MCID: MTC007
MIFTS: 58

Mitochondrial Complex I Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Mitochondrial Complex I Deficiency

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Mitochondrial complex i deficiency is a type of mitochondrial disease. mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. in mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. complex i is the first step in a chain reaction in mitochondria leading to energy production. signs and symptoms of complex i deficiency vary widely in nature and severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. features may include macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, leigh syndrome, leber hereditary optic neuropathy, and some forms of parkinson disease. the disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. treatment is only sometimes effective and may include metabolic therapies such as riboflavin, thiamine, biotin, co-enzyme q10, carnitine, and a ketogenic diet (a special high-fat, low-carbohydrate diet). last updated: 4/18/2014

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 melas syndrome, 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 Ubiquinol 8 have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and temporal lobe.

Description from OMIM:48 252010

Aliases & Classifications for Mitochondrial Complex I Deficiency

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44NIH Rare Diseases, 23GTR, 48OMIM, 46Novoseek, 63UMLS, 21GeneTests, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

mitochondrial complex i deficiency 44 23 48 46 63
complex 1 mitochondrial respiratory chain deficiency 44 21
mitochondrial nadh dehydrogenase component of complex i, deficiency of 44
isolated mitochondrial respiratory chain complex i deficiency 50
complex i, mitochondrial respiratory chain, deficiency of 48
isolated nadh-coenzyme q reductase deficiency 50
isolated nadh-ubiquinone reductase deficiency 50
isolated nadh-coq reductase deficiency 50
nadh coenzyme q reductase deficiency 44
nadh:q(1) oxidoreductase deficiency 44
mitochondrial complex 1 deficiency 48


External Ids:

SNOMED-CT via Orphanet60 124189004
OMIM48 252010
ICD10 via Orphanet27 G71.3
UMLS via Orphanet64 C2936907

Related Diseases for Mitochondrial Complex I Deficiency

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Mitochondrial Complex I Deficiency:



Diseases related to mitochondrial complex i deficiency

Symptoms for Mitochondrial Complex I Deficiency

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

Symptoms:

50
  • organic acid metabolism anomalies

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Mitochondrial Complex I Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Respiratory Chain Complex I Deficiency21
2 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear Genes)21 NUBPL
3 Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial Genes)21 MT-ND6
4 Mitochondrial Complex I Deficiency23

Anatomical Context for Mitochondrial Complex I Deficiency

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34MalaCards
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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

34
Liver, Heart, Temporal lobe

Animal Models for Mitochondrial Complex I Deficiency or affiliated genes

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Publications for Mitochondrial Complex I Deficiency

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53PubMed
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Articles related to Mitochondrial Complex I Deficiency:

(show all 38)
idTitleAuthorsYear
1
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. (23266820)
2013
2
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. (23378164)
2013
3
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
4
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. (23836946)
2013
5
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
6
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (22499348)
2012
7
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. (22036961)
2012
8
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. (22450425)
2012
9
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. (21757032)
2012
10
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. (20346082)
2012
11
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. (22099533)
2012
12
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. (22474353)
2012
13
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. (22142868)
2012
14
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. (21458341)
2011
15
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. (20107904)
2011
16
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. (22188452)
2011
17
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (19336460)
2009
18
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). (19089472)
2009
19
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (18396137)
2008
20
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. (18791645)
2008
21
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (18306244)
2008
22
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. (17985265)
2007
23
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. (15824269)
2005
24
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. (15372108)
2004
25
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. (12690563)
2003
26
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. (11743516)
2001
27
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (11349233)
2001
28
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. (11079540)
2000
29
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. (10669207)
2000
30
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
31
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. (10328281)
1999
32
Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. (9603924)
1998
33
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. (8755643)
1996
34
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. (8319712)
1993
35
Mitochondrial complex I deficiency in Parkinson's disease. (8420145)
1993
36
Mitochondrial complex I deficiency in Parkinson's disease. (2154550)
1990
37
Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein. (2512443)
1989
38
Mitochondrial complex I deficiency in Parkinson's disease. (2566813)
1989

Variations for Mitochondrial Complex I 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 I Deficiency:

65 (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

Clinvar genetic disease variations for Mitochondrial Complex I Deficiency:

1 (show all 44)
id Gene Name Type Significance SNP ID Assembly Location
1NDUFA1NM_004541.3(NDUFA1): c.22G> C (p.Gly8Arg)single nucleotide variantPathogenicrs104894884GRCh37Chr X, 119005896: 119005896
2NDUFA1NM_004541.3(NDUFA1): c.111G> C (p.Arg37Ser)single nucleotide variantPathogenicrs104894885GRCh37Chr X, 119007275: 119007275
3NDUFV1NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met)single nucleotide variantPathogenicrs121913659GRCh37Chr 11, 67379696: 67379696
4NDUFV1NM_007103.3(NDUFV1): c.1022C> T (p.Ala341Val)single nucleotide variantPathogenicrs121913660GRCh37Chr 11, 67378982: 67378982
5NDUFV1NM_007103.3(NDUFV1): c.640G> A (p.Glu214Lys)single nucleotide variantPathogenicrs121913661GRCh37Chr 11, 67377981: 67377981
6NDUFS1NM_005006.6(NDUFS1): c.666_668delCAT (p.Ile223del)deletionPathogenicrs397515383GRCh37Chr 2, 207011696: 207011698
7NDUFS1NM_005006.6(NDUFS1): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs199422224GRCh37Chr 2, 207009733: 207009733
8NDUFS1NM_005006.6(NDUFS1): c.721C> T (p.Arg241Trp)single nucleotide variantPathogenicrs199422225GRCh37Chr 2, 207011643: 207011643
9NDUFS1NM_005006.6(NDUFS1): c.691C> G (p.Leu231Val)single nucleotide variantPathogenicrs199422226GRCh37Chr 2, 207011673: 207011673
10NDUFAF2NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter)single nucleotide variantPathogenicrs137852863GRCh37Chr 5, 60368963: 60368963
11NDUFAF1NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro)single nucleotide variantPathogenicrs387906956GRCh37Chr 15, 41687197: 41687197
12NDUFAF1NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg)single nucleotide variantPathogenicrs387906957GRCh37Chr 15, 41687058: 41687058
13NDUFAF1NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs387906958GRCh37Chr 15, 41687185: 41687185
14FOXRED1NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs387907087GRCh37Chr 11, 126146371: 126146371
15NDUFS1NM_005006.6(NDUFS1): c.1783A> G (p.Thr595Ala)single nucleotide variantPathogenicrs387907199GRCh37Chr 2, 206992622: 206992622
16NDUFA1NM_004541.3(NDUFA1): c.94G> C (p.Gly32Arg)single nucleotide variantBenign, Pathogenicrs1801316GRCh37Chr X, 119005968: 119005968
17NDUFS8NM_002496.3(NDUFS8): c.229C> T (p.Arg77Trp)single nucleotide variantPathogenicrs146766138GRCh37Chr 11, 67800607: 67800607
18NDUFS8NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp)single nucleotide variantPathogenicrs397514617GRCh37Chr 11, 67803823: 67803823
19NDUFB3NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter)single nucleotide variantPathogenicrs200800978GRCh37Chr 2, 201950249: 201950249
20NDUFAF3NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg)single nucleotide variantPathogenicrs121918134GRCh37Chr 3, 49059930: 49059930
21NDUFAF3NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro)single nucleotide variantPathogenicrs121918135GRCh37Chr 3, 49060336: 49060336
22NDUFAF3NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121918136GRCh37Chr 3, 49059579: 49059579
23NUBPLNM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr)single nucleotide variantPathogenicrs397515440GRCh37Chr 14, 32068516: 32068516
24NDUFS1NM_005006.6(NDUFS1): c.1855G> A (p.Asp619Asn)single nucleotide variantPathogenicrs397515447GRCh37Chr 2, 206992550: 206992550
25NDUFS1NM_005006.6(NDUFS1): c.1669C> T (p.Arg557Ter)single nucleotide variantPathogenicrs372691318GRCh37Chr 2, 206994851: 206994851
26NDUFS1NM_005006.6(NDUFS1): c.1222C> T (p.Arg408Cys)single nucleotide variantPathogenicrs149271416GRCh37Chr 2, 207006705: 207006705
27NDUFAF5NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro)single nucleotide variantPathogenicrs118203929GRCh37Chr 20, 13782298: 13782298
28NDUFAF5NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe)single nucleotide variantPathogenicrs267606689GRCh37Chr 20, 13775585: 13775585
29NDUFS6NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr)single nucleotide variantPathogenicrs267606913GRCh37Chr 5, 1815999: 1815999
30NDUFS3NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp)single nucleotide variantPathogenicrs104894270GRCh37Chr 11, 47603988: 47603988
31NDUFS2NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln)single nucleotide variantPathogenicrs121434427GRCh37Chr 1, 161179702: 161179702
32NDUFS2NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs121434428GRCh37Chr 1, 161179705: 161179705
33NDUFS2NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)single nucleotide variantPathogenicrs121434429GRCh37Chr 1, 161183463: 161183463
34NDUFS4NM_002495.2(NDUFS4): c.291delG (p.Trp97Terfs)deletionPathogenicrs121908985GRCh37Chr 5, 52942176: 52942176
35NDUFS4NM_002495.2(NDUFS4): c.44G> A (p.Trp15Ter)single nucleotide variantPathogenicrs104893899GRCh37Chr 5, 52856536: 52856536
36NDUFAF4NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro)single nucleotide variantPathogenicrs63751061GRCh37Chr 6, 97344666: 97344666
37MT-TNm.5728T> Csingle nucleotide variantPathogenicrs199476132GRCh37Chr MT, 5728: 5728
38MT-ND4m.11777C> Asingle nucleotide variantPathogenicrs28384199GRCh37Chr MT, 11777: 11777
39MT-ND3m.10191T> Csingle nucleotide variantPathogenicrs267606890GRCh37Chr MT, 10191: 10191
40MT-ND3m.10158T> Csingle nucleotide variantPathogenicrs199476117GRCh37Chr MT, 10158: 10158
41MT-ND2m.5132_5133delAAdeletionPathogenicrs199476116GRCh37Chr MT, 5132: 5133
42MT-ND2m.4810G> Asingle nucleotide variantPathogenicrs267606888GRCh37Chr MT, 4810: 4810
43MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
44MT-ND1m.3902_3908invACCTTGCinversionPathogenicGRCh37Chr MT, 3902: 3908

Expression for genes affiliated with Mitochondrial Complex I Deficiency

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Sources:
2BioGPS, 16Gene 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

About this section
Sources:
51PathCards, 52PharmGKB, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Complex I Deficiency

About this section
Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Mitochondrial Complex I Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1doxorubicin46 52 1211.8NDUFS4, NDUFS7, NDUFS3, NDUFS2
2Ubiquinol 8259.0NDUFS1, NDUFS2, NDUFS3, NDUFV1, NDUFS8, NDUFS7
3nad30 259.2NDUFS1, NDUFB9, NDUFA11, NDUFA1, NDUFS4, NDUFV2
4Sulfide258.1NDUFA11, NDUFA1, NDUFS4, NDUFV2, NDUFS6, NDUFS7
5QH2258.1NDUFB9, NDUFS1, NDUFB3, NDUFA11, NDUFA1, NDUFS4
6Ubiquinone Q2258.1NDUFA1, NDUFS4, NDUFV2, NDUFS6, NDUFS7, NDUFS8
7Ubiquinone Q1258.1NDUFB9, NDUFS1, NDUFA11, NDUFA1, NDUFS4, NDUFV2
8iron46 258.8NDUFB9, NDUFS1, NDUFB3, NDUFA11, NDUFA1, NDUFS4
9FAD257.8NDUFA11, NDUFA1, NDUFS4, NDUFV2, NDUFS6, NDUFS7
10nadh46 25 129.6NDUFAF4, NDUFB9, NDUFS1, NDUFB3, NDUFS2, NDUFA11

GO Terms for genes affiliated with Mitochondrial Complex I Deficiency

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Sources:
17Gene Ontology
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Cellular components related to Mitochondrial Complex I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial membraneGO:03196610.0NDUFAF4, NDUFA1, NDUFS3
2mitochondrionGO:0057398.3NDUFAF4, NDUFA11, NDUFV2, NDUFAF2, NDUFA1, NDUFS4
3mitochondrial respiratory chain complex IGO:0057477.8NDUFB9, NDUFA11, NDUFA1, NDUFS4, NDUFV2, NDUFS6
4mitochondrial inner membraneGO:0057437.7NDUFAF3, NDUFS2, NDUFB3, NDUFS1, NDUFB9, NDUFS3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular respirationGO:04533310.1NDUFS4, NDUFS1
2mitochondrion morphogenesisGO:0705849.8NDUFS6, NUBPL
3reactive oxygen species metabolic processGO:0725939.8NDUFS1, NDUFS3, NDUFS4
4mitochondrial respiratory chain complex I assemblyGO:0329819.4NUBPL, NDUFAF3, NDUFAF5, NDUFS8, NDUFS7, NDUFS4
5cellular metabolic processGO:0442378.1NDUFS8, NDUFS7, NDUFS6, NDUFV2, NDUFS4, NDUFA1
6respiratory electron transport chainGO:0229048.1NDUFB9, NDUFS1, NDUFB3, NDUFS2, NDUFS3, NDUFV1
7mitochondrial electron transport, NADH to ubiquinoneGO:0061208.1NDUFA1, NDUFS2, NDUFS3, NDUFV1, NDUFAF1, NDUFS8
8small molecule metabolic processGO:0442817.9NDUFS3, NDUFS2, NDUFB3, NDUFS1, NDUFB9, NDUFV1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1NAD bindingGO:05128710.2NDUFS2, NDUFV1
2quinone bindingGO:04803810.0NDUFS2, NDUFS7
3NADH dehydrogenase activityGO:0039549.8NDUFS7, NDUFS8, NDUFS3, NDUFS2
42 iron, 2 sulfur cluster bindingGO:0515379.8NDUFV2, NDUFS1
5electron carrier activityGO:0090559.7NDUFS2, NDUFV2, NDUFS6, NDUFS1, NDUFS3
64 iron, 4 sulfur cluster bindingGO:0515399.5NDUFS8, NDUFS7, NUBPL, NDUFV1, NDUFS2, NDUFS1
7metal ion bindingGO:0468729.1NDUFS1, NUBPL, NDUFS2, NDUFV2, NDUFS7, NDUFS8
8NADH dehydrogenase (ubiquinone) activityGO:0081378.3NDUFS8, NDUFS2, NDUFS3, NDUFV1, NDUFS1, NDUFS7

Products for genes affiliated with Mitochondrial Complex I Deficiency

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  • Antibodies
  • Proteins
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Sources for Mitochondrial Complex I Deficiency

About this section
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