MT-C1D
MCID: MTC007
MIFTS: 61

Mitochondrial Complex I Deficiency (MT-C1D) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency

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Aliases & Descriptions for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 52 11 48 24 70 50 39 13 68
Nadh:q(1) Oxidoreductase Deficiency 48 70 68
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 11 48
Complex 1 Mitochondrial Respiratory Chain Deficiency 48 70
Isolated Nadh-Coenzyme Q Reductase Deficiency 11 48
Isolated Nadh-Ubiquinone Reductase Deficiency 11 48
Isolated Nadh-Coq Reductase Deficiency 11 48
Mitochondrial Complex 1 Deficiency 52 27
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 48
 
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 70
Complex I, Mitochondrial Respiratory Chain, Deficiency of 12
Mitochondrial Respiratory Chain Complex I Deficiency 24
Complex I Mitochondrial Respiratory Chain Deficiency 70
Nadh:ubiquinone Oxidoreductase Deficiency 70
Nadh-Coenzyme Q Reductase Deficiency 70
Nadh Coenzyme Q Reductase Deficiency 48
Isolated Complex I Deficiency 48
Mt-C1d 70

Characteristics:

HPO:

64
mitochondrial complex i deficiency:
Inheritance: autosomal recessive inheritance, x-linked dominant inheritance, mitochondrial inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 252010
Disease Ontology11 DOID:0060536

Summaries for Mitochondrial Complex I Deficiency

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OMIM:52 Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland... (252010) more...

MalaCards based summary: Mitochondrial Complex I Deficiency, also known as nadh:q(1) oxidoreductase deficiency, is related to mitochondrial complex i deficiency due to acad9 deficiency and fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency, and has symptoms including ataxia, ataxia and lethargy. An important gene associated with Mitochondrial Complex I Deficiency is NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1), and among its related pathways are Metformin Pathway, Pharmacodynamics and GABAergic synapse. Affiliated tissues include liver, skeletal muscle and temporal lobe, and related mouse phenotypes are Decreased shRNA abundance and Decreased shRNA abundance (Z-score < -2).

Disease Ontology:11 A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 Mitochondrial complex I deficiency: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.

Related Diseases for Mitochondrial Complex I Deficiency

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Diseases related to Mitochondrial Complex I Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial complex i deficiency due to acad9 deficiency12.4
2fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency12.1
3ndufaf5-related mitochondrial complex 1 deficiency12.0
4leigh syndrome11.6
5nephronophthisis-like nephropathy 111.0
6moloney syndrome10.3FOXRED1, NDUFS3
7myopathy with deficiency of iscu10.2FOXRED1, NDUFAF2, NDUFS3, NDUFS4
8lentigo maligna melanoma10.2MT-ND1, MT-ND3
9ndp-related retinopathies10.2FOXRED1, MT-ND1, MT-ND3, NDUFS3
10alopecia, androgenetic, 210.2MT-ND1, MT-ND3, NDUFA1, NDUFS4
11nkx2-1-related disorders10.2MT-ND1, MT-ND3, NDUFA1, NDUFS4
12mucinous intrahepatic cholangiocarcinoma10.2MT-ND3, NDUFA1, NDUFAF2, NDUFS1, NDUFS4, NDUFV1
13hereditary breast ovarian cancer10.1NDUFS3, NDUFS4
14osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome10.0FOXRED1, NDUFAF2, NDUFAF5, NDUFS1, NDUFS2, NDUFS3
15retinitis9.8
16lactic acidosis9.8
17bjornstad syndrome9.7FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
18optic nerve hypoplasia9.7
19neurofibromatosis, type 19.7
20hypophosphatemic rickets9.7
21charcot-marie-tooth disease9.7
22temporal lobe epilepsy9.7
23leukodystrophy9.7
24rickets9.7
25fanconi syndrome9.7
26tooth disease9.7
27dementia9.7
28epilepsy9.7
29lateral sclerosis9.7
30neurofibromatosis9.7
31encephalomyopathy9.7
32cardiomyopathy9.7
33fatal infantile lactic acidosis9.7
34encephalopathy9.7
35autoimmune interstitial lung, joint, and kidney disease9.5FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1

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



Diseases related to mitochondrial complex i deficiency

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency

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Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

Human phenotypes related to Mitochondrial Complex I Deficiency:

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 strabismus64 HP:0000486
3 ptosis64 HP:0000508
4 optic disc pallor64 HP:0000543
5 blindness64 HP:0000618
6 nystagmus64 HP:0000639
7 seizures64 HP:0001250
8 ataxia64 HP:0001251
9 muscular hypotonia64 HP:0001252
10 lethargy64 HP:0001254
11 spasticity64 HP:0001257
12 coma64 HP:0001259
13 global developmental delay64 HP:0001263
14 hyporeflexia64 HP:0001265
15 cerebellar atrophy64 HP:0001272
16 muscle weakness64 HP:0001324
17 hyperreflexia64 HP:0001347
18 hepatic failure64 HP:0001399
19 failure to thrive64 HP:0001508
20 growth delay64 HP:0001510
21 hypertrophic cardiomyopathy64 HP:0001639
22 hypoglycemia64 HP:0001943
23 vomiting64 HP:0002013
24 cerebral edema64 HP:0002181
25 developmental regression64 HP:0002376
26 leukodystrophy64 HP:0002415
27 increased csf lactate64 HP:0002490
28 respiratory failure64 HP:0002878
29 lactic acidosis64 HP:0003128
30 skeletal muscle atrophy64 HP:0003202
31 babinski sign64 HP:0003487
32 exercise intolerance64 HP:0003546
33 progressive macrocephaly64 HP:0004481
34 acute necrotizing encephalopathy64 HP:0006965
35 abnormal mitochondria in muscle tissue64 HP:0008316
36 feeding difficulties in infancy64 HP:0008872

UMLS symptoms related to Mitochondrial Complex I Deficiency:


ataxia, lethargy, muscle spasticity, seizures, vomiting, muscle weakness

GenomeRNAi Phenotypes related to Mitochondrial Complex I Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00251-A-210.2NDUFA1, NDUFA11, NDUFB9, NDUFS1, NDUFS2, NDUFS3
2GR00366-A-849.9NDUFA11, NDUFS1, NDUFV1
3GR00366-A-1929.5NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFV2, NDUFA1

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

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Drugs for Mitochondrial Complex I Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VitaminsPhase 35282
2Trace ElementsPhase 36001
3UbiquinonePhase 3145
4MicronutrientsPhase 36001
5Hypolipidemic AgentsPhase 2, Phase 32785
6Lipid Regulating AgentsPhase 2, Phase 32766
7Rosuvastatin CalciumPhase 2, Phase 3476147098-20-2
8Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 2, Phase 31998
9Anticholesteremic AgentsPhase 2, Phase 32025
10Calcium, DietaryPhase 2, Phase 35713
11AntimetabolitesPhase 2, Phase 312054
12
Coenzyme Q10experimental, NutraceuticalPhase 3121303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q-10
Coenzyme Q10
Ensorb
Kaneka Q10
 
Kudesan
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Trial of Coenzyme Q10 in Mitochondrial DiseaseCompletedNCT00432744Phase 3
2Effect of Rosuvastatin on Endothelial FunctionTerminatedNCT00986999Phase 2, Phase 3
3North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Mitochondrial Complex I Deficiency


Cochrane evidence based reviews: 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 Complex I Deficiency27
2 Mitochondrial Respiratory Chain Complex I Deficiency24
3 Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial Genes)24 MT-ND6
4 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear Genes)24 FOXRED1, NDUFA11, NDUFA5, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB3, NDUFB9, NDUFS2 (show all 16)

NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL

Anatomical Context for Mitochondrial Complex I Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

36
Liver, Skeletal muscle, Temporal lobe, Heart

Publications for Mitochondrial Complex I Deficiency

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Articles related to Mitochondrial Complex I Deficiency:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice. (28533980)
2017
2
Dementia in Parkinson's disease is associated with enhanced mitochondrial complex I deficiency. (26853899)
2016
3
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. (27126960)
2016
4
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. (27502960)
2016
5
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. (26134164)
2015
6
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. (26024641)
2015
7
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. (25652399)
2015
8
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. (25418441)
2015
9
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. (24522811)
2014
10
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. (24476218)
2014
11
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. (24895128)
2014
12
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. (24963768)
2014
13
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. (24711935)
2014
14
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. (23836946)
2013
15
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
16
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
17
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. (23378164)
2013
18
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. (23266820)
2013
19
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. (22036961)
2012
20
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. (20346082)
2012
21
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (22499348)
2012
22
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. (21757032)
2012
23
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. (22450425)
2012
24
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. (22099533)
2012
25
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. (22142868)
2012
26
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. (22474353)
2012
27
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. (21458341)
2011
28
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. (22188452)
2011
29
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. (20107904)
2011
30
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (19336460)
2009
31
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). (19089472)
2009
32
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (18306244)
2008
33
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. (18791645)
2008
34
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (18396137)
2008
35
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. (17985265)
2007
36
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. (15824269)
2005
37
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. (15372108)
2004
38
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. (12690563)
2003
39
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. (11743516)
2001
40
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (11349233)
2001
41
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. (10669207)
2000
42
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. (11079540)
2000
43
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
44
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. (10328281)
1999
45
Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. (9603924)
1998
46
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. (8755643)
1996
47
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. (8319712)
1993
48
Mitochondrial complex I deficiency in Parkinson's disease. (8420145)
1993
49
Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency. (1396914)
1992
50
Mitochondrial complex I deficiency in Parkinson's disease. (2154550)
1990

Variations for Mitochondrial Complex I Deficiency

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

70 (show all 35)
id Symbol AA change Variation ID SNP ID
1FOXRED1p.Asn430SerVAR_064571rs267606830
2FOXRED1p.Arg352TrpVAR_073273rs387907087
3MT-ND1p.Glu214LysVAR_073352rs199476123
4MT-ND3p.Ser45ProVAR_035091rs267606890
5MT-ND3p.Ala47ThrVAR_035092rs267606891
6MT-ND3p.Ser34ProVAR_064564rs199476117
7MT-ND5p.Phe124LeuVAR_035424rs267606893
8MT-ND5p.Ala236ThrVAR_035427rs267606898
9MT-ND5p.Met237LeuVAR_035428rs267606895
10MT-ND5p.Asp393AsnVAR_035430rs267606897
11MT-ND5p.Val253AlaVAR_064566
12MT-ND6p.Ala72ValVAR_004764rs199476105
13MT-ND6p.Met63ValVAR_064568rs199476109
14NDUFA1p.Gly8ArgVAR_035099rs104894884
15NDUFA1p.Arg37SerVAR_035100rs104894885
16NDUFAF3p.Gly77ArgVAR_058491rs121918134
17NDUFAF3p.Arg122ProVAR_058492rs121918135
18NDUFAF4p.Leu65ProVAR_044329rs63751061
19NDUFAF5p.Leu229ProVAR_054119rs118203929
20NDUFAF6p.Gln99ArgVAR_047770rs137853184
21NDUFAF6p.Asp69ValVAR_076272
22NDUFAF6p.Ser76ProVAR_076273
23NDUFAF6p.Ile124ThrVAR_076274rs201732170
24NDUFAF6p.His269AspVAR_076275rs768273248
25NDUFAF6p.Arg274GlyVAR_076276
26NDUFS1p.Arg241TrpVAR_019532rs199422225
27NDUFS1p.Asp252GlyVAR_019533rs199422224
28NDUFS2p.Arg228GlnVAR_019535rs121434427
29NDUFS2p.Pro229GlnVAR_019536rs121434428
30NDUFS2p.Ser413ProVAR_019537rs121434429
31NDUFS7p.Val122MetVAR_008848rs104894705
32NDUFV1p.Ala341ValVAR_008846rs121913660
33NDUFV1p.Glu214LysVAR_019534rs121913661
34NUBPLp.Asp105TyrVAR_069767rs397515440
35NUBPLp.Leu193PheVAR_069768

Clinvar genetic disease variations for Mitochondrial Complex I Deficiency:

5 (show all 74)
id Gene Variation Type Significance SNP ID Assembly Location
1NDUFA1NM_ 004541.3(NDUFA1): c.22G> C (p.Gly8Arg)SNVPathogenicrs104894884GRCh37Chr X, 119005896: 119005896
2NDUFA1NM_ 004541.3(NDUFA1): c.111G> C (p.Arg37Ser)SNVPathogenicrs104894885GRCh37Chr X, 119007275: 119007275
3NDUFA13NM_ 015965.6(NDUFA13): c.170G> A (p.Arg57His)SNVPathogenicrs752513525GRCh38Chr 19, 19526257: 19526257
4NDUFV1NM_ 007103.3(NDUFV1): c.1268C> T (p.Thr423Met)SNVPathogenicrs121913659GRCh37Chr 11, 67379696: 67379696
5NDUFV1NM_ 007103.3(NDUFV1): c.175C> T (p.Arg59Ter)SNVPathogenicrs768050261GRCh38Chr 11, 67608571: 67608571
6NDUFV1NM_ 007103.3(NDUFV1): c.640G> A (p.Glu214Lys)SNVPathogenicrs121913661GRCh37Chr 11, 67377981: 67377981
7NDUFV1NDUFV1, IVS8DS, A-C, +4SNVPathogenic
8NDUFS1NM_ 005006.6(NDUFS1): c.666_ 668delCAT (p.Ile223del)deletionPathogenicrs397515383GRCh37Chr 2, 207011696: 207011698
9NDUFS1NM_ 005006.6(NDUFS1): c.755A> G (p.Asp252Gly)SNVPathogenicrs199422224GRCh37Chr 2, 207009733: 207009733
10NDUFS1NM_ 005006.6(NDUFS1): c.721C> T (p.Arg241Trp)SNVPathogenicrs199422225GRCh37Chr 2, 207011643: 207011643
11NDUFS1NM_ 005006.6(NDUFS1): c.691C> G (p.Leu231Val)SNVPathogenicrs199422226GRCh37Chr 2, 207011673: 207011673
12NDUFAF2NM_ 174889.4(NDUFAF2): c.139C> T (p.Arg47Ter)SNVPathogenicrs137852863GRCh37Chr 5, 60368963: 60368963
13NUBPLNM_ 025152.2(NUBPL): c.311T> C (p.Leu104Pro)SNVPathogenic/ Likely pathogenicrs201430951GRCh37Chr 14, 32068514: 32068514
14TMEM126BNM_ 018480.5(TMEM126B): c.401delA (p.Asn134Ilefs)deletionPathogenicrs886037835GRCh37Chr 11, 85346714: 85346714
15TMEM126BNM_ 018480.5(TMEM126B): c.635G> T (p.Gly212Val)SNVPathogenicrs141542003GRCh37Chr 11, 85347215: 85347215
16TMEM126BNM_ 018480.5(TMEM126B): c.397G> A (p.Asp133Asn)SNVPathogenicrs573006534GRCh37Chr 11, 85345323: 85345323
17TMEM126BNM_ 018480.5(TMEM126B): c.208C> T (p.Gln70Ter)SNVPathogenicrs886037857GRCh37Chr 11, 85345134: 85345134
18NDUFB3NDUFB3, TRP22ARGSNVPathogenic
19NDUFAF1NM_ 016013.3(NDUFAF1): c.619A> C (p.Thr207Pro)SNVPathogenicrs387906956GRCh37Chr 15, 41687197: 41687197
20NDUFAF1NM_ 016013.3(NDUFAF1): c.758A> G (p.Lys253Arg)SNVPathogenicrs387906957GRCh37Chr 15, 41687058: 41687058
21NDUFAF1NM_ 016013.3(NDUFAF1): c.631C> T (p.Arg211Cys)SNVPathogenicrs387906958GRCh37Chr 15, 41687185: 41687185
22NDUFAF1NDUFAF1, GLY245ARGundetermined variantPathogenic
23FOXRED1NM_ 017547.3(FOXRED1): c.1054C> T (p.Arg352Trp)SNVPathogenicrs387907087GRCh37Chr 11, 126146371: 126146371
24NDUFS1NM_ 005006.6(NDUFS1): c.1783A> G (p.Thr595Ala)SNVPathogenicrs387907199GRCh37Chr 2, 206992622: 206992622
25NDUFB11NM_ 019056.6(NDUFB11): c.391G> A (p.Glu131Lys)SNVPathogenicrs1057519073GRCh38Chr X, 47142418: 47142418
26NDUFA10NM_ 004544.3(NDUFA10): c.881T> C (p.Leu294Pro)SNVPathogenicrs1057519414GRCh37Chr 2, 240944636: 240944636
27NDUFA10NM_ 004544.3(NDUFA10): c.384_ 385insAAT (p.Ser128_ Tyr129insAsn)insertionPathogenicrs1057519415GRCh37Chr 2, 240960689: 240960690
28NDUFAF5NM_ 024120.4(NDUFAF5): c.749G> T (p.Gly250Val)SNVPathogenic/ Likely pathogenicrs757043077GRCh37Chr 20, 13789519: 13789519
29NDUFS8NM_ 002496.3(NDUFS8): c.229C> T (p.Arg77Trp)SNVPathogenicrs146766138GRCh37Chr 11, 67800607: 67800607
30NDUFS8NM_ 002496.3(NDUFS8): c.476C> A (p.Ala159Asp)SNVPathogenicrs397514617GRCh37Chr 11, 67803823: 67803823
31NDUFS8NM_ 002496.3(NDUFS8): c.187G> C (p.Glu63Gln)SNVPathogenicrs397514618GRCh37Chr 11, 67800467: 67800467
32NDUFB3NM_ 002491.2(NDUFB3): c.208G> T (p.Gly70Ter)SNVPathogenic/ Likely pathogenicrs200800978GRCh37Chr 2, 201950249: 201950249
33NDUFS4NM_ 002495.3(NDUFS4): c.462delA (p.Lys154Asnfs)deletionPathogenicrs587776949GRCh38Chr 5, 53683155: 53683155
34NDUFAF3NM_ 199074.1(NDUFAF3): c.58G> C (p.Gly20Arg)SNVPathogenicrs121918134GRCh37Chr 3, 49059930: 49059930
35NDUFAF3NM_ 199074.1(NDUFAF3): c.194G> C (p.Arg65Pro)SNVPathogenicrs121918135GRCh37Chr 3, 49060336: 49060336
36NDUFAF3NM_ 199069.1(NDUFAF3): c.2T> C (p.Met1Thr)SNVPathogenicrs121918136GRCh37Chr 3, 49059579: 49059579
37FOXRED1NM_ 017547.3(FOXRED1): c.694C> T (p.Gln232Ter)SNVPathogenicrs267606829GRCh37Chr 11, 126145284: 126145284
38NUBPLNM_ 025152.2(NUBPL): c.667_ 668insCCTTGTGCTG (p.Glu223Alafs)insertionPathogenicrs879255565GRCh37Chr 14, 32295894: 32295895
39NUBPLNM_ 025152.2(NUBPL): c.313G> T (p.Asp105Tyr)SNVPathogenicrs397515440GRCh37Chr 14, 32068516: 32068516
40NUBPLNM_ 025152.2(NUBPL): c.693+1G> ASNVPathogenicrs751631278GRCh37Chr 14, 32295921: 32295921
41NUBPLNM_ 025152.2(NUBPL): c.579A> C (p.Leu193Phe)SNVPathogenicrs552722349GRCh37Chr 14, 32257051: 32257051
42NDUFS1NM_ 005006.6(NDUFS1): c.1855G> A (p.Asp619Asn)SNVPathogenicrs397515447GRCh38Chr 2, 206127826: 206127826
43NDUFS1NM_ 005006.6(NDUFS1): c.1669C> T (p.Arg557Ter)SNVPathogenicrs372691318GRCh37Chr 2, 206994851: 206994851
44NDUFS1NM_ 005006.6(NDUFS1): c.1222C> T (p.Arg408Cys)SNVPathogenicrs149271416GRCh38Chr 2, 206141981: 206141981
45NDUFA11NDUFA11, IVS1DS, G-A, +5SNVPathogenic
46NDUFAF5NM_ 024120.4(NDUFAF5): c.686T> C (p.Leu229Pro)SNVPathogenicrs118203929GRCh37Chr 20, 13782298: 13782298
47NDUFAF5NM_ 024120.4(NDUFAF5): c.477A> C (p.Leu159Phe)SNVPathogenicrs267606689GRCh37Chr 20, 13775585: 13775585
48FOXRED1NM_ 017547.3(FOXRED1): c.1289A> G (p.Asn430Ser)SNVPathogenicrs267606830GRCh37Chr 11, 126147412: 126147412
49NDUFS6NDUFS6, IVS2DS, T-A, +2SNVPathogenic
50NDUFS6NG_ 013354.1: g.16053_ 20227del4175deletionPathogenicGRCh38Chr 5, 1812434: 1816608
51NDUFS6NM_ 004553.4(NDUFS6): c.344G> A (p.Cys115Tyr)SNVPathogenicrs267606913GRCh37Chr 5, 1815999: 1815999
52NDUFS3NM_ 004551.2(NDUFS3): c.595C> T (p.Arg199Trp)SNVPathogenicrs104894270GRCh37Chr 11, 47603988: 47603988
53NDUFB9NM_ 005005.2(NDUFB9): c.191T> C (p.Leu64Pro)SNVPathogenicrs776388520GRCh37Chr 8, 125555417: 125555417
54NDUFS2NM_ 004550.4(NDUFS2): c.683G> A (p.Arg228Gln)SNVPathogenicrs121434427GRCh37Chr 1, 161179702: 161179702
55NDUFS2NM_ 004550.4(NDUFS2): c.686C> A (p.Pro229Gln)SNVPathogenicrs121434428GRCh37Chr 1, 161179705: 161179705
56NDUFS2NM_ 004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)SNVPathogenicrs121434429GRCh37Chr 1, 161183463: 161183463
57NDUFS4NDUFS4, 5-BP DUPduplicationPathogenic
58NDUFS4NM_ 002495.3(NDUFS4): c.291delG (p.Trp97Terfs)deletionPathogenicrs121908985GRCh37Chr 5, 52942176: 52942176
59NDUFS4NM_ 002495.3(NDUFS4): c.44G> A (p.Trp15Ter)SNVPathogenicrs104893899GRCh37Chr 5, 52856536: 52856536
60NDUFS8NM_ 002496.3(NDUFS8): c.236C> T (p.Pro79Leu)SNVPathogenic/ Likely pathogenicrs28939679GRCh37Chr 11, 67800614: 67800614
61NDUFS8NM_ 002496.3(NDUFS8): c.254C> T (p.Pro85Leu)SNVPathogenicrs121912639GRCh37Chr 11, 67800632: 67800632
62NDUFS8NM_ 002496.3(NDUFS8): c.413G> A (p.Arg138His)SNVPathogenicrs111033588GRCh37Chr 11, 67803760: 67803760
63NDUFAF4NM_ 014165.3(NDUFAF4): c.194T> C (p.Leu65Pro)SNVPathogenicrs63751061GRCh37Chr 6, 97344666: 97344666
64NUBPLNC_ 000014.9: g.(31394019_ 31414809)_ (31654321_ 31655889)deldeletionPathogenicNCBI36Chr 14, 30932976: 31194846
65NDUFV2NDUFV2, 4-BP DEL, NT5deletionPathogenic
66FOXRED1NM_ 017547.3(FOXRED1): c.612_ 615dupAGTG (p.Ala206Serfs)duplicationPathogenic/ Likely pathogenicrs398124308GRCh37Chr 11, 126144897: 126144900
67MT-TNm.5728T> CSNVPathogenicrs199476132GRCh37Chr MT, 5728: 5728
68MT-ND4m.11777C> ASNVPathogenicrs28384199GRCh37Chr MT, 11777: 11777
69MT-ND3m.10191T> CSNVPathogenicrs267606890GRCh37Chr MT, 10191: 10191
70MT-ND3m.10158T> CSNVPathogenicrs199476117GRCh37Chr MT, 10158: 10158
71MT-ND2m.5132_ 5133delAAdeletionPathogenicrs199476116GRCh37Chr MT, 5132: 5133
72MT-ND2m.4810G> ASNVPathogenicrs267606888GRCh37Chr MT, 4810: 4810
73MT-ND1NC_ 012920.1: m.3460G> ASNVPathogenicrs199476118GRCh37Chr MT, 3460: 3460
74MT-ND1m.3902_ 3908invACCTTGCinversionPathogenicGRCh37Chr MT, 3902: 3908

Expression for genes affiliated with Mitochondrial Complex I Deficiency

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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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:000575910.8NDUFS1, NDUFS2, NDUFS3, NUBPL
2mitochondrial membraneGO:003196610.6MT-ND1, MT-ND3, NDUFA1, NDUFAF4, NDUFS3
3myelin sheathGO:004320910.6NDUFS1, NDUFS3, NDUFV2
4mitochondrial respiratory chain complex IGO:00057479.6FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1
5membraneGO:00160209.3FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
6mitochondrionGO:00057399.2FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1
7mitochondrial inner membraneGO:00057439.2FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1
8respiratory chainGO:00704698.9FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFB3

Biological processes related to Mitochondrial Complex I Deficiency according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial ATP synthesis coupled electron transportGO:004277511.0NDUFS2, NDUFV1
2mitochondrion morphogenesisGO:007058411.0NDUFS6, NUBPL
3electron transport chainGO:002290010.9NDUFB3, NDUFS4
4cellular respirationGO:004533310.6MT-ND1, NDUFAF2, NDUFS1, NDUFS3, NDUFS4
5reactive oxygen species metabolic processGO:007259310.4NDUFAF2, NDUFS1, NDUFS3, NDUFS4
6respiratory electron transport chainGO:002290410.2NDUFAF2, NDUFS6
7mitochondrial electron transport, NADH to ubiquinoneGO:00061209.6MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1, NDUFB3
8oxidation-reduction processGO:00551149.3FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF5
9mitochondrial respiratory chain complex I assemblyGO:00329819.0FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1

Molecular functions related to Mitochondrial Complex I Deficiency according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:005153710.9NDUFS1, NDUFV2
2NADH dehydrogenase activityGO:000395410.9NDUFS2, NDUFS3
34 iron, 4 sulfur cluster bindingGO:005153910.8NDUFS1, NDUFS2, NDUFV1, NUBPL
4iron-sulfur cluster bindingGO:005153610.7NDUFS1, NDUFS2, NDUFV1, NDUFV2, NUBPL
5electron carrier activityGO:000905510.5NDUFAF2, NDUFS1, NDUFS2, NDUFS3, NDUFS6, NDUFV2
6oxidoreductase activity, acting on NAD(P)HGO:001665110.0NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFV1
7oxidoreductase activityGO:00164919.8FOXRED1, MT-ND1, MT-ND3, NDUFAF5, NDUFS1, NDUFS2
8NADH dehydrogenase (ubiquinone) activityGO:00081379.7MT-ND1, MT-ND3, NDUFA1, NDUFAF2, NDUFB3, NDUFB9

Sources for Mitochondrial Complex I Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet