MCID: MTC007
MIFTS: 46

Mitochondrial Complex I Deficiency malady

Neuronal, Metabolic categories

Summaries for Mitochondrial Complex I Deficiency

Sources:
47OMIM, 33MalaCards
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MalaCards: Mitochondrial Complex I Deficiency, also known as complex 1 mitochondrial respiratory chain deficiency, is related to leigh syndrome due to mitochondrial complex i deficiency and mitochondrial complex v 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 heart, skeletal muscle and liver.

Description from OMIM:47 252010

Aliases & Classifications for Mitochondrial Complex I Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

mitochondrial complex i deficiency 43 22 47 45 61
complex 1 mitochondrial respiratory chain deficiency 43 20
mitochondrial nadh dehydrogenase component of complex i, deficiency of 43
isolated mitochondrial respiratory chain complex i deficiency 49
complex i, mitochondrial respiratory chain, deficiency of 47
isolated nadh-coenzyme q reductase deficiency 49
isolated nadh-ubiquinone reductase deficiency 49
isolated nadh-coq reductase deficiency 49
nadh coenzyme q reductase deficiency 43
mitochondrial complex 1 deficiency 47
nadh:q oxidoreductase deficiency 43


External Ids:

OMIM47 252010
ICD10 via Orphanet26 G71.3

Related Diseases for Mitochondrial Complex I Deficiency

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

252010

Clinical synopsis from OMIM:

252010

Symptoms:

49
  • organic acid metabolism anomalies

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

33
Heart, Skeletal muscle, Liver, B cells

Animal Models for Mitochondrial Complex I Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mitochondrial Complex I Deficiency

Sources:
51PubMed
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Articles related to Mitochondrial Complex I Deficiency:

(show all 29)
idTitleAuthorsYear
1
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
2
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
3
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. (24367056)
2013
4
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. (22972948)
2012
5
Impaired ubiquitin-proteasome-mediated PGC-1I+ protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency. (22589185)
2012
6
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. (22474353)
2012
7
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. (21278747)
2011
8
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. (22188452)
2011
9
Impact of the mitochondrial genetic background in complex III deficiency. (20862300)
2010
10
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency. (18560889)
2009
11
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. (18495510)
2008
12
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. (17152068)
2007
13
Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate. (16765624)
2006
14
Ca2+-mobilizing agonists increase mitochondrial ATP production to accelerate cytosolic Ca2+ removal: aberrations in human complex I deficiency. (16554405)
2006
15
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. (16288654)
2005
16
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency. (15702410)
2005
17
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. (14749350)
2004
18
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. (15269216)
2004
19
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. (14705112)
2004
20
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. (12624137)
2003
21
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. (12690563)
2003
22
Mitochondrial myopathy (complex I deficiency) associated with chronic intestinal pseudo-obstruction. (12939706)
2003
23
Heme deficiency selectively interrupts assembly of mitochondrial complex IV in human fibroblasts: revelance to aging. (11598132)
2001
24
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
25
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. (8651282)
1996
26
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. (8755643)
1996
27
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. (8910895)
1996
28
Disproportionate deficiency of iron-sulfur clusters and subunits of complex I in mitochondrial encephalomyopathy. (2493147)
1989
29
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. (3110216)
1987

Genetic Variations for Mitochondrial Complex I Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Mitochondrial Complex I Deficiency:

63 (show all 26)
id Symbol AA change Variation SNP ID
1FOXRED1p.Asn430SerVAR_064571
2MT-ND3p.Ser45ProVAR_035091
3MT-ND3p.Ala47ThrVAR_035092
4MT-ND3p.Ser34ProVAR_064564
5MT-ND5p.Phe124LeuVAR_035424
6MT-ND5p.Asp393AsnVAR_035430
7MT-ND5p.Val253AlaVAR_064566
8MT-ND6p.Ala72ValVAR_004764
9MT-ND6p.Met63ValVAR_064568
10NDUFA1p.Gly8ArgVAR_035099
11NDUFA1p.Arg37SerVAR_035100
12NDUFAF3p.Gly77ArgVAR_058491
13NDUFAF3p.Arg122ProVAR_058492
14NDUFAF4p.Leu65ProVAR_044329
15NDUFAF5p.Leu229ProVAR_054119
16NDUFAF6p.Gln99ArgVAR_047770
17NDUFS1p.Arg241TrpVAR_019532
18NDUFS1p.Asp252GlyVAR_019533
19NDUFS2p.Arg228GlnVAR_019535
20NDUFS2p.Pro229GlnVAR_019536
21NDUFS2p.Ser413ProVAR_019537
22NDUFS7p.Val122MetVAR_008848
23NDUFV1p.Ala341ValVAR_008846
24NDUFV1p.Glu214LysVAR_019534
25NUBPLp.Asp105TyrVAR_069767
26NUBPLp.Leu193PheVAR_069768

Expression for genes affiliated with Mitochondrial Complex I Deficiency

Sources:
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

Sources:
50PharmGKB, 54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Complex I Deficiency

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Mitochondrial Complex I Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1doxorubicin45 50 1111.9NDUFS7, NDUFS4, NDUFS2, NDUFS3
2nad29 249.4NDUFS6, NDUFS7, NDUFS1, NDUFA11, NDUFA2, NDUFS3
3iron45 249.3NDUFS6, NDUFS3, NDUFB3, NDUFV1, NDUFS2, NDUFV2
4nadh45 11 249.7NDUFS2, NDUFV2, NDUFS4, NDUFA1, NDUFB9, NDUFA2

GO Terms for genes affiliated with Mitochondrial Complex I Deficiency

Sources:
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:0725939.9NDUFS3, NDUFS4, NDUFS1
3mitochondrion morphogenesisGO:0705849.9NUBPL, NDUFS6
4mitochondrial respiratory chain complex I assemblyGO:0329819.7NDUFAF4, NDUFAF5, NDUFS4, NDUFAF3, NDUFS7, NUBPL
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:0061208.5NDUFS2, NDUFV2, NDUFS4, NDUFA1, NDUFB9, NDUFA2
8small molecule metabolic processGO:0442818.4NDUFS6, NDUFS3, NDUFB3, NDUFV1, NDUFS2, NDUFV2

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

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

Products for genes affiliated with Mitochondrial Complex I Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Complex I Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet