDHB

Compounds for genes affiliated with Mitochondrial Complex Ii Deficiency

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Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Mitochondrial Complex Ii Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone45 1110.3SDHA, SDHB
2Ubiquinol 8249.2SDHA, SDHB
3nad+459.1SDHB, SDHA
4glyceraldehyde 3-phosphate459.1SDHA, SDHB
5mibg459.1SDHD, SDHB
6heme29 24 1111.0SDHC, SDHD
7catecholamine458.9SDHD, SDHB
8fumarate45 119.7SDHB, SDHD, SDHC
9Fumaric acid248.3SDHA, SDHC, SDHD, SDHB
10succinic acid29 24 1110.3SDHB, SDHD, SDHC, SDHA
11iron-sulfur458.3SDHB, SDHD, SDHC, SDHA
12ubiquinone458.3SDHB, 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
17succinate458.2SDHB, SDHD, SDHC, SDHA
18FAD248.2SDHA, SDHC, SDHD, SDHB
19iron45 249.2SDHA, SDHC, SDHD, SDHB
20oxygen45 249.1SDHB, SDHD, SDHC, SDHA

GO Terms for genes affiliated with Mitochondrial Complex Ii Deficiency

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Sources:
16Gene Ontology
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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:0061059.1SDHB, SDHA
3aerobic respirationGO:0090609.0SDHB, SDHC
4tricarboxylic acid cycleGO:0060998.1SDHA, SDHC, SDHD, SDHB
5respiratory electron transport chainGO:0229048.1SDHB, SDHD, SDHC, SDHA
6cellular metabolic processGO:0442378.1SDHB, SDHA, SDHC, SDHD
7small molecule metabolic processGO:0442817.7SDHA, SDHC, SDHD, SDHB

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:0200379.3SDHC, SDHD
2succinate dehydrogenase (ubiquinone) activityGO:0081779.1SDHA, SDHB
3succinate dehydrogenase activityGO:0001048.9SDHA, SDHC, SDHD
4ubiquinone bindingGO:0480398.7SDHD, SDHB
5electron carrier activityGO:0090558.4SDHB, SDHD, SDHC

Products for genes affiliated with Mitochondrial Complex Ii Deficiency

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  • Antibodies
  • Proteins
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Sources for Mitochondrial Complex Ii Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet