MCID: MTC020
MIFTS: 44

Mitochondrial Complex Ii Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Mitochondrial Complex Ii Deficiency

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48OMIM, 34MalaCards
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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:48 252011

Aliases & Classifications for Mitochondrial Complex Ii Deficiency

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 63UMLS, 21GeneTests, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 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):

50

Aliases & Descriptions:

mitochondrial complex ii deficiency 44 23 48 63
mitochondrial respiratory chain complex ii deficiency 44 21 48
isolated mitochondrial respiratory chain complex ii deficiency 50
complex 2 mitochondrial respiratory chain deficiency 44
isolated succinate-ubiquinone reductase deficiency 50
isolated succinate-coenzyme q reductase deficiency 50
isolated succinate-coq reductase deficiency 50
succinate coq reductase deficiency 44


External Ids:

SNOMED-CT via Orphanet60 237989003
OMIM48 252011
ICD10 via Orphanet27 G71.3

Related Diseases for Mitochondrial Complex Ii Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mitochondrial Complex Ii Deficiency

Drug clinical trials:

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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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21GeneTests, 23GTR
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Genetic tests related to Mitochondrial Complex Ii Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Respiratory Chain Complex Ii Deficiency21
2 Mitochondrial Complex Ii Deficiency23

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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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Ii Deficiency:

65
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, 16Gene 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:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB
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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 cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
8.0SDHA, SDHC, SDHD, SDHB
2
Show member pathways
Alzheimers Disease39
8.0SDHB, SDHD, SDHC, SDHA
3
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
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:
46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Mitochondrial Complex Ii Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone46 1210.3SDHA, SDHB
2Ubiquinol 8259.2SDHA, SDHB
3nad+469.1SDHB, SDHA
4glyceraldehyde 3-phosphate469.1SDHA, SDHB
5mibg469.1SDHD, SDHB
6heme30 25 1211.0SDHC, SDHD
7catecholamine468.9SDHD, SDHB
8fumarate46 129.7SDHB, SDHD, SDHC
9Fumaric acid258.3SDHA, SDHC, SDHD, SDHB
10succinic acid30 25 1210.3SDHB, SDHD, SDHC, SDHA
11iron-sulfur468.3SDHB, SDHD, SDHC, SDHA
12ubiquinone468.3SDHB, SDHD, SDHC, SDHA
13Sulfide258.3SDHB, SDHD, SDHC, SDHA
14QH2258.3SDHA, SDHC, SDHD, SDHB
15Ubiquinone Q2258.3SDHB, SDHD, SDHC, SDHA
16Ubiquinone Q1258.3SDHA, SDHC, SDHD, SDHB
17succinate468.2SDHB, SDHD, SDHC, SDHA
18FAD258.2SDHA, SDHC, SDHD, SDHB
19iron46 259.2SDHA, SDHC, SDHD, SDHB
20oxygen46 259.1SDHB, SDHD, SDHC, SDHA

GO Terms for genes affiliated with Mitochondrial Complex Ii Deficiency

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17Gene 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
  • Lysates
  • Antibodies

Sources for Mitochondrial Complex Ii Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet