MCID: MTC007
MIFTS: 60

Mitochondrial Complex I Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Mitochondrial Complex I Deficiency

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NIH Rare Diseases:42 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 based summary: 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 parkinson's disease, 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 rotenone and ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skeletal muscle.

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, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Mitochondrial Complex I Deficiency, Aliases & Descriptions:

Name: Mitochondrial Complex I Deficiency 42 22 46 44 62
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 62
Nadh Coenzyme Q Reductase Deficiency 42
Nadh:q(1) Oxidoreductase Deficiency 42
Mitochondrial Complex 1 Deficiency 46


Classifications:



External Ids:

ICD10 via Orphanet26 G71.3
UMLS via Orphanet63 C2936907
OMIM46 252010

Related Diseases for Mitochondrial Complex I Deficiency

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Graphical network of the top 20 diseases related to Mitochondrial Complex I Deficiency:



Diseases related to mitochondrial complex i deficiency

Symptoms for Mitochondrial Complex I Deficiency

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Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

Symptoms:

48
  • organic acid metabolism anomalies

HPO human phenotypes related to Mitochondrial Complex I Deficiency:

(show all 40)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 sensorineural hearing impairment HP:0000407
3 strabismus HP:0000486
4 ptosis HP:0000508
5 optic disc pallor HP:0000543
6 blindness HP:0000618
7 nystagmus HP:0000639
8 seizures HP:0001250
9 ataxia HP:0001251
10 muscular hypotonia HP:0001252
11 lethargy HP:0001254
12 spasticity HP:0001257
13 coma HP:0001259
14 global developmental delay HP:0001263
15 hyporeflexia HP:0001265
16 cerebellar atrophy HP:0001272
17 muscle weakness HP:0001324
18 hyperreflexia HP:0001347
19 hepatic failure HP:0001399
20 x-linked dominant inheritance HP:0001423
21 mitochondrial inheritance HP:0001427
22 failure to thrive HP:0001508
23 growth delay HP:0001510
24 hypertrophic cardiomyopathy HP:0001639
25 hypoglycemia HP:0001943
26 vomiting HP:0002013
27 cerebral edema HP:0002181
28 developmental regression HP:0002376
29 leukodystrophy HP:0002415
30 increased csf lactate HP:0002490
31 respiratory failure HP:0002878
32 lactic acidosis HP:0003128
33 amyotrophy HP:0003202
34 babinski sign HP:0003487
35 exercise intolerance HP:0003546
36 phenotypic variability HP:0003812
37 progressive macrocephaly HP:0004481
38 acute necrotizing encephalopathy HP:0006965
39 abnormal mitochondria in muscle tissue HP:0008316
40 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Complex I Deficiency

Search NIH Clinical Center for Mitochondrial Complex I Deficiency

Genetic Tests for Mitochondrial Complex I Deficiency

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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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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

32
Liver, Heart, Skeletal muscle, 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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Articles related to Mitochondrial Complex I Deficiency:

(show all 44)
idTitleAuthorsYear
1
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. (24963768)
2014
2
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. (24522811)
2014
3
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. (24895128)
2014
4
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. (24711935)
2014
5
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. (24476218)
2014
6
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. (23266820)
2013
7
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. (23378164)
2013
8
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
9
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. (23836946)
2013
10
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
11
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (22499348)
2012
12
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. (22036961)
2012
13
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. (22450425)
2012
14
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. (21757032)
2012
15
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. (20346082)
2012
16
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. (22099533)
2012
17
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. (22474353)
2012
18
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. (22142868)
2012
19
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. (21458341)
2011
20
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. (20107904)
2011
21
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. (22188452)
2011
22
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (19336460)
2009
23
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). (19089472)
2009
24
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (18396137)
2008
25
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. (18791645)
2008
26
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (18306244)
2008
27
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. (17985265)
2007
28
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. (15824269)
2005
29
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. (15372108)
2004
30
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. (12690563)
2003
31
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. (11743516)
2001
32
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (11349233)
2001
33
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. (11079540)
2000
34
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. (10669207)
2000
35
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
36
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. (10328281)
1999
37
Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. (9603924)
1998
38
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. (8755643)
1996
39
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. (8319712)
1993
40
Mitochondrial complex I deficiency in Parkinson's disease. (8420145)
1993
41
Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency. (1396914)
1992
42
Mitochondrial complex I deficiency in Parkinson's disease. (2154550)
1990
43
Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein. (2512443)
1989
44
Mitochondrial complex I deficiency in Parkinson's disease. (2566813)
1989

Variations for Mitochondrial Complex I Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency:

64 (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:

6 (show all 60)
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
4NDUFV1NDUFV1, 175C-Tsingle nucleotide variantPathogenic
5NDUFV1NM_007103.3(NDUFV1): c.1022C> T (p.Ala341Val)single nucleotide variantPathogenicrs121913660GRCh37Chr 11, 67378982: 67378982
6NDUFV1NM_007103.3(NDUFV1): c.640G> A (p.Glu214Lys)single nucleotide variantPathogenicrs121913661GRCh37Chr 11, 67377981: 67377981
7NDUFV1NDUFV1, IVS8DS, A-C, +4single nucleotide variantPathogenic
8NDUFS1NM_005006.6(NDUFS1): c.666_668delCAT (p.Ile223del)deletionPathogenicrs397515383GRCh37Chr 2, 207011696: 207011698
9NDUFS1NM_005006.6(NDUFS1): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs199422224GRCh37Chr 2, 207009733: 207009733
10NDUFS1NM_005006.6(NDUFS1): c.721C> T (p.Arg241Trp)single nucleotide variantPathogenicrs199422225GRCh37Chr 2, 207011643: 207011643
11NDUFS1NM_005006.6(NDUFS1): c.691C> G (p.Leu231Val)single nucleotide variantPathogenicrs199422226GRCh37Chr 2, 207011673: 207011673
12NDUFAF2NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter)single nucleotide variantPathogenicrs137852863GRCh37Chr 5, 60368963: 60368963
13NDUFB3NDUFB3, TRP22ARGsingle nucleotide variantPathogenic
14NDUFAF1NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro)single nucleotide variantPathogenicrs387906956GRCh37Chr 15, 41687197: 41687197
15NDUFAF1NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg)single nucleotide variantPathogenicrs387906957GRCh37Chr 15, 41687058: 41687058
16NDUFAF1NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs387906958GRCh37Chr 15, 41687185: 41687185
17NDUFAF1NDUFAF1, GLY245ARGundetermined variantPathogenic
18FOXRED1NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs387907087GRCh37Chr 11, 126146371: 126146371
19NDUFS1NM_005006.6(NDUFS1): c.1783A> G (p.Thr595Ala)single nucleotide variantPathogenicrs387907199GRCh37Chr 2, 206992622: 206992622
20NDUFA1NM_004541.3(NDUFA1): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs1801316GRCh37Chr X, 119005968: 119005968
21NDUFS8NM_002496.3(NDUFS8): c.229C> T (p.Arg77Trp)single nucleotide variantPathogenicrs146766138GRCh37Chr 11, 67800607: 67800607
22NDUFS8NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp)single nucleotide variantPathogenicrs397514617GRCh37Chr 11, 67803823: 67803823
23NDUFB3NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter)single nucleotide variantPathogenicrs200800978GRCh37Chr 2, 201950249: 201950249
24NDUFS4NDUFS4, 1-BP DEL, 462AdeletionPathogenic
25NDUFAF3NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg)single nucleotide variantPathogenicrs121918134GRCh37Chr 3, 49059930: 49059930
26NDUFAF3NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro)single nucleotide variantPathogenicrs121918135GRCh37Chr 3, 49060336: 49060336
27NDUFAF3NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121918136GRCh37Chr 3, 49059579: 49059579
28NUBPLNUBPL, 10-BP INS, NT667insertionPathogenic
29NUBPLNM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr)single nucleotide variantPathogenicrs397515440GRCh37Chr 14, 32068516: 32068516
30NUBPLNUBPL, IVS8DS, G-A, +1single nucleotide variantPathogenic
31NUBPLNUBPL, LEU193PHEundetermined variantPathogenic
32NDUFS1NM_005006.6(NDUFS1): c.1855G> A (p.Asp619Asn)single nucleotide variantPathogenicrs397515447GRCh37Chr 2, 206992550: 206992550
33NDUFS1NM_005006.6(NDUFS1): c.1669C> T (p.Arg557Ter)single nucleotide variantPathogenicrs372691318GRCh37Chr 2, 206994851: 206994851
34NDUFS1NM_005006.6(NDUFS1): c.1222C> T (p.Arg408Cys)single nucleotide variantPathogenicrs149271416GRCh37Chr 2, 207006705: 207006705
35NDUFA11NDUFA11, IVS1DS, G-A, +5single nucleotide variantPathogenic
36NDUFAF5NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro)single nucleotide variantPathogenicrs118203929GRCh37Chr 20, 13782298: 13782298
37NDUFAF5NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe)single nucleotide variantPathogenicrs267606689GRCh37Chr 20, 13775585: 13775585
38NDUFS6NDUFS6, IVS2DS, T-A, +2single nucleotide variantPathogenic
39NDUFS6NDUFS6, EX3-4DELdeletionPathogenic
40NDUFS6NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr)single nucleotide variantPathogenicrs267606913GRCh37Chr 5, 1815999: 1815999
41NDUFS3NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp)single nucleotide variantPathogenicrs104894270GRCh37Chr 11, 47603988: 47603988
42NDUFB9NDUFB9, LEU64PROsingle nucleotide variantPathogenic
43NDUFS2NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln)single nucleotide variantPathogenicrs121434427GRCh37Chr 1, 161179702: 161179702
44NDUFS2NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs121434428GRCh37Chr 1, 161179705: 161179705
45NDUFS2NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)single nucleotide variantPathogenicrs121434429GRCh37Chr 1, 161183463: 161183463
46NDUFS4NDUFS4, 5-BP DUPduplicationPathogenic
47NDUFS4NM_002495.2(NDUFS4): c.291delG (p.Trp97Terfs)deletionPathogenicrs121908985GRCh37Chr 5, 52942176: 52942176
48NDUFS4NM_002495.2(NDUFS4): c.44G> A (p.Trp15Ter)single nucleotide variantPathogenicrs104893899GRCh37Chr 5, 52856536: 52856536
49NUBPLNM_025152.2(NUBPL): c.166G> A (p.Gly56Arg)single nucleotide variantPathogenicrs200401432GRCh37Chr 14, 32031331: 32031331
50NDUFAF4NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro)single nucleotide variantPathogenicrs63751061GRCh37Chr 6, 97344666: 97344666
51NUBPLNUBPL, 240-KB DEL AND 130-KB DUPinversionPathogenic
52NDUFV2NDUFV2, 4-BP DEL, NT5deletionPathogenic
53MT-TNm.5728T> Csingle nucleotide variantPathogenicrs199476132GRCh37Chr MT, 5728: 5728
54MT-ND4m.11777C> Asingle nucleotide variantPathogenicrs28384199GRCh37Chr MT, 11777: 11777
55MT-ND3m.10191T> Csingle nucleotide variantPathogenicrs267606890GRCh37Chr MT, 10191: 10191
56MT-ND3m.10158T> Csingle nucleotide variantPathogenicrs199476117GRCh37Chr MT, 10158: 10158
57MT-ND2m.5132_5133delAAdeletionPathogenicrs199476116GRCh37Chr MT, 5132: 5133
58MT-ND2m.4810G> Asingle nucleotide variantPathogenicrs267606888GRCh37Chr MT, 4810: 4810
59MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
60MT-ND1m.3902_3908invACCTTGCinversionPathogenicGRCh37Chr MT, 3902: 3908

Expression for genes affiliated with Mitochondrial Complex I Deficiency

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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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Compounds for genes affiliated with Mitochondrial Complex I Deficiency

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Mitochondrial Complex I Deficiency according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1rotenone4410.1NDUFS4, MT-ND1
2ubiquinone449.7MT-ND4, NDUFS4
3pyruvate449.7NDUFS4, MT-ND3, MT-ND1, MT-ND4
4valine449.6MT-ND4, MT-ND2, MT-ND1
5threonine449.4NDUFS4, MT-ND3, MT-ND2, MT-ND1, MT-ND4
6Ubiquinol 8249.0NDUFS7, NDUFS8, NDUFS2, NDUFS1, MT-ND3, MT-ND2
7QH2248.1MT-ND4, MT-ND1, MT-ND2, NDUFB9, NDUFA11, NDUFA1
8Sulfide248.1NDUFA11, NDUFA1, NDUFS4, NDUFV2, NDUFS7, NDUFS8
9Ubiquinone Q2248.1NDUFA11, NDUFA1, NDUFS4, NDUFV2, NDUFS7, NDUFS8
10FAD248.0NDUFS1, NDUFB9, MT-ND2, MT-ND1, MT-ND4, FOXRED1
11iron44 249.0MT-ND4, MT-ND1, NDUFA11, NDUFA1, NDUFS4, NDUFV2
12Ubiquinone Q1247.9MT-ND1, MT-ND4, MT-ND2, MT-ND3, NDUFB9, NDUFA11
13nad28 248.7MT-ND1, MT-ND4, NDUFB9, MT-ND2, MT-ND3, NDUFA11
14nadh44 24 119.6NDUFAF1, NDUFA11, NDUFA1, NDUFS4, NDUFV2, NDUFS7

GO Terms for genes affiliated with Mitochondrial Complex I Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.2NDUFS2, NDUFS8, NDUFV2, NDUFS4, NDUFA1, NDUFA11
2mitochondrial inner membraneGO:0057438.4NDUFA11, NDUFB9, NDUFA1, NDUFS4, NDUFV2, NDUFS7
3mitochondrial respiratory chain complex IGO:0057478.2NDUFS4, NDUFV2, NDUFS7, NDUFS8, NDUFAF1, NDUFS2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1reactive oxygen species metabolic processGO:07259310.1NDUFS4, NDUFS1
2cellular respirationGO:0453339.8NDUFS4, NDUFS1
3mitochondrial respiratory chain complex I assemblyGO:0329819.4NDUFAF3, NDUFAF5, NDUFS8, NDUFS7, NDUFS4, NDUFAF4
4cellular metabolic processGO:0442378.7NDUFB9, NDUFA11, NDUFA1, NDUFS4, NDUFV2, NDUFS7
5respiratory electron transport chainGO:0229048.7NDUFS2, NDUFB3, NDUFS1, NDUFB9, NDUFS8, NDUFS7
6mitochondrial electron transport, NADH to ubiquinoneGO:0061208.7NDUFA1, NDUFS4, NDUFV2, NDUFS7, NDUFS8, NDUFAF1
7small molecule metabolic processGO:0442818.5NDUFB9, NDUFS1, NDUFB3, NDUFS2, NDUFS8, NDUFS7

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

idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:05153710.1NDUFV2, NDUFS1
2electron carrier activityGO:0090559.9NDUFS1, NDUFS2, NDUFV2
3NADH dehydrogenase activityGO:0039549.9NDUFS7, NDUFS8, NDUFS2
4quinone bindingGO:0480389.8NDUFS7, NDUFS2
54 iron, 4 sulfur cluster bindingGO:0515399.7NDUFS1, NDUFS2, NDUFS8, NDUFS7
6NADH dehydrogenase (ubiquinone) activityGO:0081378.9NDUFA1, NDUFB9, NDUFS1, NDUFB3, NDUFS2, NDUFS8

Products for genes affiliated with Mitochondrial Complex I Deficiency

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet