MCID: MTC007
MIFTS: 50

Mitochondrial Complex I Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Mitochondrial Complex I Deficiency

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46OMIM, 32MalaCards
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MalaCards: Mitochondrial Complex I Deficiency, also known as complex 1 mitochondrial respiratory chain deficiency, is related to parkinson's disease and leigh syndrome due to mitochondrial complex i deficiency, and has symptoms including organic acid metabolism anomalies An important gene associated with Mitochondrial Complex I Deficiency is FOXRED1 (FAD-dependent oxidoreductase domain containing 1), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamic. The compounds doxorubicin and nad have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:46 252010

Aliases & Classifications for Mitochondrial Complex I Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 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


Aliases & Descriptions:

mitochondrial complex i deficiency 42 22 46 44 60
complex 1 mitochondrial respiratory chain deficiency 42 20
mitochondrial nadh dehydrogenase component of complex i, deficiency of 42
isolated mitochondrial respiratory chain complex i deficiency 48
complex i, mitochondrial respiratory chain, deficiency of 46
isolated nadh-coenzyme q reductase deficiency 48
isolated nadh-ubiquinone reductase deficiency 48
isolated nadh-coq reductase deficiency 48
nadh coenzyme q reductase deficiency 42
nadh:q(1) oxidoreductase deficiency 42
mitochondrial complex 1 deficiency 46


External Ids:

SNOMED-CT via Orphanet57 124189004
OMIM46 252010
ICD10 via Orphanet26 G71.3

Related Diseases for Mitochondrial Complex I Deficiency

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



Diseases related to mitochondrial complex i deficiency

Clinical Features for Mitochondrial Complex I Deficiency

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46OMIM, 48Orphanet
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Clinical features from OMIM:

252010

Clinical synopsis from OMIM:

252010

Symptoms:

48
  • organic acid metabolism anomalies

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mitochondrial Complex I Deficiency

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Complex I Deficiency

Search NIH Clinical Center for Mitochondrial Complex I Deficiency

Search CenterWatch for Mitochondrial Complex I Deficiency

Genetic Tests for Mitochondrial Complex I Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Mitochondrial Complex I Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Respiratory Chain Complex I Deficiency20
2 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear Genes)20 NUBPL
3 Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial Genes)20 MT-ND6
4 Mitochondrial Complex I Deficiency22

Anatomical Context for Mitochondrial Complex I Deficiency

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32MalaCards
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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

32
Liver

Animal Models for Mitochondrial Complex I Deficiency or affiliated genes

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Publications for Mitochondrial Complex I Deficiency

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Genetic Variations for Mitochondrial Complex I Deficiency

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

62 (show all 78)
id Symbol AA change Variation ID SNP ID
1FOXRED1p.Asn430SerVAR_064571
2FOXRED1p.Asn430SerVAR_064571
3FOXRED1p.Asn430SerVAR_064571
4MT-ND3p.Ser45ProVAR_035091
5MT-ND3p.Ser45ProVAR_035091
6MT-ND3p.Ser45ProVAR_035091
7MT-ND3p.Ala47ThrVAR_035092
8MT-ND3p.Ala47ThrVAR_035092
9MT-ND3p.Ala47ThrVAR_035092
10MT-ND3p.Ser34ProVAR_064564
11MT-ND3p.Ser34ProVAR_064564
12MT-ND3p.Ser34ProVAR_064564
13MT-ND5p.Phe124LeuVAR_035424
14MT-ND5p.Phe124LeuVAR_035424
15MT-ND5p.Phe124LeuVAR_035424
16MT-ND5p.Asp393AsnVAR_035430
17MT-ND5p.Asp393AsnVAR_035430
18MT-ND5p.Asp393AsnVAR_035430
19MT-ND5p.Val253AlaVAR_064566
20MT-ND5p.Val253AlaVAR_064566
21MT-ND5p.Val253AlaVAR_064566
22MT-ND6p.Ala72ValVAR_004764
23MT-ND6p.Ala72ValVAR_004764
24MT-ND6p.Ala72ValVAR_004764
25MT-ND6p.Met63ValVAR_064568
26MT-ND6p.Met63ValVAR_064568
27MT-ND6p.Met63ValVAR_064568
28NDUFA1p.Gly8ArgVAR_035099
29NDUFA1p.Gly8ArgVAR_035099
30NDUFA1p.Gly8ArgVAR_035099
31NDUFA1p.Arg37SerVAR_035100
32NDUFA1p.Arg37SerVAR_035100
33NDUFA1p.Arg37SerVAR_035100
34NDUFAF3p.Gly77ArgVAR_058491
35NDUFAF3p.Gly77ArgVAR_058491
36NDUFAF3p.Gly77ArgVAR_058491
37NDUFAF3p.Arg122ProVAR_058492
38NDUFAF3p.Arg122ProVAR_058492
39NDUFAF3p.Arg122ProVAR_058492
40NDUFAF4p.Leu65ProVAR_044329
41NDUFAF4p.Leu65ProVAR_044329
42NDUFAF4p.Leu65ProVAR_044329
43NDUFAF5p.Leu229ProVAR_054119
44NDUFAF5p.Leu229ProVAR_054119
45NDUFAF5p.Leu229ProVAR_054119
46NDUFAF6p.Gln99ArgVAR_047770
47NDUFAF6p.Gln99ArgVAR_047770
48NDUFAF6p.Gln99ArgVAR_047770
49NDUFS1p.Arg241TrpVAR_019532
50NDUFS1p.Arg241TrpVAR_019532
51NDUFS1p.Arg241TrpVAR_019532
52NDUFS1p.Asp252GlyVAR_019533
53NDUFS1p.Asp252GlyVAR_019533
54NDUFS1p.Asp252GlyVAR_019533
55NDUFS2p.Arg228GlnVAR_019535
56NDUFS2p.Arg228GlnVAR_019535
57NDUFS2p.Arg228GlnVAR_019535
58NDUFS2p.Pro229GlnVAR_019536
59NDUFS2p.Pro229GlnVAR_019536
60NDUFS2p.Pro229GlnVAR_019536
61NDUFS2p.Ser413ProVAR_019537
62NDUFS2p.Ser413ProVAR_019537
63NDUFS2p.Ser413ProVAR_019537
64NDUFS7p.Val122MetVAR_008848
65NDUFS7p.Val122MetVAR_008848
66NDUFS7p.Val122MetVAR_008848
67NDUFV1p.Ala341ValVAR_008846
68NDUFV1p.Ala341ValVAR_008846
69NDUFV1p.Ala341ValVAR_008846
70NDUFV1p.Glu214LysVAR_019534
71NDUFV1p.Glu214LysVAR_019534
72NDUFV1p.Glu214LysVAR_019534
73NUBPLp.Asp105TyrVAR_069767
74NUBPLp.Asp105TyrVAR_069767
75NUBPLp.Asp105TyrVAR_069767
76NUBPLp.Leu193PheVAR_069768
77NUBPLp.Leu193PheVAR_069768
78NUBPLp.Leu193PheVAR_069768

Expression for genes affiliated with Mitochondrial Complex I Deficiency

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

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

Pathways for genes affiliated with Mitochondrial Complex I Deficiency

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Sources:
49PharmGKB, 53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Complex I Deficiency

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Mitochondrial Complex I Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1doxorubicin44 49 1111.9NDUFS7, NDUFS3, NDUFS2, NDUFS4
2nad28 249.4NDUFS6, NDUFS7, NDUFS1, NDUFA11, NDUFS3, NDUFB3
3iron44 249.1NDUFS7, NDUFS1, NDUFA11, NDUFA2, NDUFB9, NDUFA1
4nadh44 11 249.9NDUFS6, NDUFAF2, NDUFAF4, NDUFS3, NDUFAF1, NDUFB3

GO Terms for genes affiliated with Mitochondrial Complex I Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial membraneGO:0319669.9NDUFA2, NDUFA1, NDUFS3, NDUFAF4
2mitochondrionGO:0057398.6NUBPL, NDUFS4, FOXRED1, NDUFA11, NDUFB9, NDUFA1
3mitochondrial respiratory chain complex IGO:0057478.3NDUFS6, NDUFS7, NDUFS1, NDUFA11, NDUFA2, NDUFB9
4mitochondrial inner membraneGO:0057438.2NDUFS2, NDUFV1, NDUFB3, NDUFS3, NDUFS6, NDUFV2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular respirationGO:04533310.2NDUFS1, NDUFS4
2reactive oxygen species metabolic processGO:0725939.9NDUFS4, NDUFS3, NDUFS1
3mitochondrion morphogenesisGO:0705849.9NUBPL, NDUFS6
4mitochondrial respiratory chain complex I assemblyGO:0329819.7NDUFAF4, NUBPL, NDUFS7, NDUFAF3, NDUFS4, NDUFAF5
5cellular metabolic processGO:0442378.6NDUFS6, NDUFS7, NDUFS1, NDUFA11, NDUFA2, NDUFB9
6respiratory electron transport chainGO:0229048.6NDUFS2, NDUFV1, NDUFB3, NDUFS3, NDUFS6, NDUFV2
7mitochondrial electron transport, NADH to ubiquinoneGO:0061208.5NDUFS7, NDUFAF1, NDUFB3, NDUFV1, NDUFS2, NDUFV2
8small molecule metabolic processGO:0442818.4NDUFS2, NDUFV1, NDUFB3, NDUFS3, NDUFS6, NDUFV2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1NAD bindingGO:05128710.2NDUFV1, NDUFS2
2quinone bindingGO:04803810.1NDUFS2, NDUFS7
3NADH dehydrogenase activityGO:00395410.0NDUFS2, NDUFS3, NDUFS7
42 iron, 2 sulfur cluster bindingGO:0515379.8NDUFV2, NDUFS1
54 iron, 4 sulfur cluster bindingGO:0515399.8NDUFS7, NUBPL, NDUFV1, NDUFS1, NDUFS2
6electron carrier activityGO:0090559.7NDUFS6, NDUFAF2, NDUFS3, NDUFS2, NDUFS1, NDUFV2
7NADH dehydrogenase (ubiquinone) activityGO:0081378.5NDUFS2, NDUFS3, NDUFB3, NDUFV1, NDUFS6, NDUFV2

Products for genes affiliated with Mitochondrial Complex I Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Complex I 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