MCID: MTC007
MIFTS: 57

Mitochondrial Complex I Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Mitochondrial Complex I Deficiency

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Aliases & Descriptions for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 49 45 47 65 67
Complex 1 Mitochondrial Respiratory Chain Deficiency 45 22 67
Nadh:q(1) Oxidoreductase Deficiency 45 65 67
Mitochondrial Complex 1 Deficiency 49 22 24
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 45
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 67
 
Complex I Mitochondrial Respiratory Chain Deficiency 67
Nadh:ubiquinone Oxidoreductase Deficiency 67
Nadh Coenzyme Q Reductase Deficiency 45
Nadh-Coenzyme Q Reductase Deficiency 67
Mt-C1d 67


Classifications:



External Ids:

OMIM49 252010
MeSH36 D017237

Summaries for Mitochondrial Complex I Deficiency

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OMIM:49 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 complex 1 mitochondrial respiratory chain deficiency, is related to leigh syndrome and mitochondrial complex i deficiency due to acad9 deficiency, and has symptoms including autosomal recessive inheritance, sensorineural hearing impairment and strabismus. An important gene associated with Mitochondrial Complex I Deficiency is FOXRED1 (FAD-Dependent Oxidoreductase Domain Containing 1), and among its related pathways are Metformin Pathway, Pharmacodynamics and Alzheimers disease. Affiliated tissues include liver, skeletal muscle and temporal lobe.

NIH Rare Diseases:45 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:67 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 34)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome29.8FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
2mitochondrial complex i deficiency due to acad9 deficiency10.6
3fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency10.5
4melas syndrome10.5
5ndufaf5-related mitochondrial complex 1 deficiency10.4
6lactic acidosis10.3
7retinitis10.3
8dyssynergia cerebellaris progressiva10.2MT-ND3, NDUFAF5
9mitral valve disease10.2MT-ND3, NDUFAF5, NDUFV1
10leber miliary aneurysm10.2MT-ND1, MT-ND3
11ciliary body disease10.2NDUFS3, NDUFS4
12optic nerve hypoplasia10.2
13neurofibromatosis, type 110.2
14hypophosphatemic rickets10.2
15charcot-marie-tooth disease10.2
16temporal lobe epilepsy10.2
17fanconi syndrome10.2
18lateral sclerosis10.2
19rickets10.2
20neurofibromatosis10.2
21leukodystrophy10.2
22tooth disease10.2
23encephalomyopathy10.2
24cardiomyopathy10.2
25fatal infantile lactic acidosis10.2
26encephalopathy10.2
27migraine, familial typical 210.2MT-ND1, MT-ND3
28mitochondrial disorders10.1FOXRED1, MT-ND1, MT-ND3, NDUFS3
29mitochondrial membrane protein-associated neurodegeneration10.1MT-ND1, MT-ND3, NDUFA1, NDUFS4
30mitochondrial dna-associated leigh syndrome and narp10.1FOXRED1, NDUFAF2, NDUFS3, NDUFS4
31matsoukas liarikos giannika syndrome10.1MT-ND1, MT-ND3
32oculodental syndrome, rutherfurd type9.7FOXRED1, NDUFAF2, NDUFAF5, NDUFS1, NDUFS2, NDUFS3
33clear cell basal cell carcinoma9.5FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
34mitochondrial complex i deficiency8.7FOXRED1, 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 for Mitochondrial Complex I Deficiency

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Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1UbiquinonePhase 390
2
Coenzyme Q10NutraceuticalPhase 3101303-98-05281915
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 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
2North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

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 Deficiency22
2 Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial Genes)22 MT-ND6
3 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear Genes)22 NUBPL
4 Mitochondrial Complex I Deficiency24

Anatomical Context for Mitochondrial Complex I Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

33
Liver, Skeletal muscle, Temporal lobe, Heart

Animal Models for Mitochondrial Complex I Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Mitochondrial Complex I Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Mitochondrial Complex I Deficiency

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Articles related to Mitochondrial Complex I Deficiency:

(show all 48)
idTitleAuthorsYear
1
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. (25418441)
2015
2
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. (26134164)
2015
3
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. (26024641)
2015
4
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. (25652399)
2015
5
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. (24963768)
2014
6
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. (24522811)
2014
7
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. (24895128)
2014
8
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. (24711935)
2014
9
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. (24476218)
2014
10
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. (23266820)
2013
11
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. (23378164)
2013
12
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
13
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. (23836946)
2013
14
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
15
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (22499348)
2012
16
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. (22036961)
2012
17
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. (22450425)
2012
18
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. (21757032)
2012
19
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. (20346082)
2012
20
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. (22099533)
2012
21
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. (22474353)
2012
22
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. (22142868)
2012
23
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. (21458341)
2011
24
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. (20107904)
2011
25
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. (22188452)
2011
26
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (19336460)
2009
27
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). (19089472)
2009
28
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (18396137)
2008
29
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. (18791645)
2008
30
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (18306244)
2008
31
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. (17985265)
2007
32
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. (15824269)
2005
33
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. (15372108)
2004
34
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. (12690563)
2003
35
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. (11743516)
2001
36
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (11349233)
2001
37
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. (11079540)
2000
38
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. (10669207)
2000
39
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
40
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. (10328281)
1999
41
Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. (9603924)
1998
42
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. (8755643)
1996
43
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. (8319712)
1993
44
Mitochondrial complex I deficiency in Parkinson's disease. (8420145)
1993
45
Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency. (1396914)
1992
46
Mitochondrial complex I deficiency in Parkinson's disease. (2154550)
1990
47
Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein. (2512443)
1989
48
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:

67 (show all 28)
id Symbol AA change Variation ID SNP ID
1FOXRED1p.Asn430SerVAR_064571
2FOXRED1p.Arg352TrpVAR_073273
3MT-ND1p.Glu214LysVAR_073352
4MT-ND3p.Ser45ProVAR_035091
5MT-ND3p.Ala47ThrVAR_035092
6MT-ND3p.Ser34ProVAR_064564
7MT-ND5p.Phe124LeuVAR_035424
8MT-ND5p.Asp393AsnVAR_035430
9MT-ND5p.Val253AlaVAR_064566
10MT-ND6p.Ala72ValVAR_004764
11MT-ND6p.Met63ValVAR_064568
12NDUFA1p.Gly8ArgVAR_035099
13NDUFA1p.Arg37SerVAR_035100
14NDUFAF3p.Gly77ArgVAR_058491
15NDUFAF3p.Arg122ProVAR_058492
16NDUFAF4p.Leu65ProVAR_044329
17NDUFAF5p.Leu229ProVAR_054119
18NDUFAF6p.Gln99ArgVAR_047770
19NDUFS1p.Arg241TrpVAR_019532
20NDUFS1p.Asp252GlyVAR_019533
21NDUFS2p.Arg228GlnVAR_019535
22NDUFS2p.Pro229GlnVAR_019536
23NDUFS2p.Ser413ProVAR_019537
24NDUFS7p.Val122MetVAR_008848
25NDUFV1p.Ala341ValVAR_008846
26NDUFV1p.Glu214LysVAR_019534
27NUBPLp.Asp105TyrVAR_069767
28NUBPLp.Leu193PheVAR_069768

Clinvar genetic disease variations for Mitochondrial Complex I Deficiency:

5 (show all 68)
id Gene Variation 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
13NUBPLNM_025152.2(NUBPL): c.311T> C (p.Leu104Pro)single nucleotide variantLikely pathogenicrs201430951GRCh37Chr 14, 32068514: 32068514
14NDUFB3NDUFB3, TRP22ARGsingle nucleotide variantPathogenic
15NDUFAF1NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro)single nucleotide variantPathogenicrs387906956GRCh37Chr 15, 41687197: 41687197
16NDUFAF1NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg)single nucleotide variantPathogenicrs387906957GRCh37Chr 15, 41687058: 41687058
17NDUFAF1NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs387906958GRCh37Chr 15, 41687185: 41687185
18NDUFAF1NDUFAF1, GLY245ARGundetermined variantPathogenic
19FOXRED1NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs387907087GRCh37Chr 11, 126146371: 126146371
20NDUFS1NM_005006.6(NDUFS1): c.1783A> G (p.Thr595Ala)single nucleotide variantPathogenicrs387907199GRCh37Chr 2, 206992622: 206992622
21NDUFA1NM_004541.3(NDUFA1): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs1801316GRCh37Chr X, 119005968: 119005968
22NDUFS8NM_002496.3(NDUFS8): c.229C> T (p.Arg77Trp)single nucleotide variantPathogenicrs146766138GRCh37Chr 11, 67800607: 67800607
23NDUFS8NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp)single nucleotide variantPathogenicrs397514617GRCh37Chr 11, 67803823: 67803823
24NDUFS8NM_002496.3(NDUFS8): c.187G> C (p.Glu63Gln)single nucleotide variantPathogenicrs397514618GRCh37Chr 11, 67800467: 67800467
25NDUFB3NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter)single nucleotide variantPathogenicrs200800978GRCh37Chr 2, 201950249: 201950249
26NDUFS4NM_002495.2(NDUFS4): c.462delA (p.Lys154Asnfs)deletionPathogenicrs587776949GRCh38Chr 5, 53683155: 53683155
27NDUFAF3NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg)single nucleotide variantPathogenicrs121918134GRCh37Chr 3, 49059930: 49059930
28NDUFAF3NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro)single nucleotide variantPathogenicrs121918135GRCh37Chr 3, 49060336: 49060336
29NDUFAF3NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121918136GRCh37Chr 3, 49059579: 49059579
30FOXRED1NM_017547.3(FOXRED1): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs267606829GRCh37Chr 11, 126145284: 126145284
31NUBPLNUBPL, 10-BP INS, NT667insertionPathogenic
32NUBPLNM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr)single nucleotide variantPathogenicrs397515440GRCh37Chr 14, 32068516: 32068516
33NUBPLNUBPL, IVS8DS, G-A, +1single nucleotide variantPathogenic
34NUBPLNUBPL, LEU193PHEundetermined variantPathogenic
35NDUFS1NM_005006.6(NDUFS1): c.1855G> A (p.Asp619Asn)single nucleotide variantPathogenicrs397515447GRCh37Chr 2, 206992550: 206992550
36NDUFS1NM_005006.6(NDUFS1): c.1669C> T (p.Arg557Ter)single nucleotide variantPathogenicrs372691318GRCh37Chr 2, 206994851: 206994851
37NDUFS1NM_005006.6(NDUFS1): c.1222C> T (p.Arg408Cys)single nucleotide variantPathogenicrs149271416GRCh37Chr 2, 207006705: 207006705
38NDUFA11NDUFA11, IVS1DS, G-A, +5single nucleotide variantPathogenic
39NDUFAF5NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro)single nucleotide variantPathogenicrs118203929GRCh37Chr 20, 13782298: 13782298
40NDUFAF5NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe)single nucleotide variantPathogenicrs267606689GRCh37Chr 20, 13775585: 13775585
41FOXRED1NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser)single nucleotide variantPathogenicrs267606830GRCh37Chr 11, 126147412: 126147412
42NDUFS6NDUFS6, IVS2DS, T-A, +2single nucleotide variantPathogenic
43NDUFS6NG_013354.1: g.16053_20227del4175deletionPathogenicGRCh38Chr 5, 1812434: 1816608
44NDUFS6NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr)single nucleotide variantPathogenicrs267606913GRCh37Chr 5, 1815999: 1815999
45NDUFS3NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp)single nucleotide variantPathogenicrs104894270GRCh37Chr 11, 47603988: 47603988
46NDUFB9NDUFB9, LEU64PROsingle nucleotide variantPathogenic
47NDUFS2NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln)single nucleotide variantPathogenicrs121434427GRCh37Chr 1, 161179702: 161179702
48NDUFS2NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs121434428GRCh37Chr 1, 161179705: 161179705
49NDUFS2NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)single nucleotide variantPathogenicrs121434429GRCh37Chr 1, 161183463: 161183463
50NDUFS4NDUFS4, 5-BP DUPduplicationPathogenic
51NDUFS4NM_002495.2(NDUFS4): c.291delG (p.Trp97Terfs)deletionPathogenicrs121908985GRCh37Chr 5, 52942176: 52942176
52NDUFS4NM_002495.2(NDUFS4): c.44G> A (p.Trp15Ter)single nucleotide variantPathogenicrs104893899GRCh37Chr 5, 52856536: 52856536
53NDUFS8NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu)single nucleotide variantPathogenicrs28939679GRCh37Chr 11, 67800614: 67800614
54NDUFS8NM_002496.3(NDUFS8): c.305G> A (p.Arg102His)single nucleotide variantPathogenicrs121912638GRCh37Chr 11, 67800683: 67800683
55NDUFS8NM_002496.3(NDUFS8): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121912639GRCh37Chr 11, 67800632: 67800632
56NDUFS8NM_002496.3(NDUFS8): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs111033588GRCh37Chr 11, 67803760: 67803760
57NDUFAF4NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro)single nucleotide variantPathogenicrs63751061GRCh37Chr 6, 97344666: 97344666
58NC_000014.9deletionPathogenicGRCh37Chr 14, 31863225: 32125095
59NDUFV2NDUFV2, 4-BP DEL, NT5deletionPathogenic
60FOXRED1NM_017547.3(FOXRED1): c.612_615dupAGTG (p.Ala206Serfs)duplicationLikely pathogenic, Pathogenicrs398124308GRCh37Chr 11, 126144897: 126144900
61MT-TNm.5728T> Csingle nucleotide variantPathogenicrs199476132GRCh37Chr MT, 5728: 5728
62MT-ND4m.11777C> Asingle nucleotide variantPathogenicrs28384199GRCh37Chr MT, 11777: 11777
63MT-ND3m.10191T> Csingle nucleotide variantPathogenicrs267606890GRCh37Chr MT, 10191: 10191
64MT-ND3m.10158T> Csingle nucleotide variantPathogenicrs199476117GRCh37Chr MT, 10158: 10158
65MT-ND2m.5132_5133delAAdeletionPathogenicrs199476116GRCh37Chr MT, 5132: 5133
66MT-ND2m.4810G> Asingle nucleotide variantPathogenicrs267606888GRCh37Chr MT, 4810: 4810
67MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
68MT-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 membraneGO:003196610.2MT-ND1, NDUFA1, NDUFAF4, NDUFS3
2myelin sheathGO:00432099.6NDUFS1, NDUFS3, NDUFV2
3mitochondrial respiratory chain complex IGO:00057478.3FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1
4mitochondrial inner membraneGO:00057437.4FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
5mitochondrionGO:00057397.1FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1mitochondrion morphogenesisGO:007058410.7NDUFS6, NUBPL
2electron transport chainGO:002290010.6NDUFB3, NDUFS4
3cellular respirationGO:004533310.5NDUFAF2, NDUFS1, NDUFS4
4mitochondrial respiratory chain complex I assemblyGO:003298110.2FOXRED1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS4, NUBPL
5reactive oxygen species metabolic processGO:00725939.7NDUFAF2, NDUFS1, NDUFS3, NDUFS4
6oxidation-reduction processGO:00551149.0FOXRED1, MT-ND1, MT-ND3, NDUFS1, NDUFS2, NDUFS3
7mitochondrial electron transport, NADH to ubiquinoneGO:00061208.7MT-ND1, MT-ND3, NDUFA1, NDUFAF1, NDUFB3, NDUFB9
8respiratory electron transport chainGO:00229047.8MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2, NDUFAF3
9cellular metabolic processGO:00442377.8MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2, NDUFAF3
10small molecule metabolic processGO:00442817.3MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2, NDUFAF3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase activityGO:000395410.4NDUFS2, NDUFS3, NDUFV1
2NAD bindingGO:005128710.4NDUFS2, NDUFV1
32 iron, 2 sulfur cluster bindingGO:005153710.3NDUFS1, NDUFV2
4oxidoreductase activity, acting on NAD(P)HGO:001665110.1NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFV1
54 iron, 4 sulfur cluster bindingGO:00515399.6NDUFS1, NDUFS2, NDUFV1, NUBPL
6electron carrier activityGO:00090559.5NDUFS1, NDUFS2, NDUFS3, NDUFS6, NDUFV2
7NADH dehydrogenase (ubiquinone) activityGO:00081378.4MT-ND1, MT-ND3, NDUFA1, NDUFAF2, NDUFB3, NDUFB9

Sources for Mitochondrial Complex I Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet