MCID: MTC007
MIFTS: 61

Mitochondrial Complex I Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency

About this section

Aliases & Descriptions for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 50 11 46 23 13 68 48 37 66
Nadh:q(1) Oxidoreductase Deficiency 46 68 66
Complex 1 Mitochondrial Respiratory Chain Deficiency 46 68
Mitochondrial Complex 1 Deficiency 50 25
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 46
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 68
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 11
Complex I, Mitochondrial Respiratory Chain, Deficiency of 12
Mitochondrial Respiratory Chain Complex I Deficiency 23
 
Complex I Mitochondrial Respiratory Chain Deficiency 68
Isolated Nadh-Coenzyme Q Reductase Deficiency 11
Isolated Nadh-Ubiquinone Reductase Deficiency 11
Nadh:ubiquinone Oxidoreductase Deficiency 68
Isolated Nadh-Coq Reductase Deficiency 11
Nadh-Coenzyme Q Reductase Deficiency 68
Nadh Coenzyme Q Reductase Deficiency 46
Mt-C1d 68

Characteristics:

HPO:

62
mitochondrial complex i deficiency:
Inheritance: autosomal recessive inheritance, x-linked dominant inheritance, mitochondrial inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 252010
Disease Ontology11 DOID:0060536

Summaries for Mitochondrial Complex I Deficiency

About this section
OMIM:50 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 leigh syndrome and mitochondrial complex i deficiency due to acad9 deficiency, and has symptoms including ataxia, ataxia and lethargy. An important gene associated with Mitochondrial Complex I Deficiency is NUBPL (Nucleotide Binding Protein Like), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamics. Affiliated tissues include liver, skeletal muscle and endothelial.

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 be caused by mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.

NIH Rare Diseases:46 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:68 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

About this section

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome30.7FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
2mitochondrial complex i deficiency due to acad9 deficiency12.3
3fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency12.2
4ndufaf5-related mitochondrial complex 1 deficiency12.1
5noninfectious dermatoses of eyelid10.5MT-ND1, NDUFA1
6extragonadal nonseminomatous germ cell tumor10.5NDUFS3, NDUFS4
7mitochondrial disorders10.4FOXRED1, NDUFAF2, NDUFS3, NDUFS4
8childhood cerebral astrocytoma10.4MT-ND3, NDUFA1, NDUFS1, NDUFS4, NDUFV1
9lumbar malsegmentation short stature10.4FOXRED1, NDUFAF2, NDUFS3, NDUFS4
10mitochondrial membrane protein-associated neurodegeneration10.3FOXRED1, MT-ND1, MT-ND3, NDUFS3
11paroxysomal nonkinesigenic dyskinesia10.3MT-ND1, MT-ND3
12cerebellar ataxia10.0
13ohtahara syndrome10.0
14hypogonadism10.0
15landau-kleffner syndrome10.0
16influenza10.0
17retinitis9.9
18lactic acidosis9.9
19malignant perineurioma9.8FOXRED1, NDUFAF2, NDUFAF5, NDUFS1, NDUFS2, NDUFS3
20optic nerve hypoplasia9.8
21neurofibromatosis, type 19.8
22hypophosphatemic rickets9.8
23charcot-marie-tooth disease9.8
24temporal lobe epilepsy9.8
25leukodystrophy9.8
26rickets9.8
27fanconi syndrome9.8
28tooth disease9.8
29dementia9.8
30epilepsy9.8
31lateral sclerosis9.8
32neurofibromatosis9.8
33encephalomyopathy9.8
34cardiomyopathy9.8
35fatal infantile lactic acidosis9.8
36encephalopathy9.8
37esophageal basaloid squamous cell carcinoma9.4FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
38mitochondrial complex i deficiency8.0FOXRED1, 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

About this section

Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

HPO human phenotypes related to Mitochondrial Complex I Deficiency:

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

UMLS symptoms related to Mitochondrial Complex I Deficiency:


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

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1UbiquinonePhase 3132
2Rosuvastatin CalciumPhase 2, Phase 3440147098-20-2
3
Coenzyme Q10NutraceuticalPhase 3108303-98-05281915
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

About this section

Genetic tests related to Mitochondrial Complex I Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency25
2 Mitochondrial Respiratory Chain Complex I Deficiency23
3 Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial Genes)23 MT-ND6
4 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear Genes)23 FOXRED1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB3, NDUFB9, NDUFS2, NDUFS3 (show all 15)

NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL

Anatomical Context for Mitochondrial Complex I Deficiency

About this section

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

34
Liver, Skeletal muscle, Endothelial, Temporal lobe, Heart

Animal Models for Mitochondrial Complex I Deficiency or affiliated genes

About this section

Publications for Mitochondrial Complex I Deficiency

About this section

Articles related to Mitochondrial Complex I Deficiency:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. (27126960)
2016
2
Dementia in Parkinson's disease is associated with enhanced mitochondrial complex I deficiency. (26853899)
2016
3
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. (27502960)
2016
4
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. (26134164)
2015
5
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. (25652399)
2015
6
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. (25418441)
2015
7
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. (26024641)
2015
8
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. (24522811)
2014
9
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. (24895128)
2014
10
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. (24711935)
2014
11
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. (24963768)
2014
12
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. (24476218)
2014
13
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
14
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
15
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. (23266820)
2013
16
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. (23378164)
2013
17
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. (23836946)
2013
18
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. (22099533)
2012
19
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (22499348)
2012
20
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. (22036961)
2012
21
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. (22450425)
2012
22
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. (21757032)
2012
23
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. (20346082)
2012
24
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. (22474353)
2012
25
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. (22142868)
2012
26
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. (22188452)
2011
27
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. (21458341)
2011
28
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. (20107904)
2011
29
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (19336460)
2009
30
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). (19089472)
2009
31
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (18396137)
2008
32
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. (18791645)
2008
33
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. (17985265)
2007
34
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. (15824269)
2005
35
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. (15372108)
2004
36
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. (12690563)
2003
37
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (11349233)
2001
38
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. (11743516)
2001
39
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. (11079540)
2000
40
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. (10669207)
2000
41
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. (10328281)
1999
42
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
43
Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. (9603924)
1998
44
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. (8755643)
1996
45
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. (8319712)
1993
46
Mitochondrial complex I deficiency in Parkinson's disease. (8420145)
1993
47
Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency. (1396914)
1992
48
Mitochondrial complex I deficiency in Parkinson's disease. (2154550)
1990
49
Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein. (2512443)
1989
50
Mitochondrial complex I deficiency in Parkinson's disease. (2566813)
1989

Variations for Mitochondrial Complex I Deficiency

About this section

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

68 (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_076274
24NDUFAF6p.His269AspVAR_076275
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 72)
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
3NDUFA13NM_015965.6(NDUFA13): c.170G> A (p.Arg57His)single nucleotide variantPathogenicrs752513525GRCh38Chr 19, 19526257: 19526257
4NDUFV1NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met)single nucleotide variantPathogenicrs121913659GRCh37Chr 11, 67379696: 67379696
5NDUFV1NM_007103.3(NDUFV1): c.175C> T (p.Arg59Ter)single nucleotide variantPathogenicrs768050261GRCh37Chr 11, 67376042: 67376042
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 pathogenic, Pathogenicrs201430951GRCh37Chr 14, 32068514: 32068514
14TMEM126BTMEM126B, GLY212VAL (SCV000280579)undetermined variantPathogenic
15TMEM126BTMEM126B, 397G-A (rs573006534)single nucleotide variantPathogenic
16TMEM126BTMEM126B, GLN70TERundetermined variantPathogenic
17TMEM126BTMEM126B, 1-BP DEL, 401A (SCV000280578)deletionPathogenic
18NDUFB3NDUFB3, TRP22ARGsingle nucleotide variantPathogenic
19NDUFAF1NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro)single nucleotide variantPathogenicrs387906956GRCh37Chr 15, 41687197: 41687197
20NDUFAF1NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg)single nucleotide variantPathogenicrs387906957GRCh37Chr 15, 41687058: 41687058
21NDUFAF1NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs387906958GRCh37Chr 15, 41687185: 41687185
22NDUFAF1NDUFAF1, GLY245ARGundetermined variantPathogenic
23FOXRED1NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs387907087GRCh37Chr 11, 126146371: 126146371
24NDUFS1NM_005006.6(NDUFS1): c.1783A> G (p.Thr595Ala)single nucleotide variantPathogenicrs387907199GRCh37Chr 2, 206992622: 206992622
25NDUFA1NM_004541.3(NDUFA1): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs1801316GRCh37Chr X, 119005968: 119005968
26NDUFS8NM_002496.3(NDUFS8): c.229C> T (p.Arg77Trp)single nucleotide variantPathogenicrs146766138GRCh37Chr 11, 67800607: 67800607
27NDUFS8NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp)single nucleotide variantPathogenicrs397514617GRCh37Chr 11, 67803823: 67803823
28NDUFS8NM_002496.3(NDUFS8): c.187G> C (p.Glu63Gln)single nucleotide variantPathogenicrs397514618GRCh37Chr 11, 67800467: 67800467
29NDUFB3NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter)single nucleotide variantPathogenicrs200800978GRCh37Chr 2, 201950249: 201950249
30NDUFS4NM_002495.3(NDUFS4): c.462delA (p.Lys154Asnfs)deletionPathogenicrs587776949GRCh38Chr 5, 53683155: 53683155
31NDUFAF3NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg)single nucleotide variantPathogenicrs121918134GRCh37Chr 3, 49059930: 49059930
32NDUFAF3NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro)single nucleotide variantPathogenicrs121918135GRCh37Chr 3, 49060336: 49060336
33NDUFAF3NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121918136GRCh37Chr 3, 49059579: 49059579
34FOXRED1NM_017547.3(FOXRED1): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs267606829GRCh37Chr 11, 126145284: 126145284
35NUBPLNM_025152.2(NUBPL): c.667_668insCCTTGTGCTG (p.Glu223Alafs)insertionPathogenicGRCh37Chr 14, 32295894: 32295895
36NUBPLNM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr)single nucleotide variantPathogenicrs397515440GRCh37Chr 14, 32068516: 32068516
37NUBPLNM_025152.2(NUBPL): c.693+1G> Asingle nucleotide variantPathogenicrs751631278GRCh37Chr 14, 32295921: 32295921
38NUBPLNM_025152.2(NUBPL): c.579A> C (p.Leu193Phe)single nucleotide variantPathogenicrs552722349GRCh37Chr 14, 32257051: 32257051
39NDUFS1NM_005006.6(NDUFS1): c.1855G> A (p.Asp619Asn)single nucleotide variantPathogenicrs397515447GRCh37Chr 2, 206992550: 206992550
40NDUFS1NM_005006.6(NDUFS1): c.1669C> T (p.Arg557Ter)single nucleotide variantPathogenicrs372691318GRCh37Chr 2, 206994851: 206994851
41NDUFS1NM_005006.6(NDUFS1): c.1222C> T (p.Arg408Cys)single nucleotide variantPathogenicrs149271416GRCh37Chr 2, 207006705: 207006705
42NDUFA11NDUFA11, IVS1DS, G-A, +5single nucleotide variantPathogenic
43NDUFAF5NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro)single nucleotide variantPathogenicrs118203929GRCh37Chr 20, 13782298: 13782298
44NDUFAF5NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe)single nucleotide variantPathogenicrs267606689GRCh37Chr 20, 13775585: 13775585
45FOXRED1NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser)single nucleotide variantPathogenicrs267606830GRCh37Chr 11, 126147412: 126147412
46NDUFS6NDUFS6, IVS2DS, T-A, +2single nucleotide variantPathogenic
47NDUFS6NG_013354.1: g.16053_20227del4175deletionPathogenicGRCh38Chr 5, 1812434: 1816608
48NDUFS6NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr)single nucleotide variantPathogenicrs267606913GRCh37Chr 5, 1815999: 1815999
49NDUFS3NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp)single nucleotide variantPathogenicrs104894270GRCh37Chr 11, 47603988: 47603988
50NDUFB9NDUFB9, LEU64PROsingle nucleotide variantPathogenic
51NDUFS2NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln)single nucleotide variantPathogenicrs121434427GRCh37Chr 1, 161179702: 161179702
52NDUFS2NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs121434428GRCh37Chr 1, 161179705: 161179705
53NDUFS2NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)single nucleotide variantPathogenicrs121434429GRCh37Chr 1, 161183463: 161183463
54NDUFS4NDUFS4, 5-BP DUPduplicationPathogenic
55NDUFS4NM_002495.3(NDUFS4): c.291delG (p.Trp97Terfs)deletionPathogenicrs121908985GRCh37Chr 5, 52942176: 52942176
56NDUFS4NM_002495.3(NDUFS4): c.44G> A (p.Trp15Ter)single nucleotide variantPathogenicrs104893899GRCh37Chr 5, 52856536: 52856536
57NDUFS8NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu)single nucleotide variantPathogenicrs28939679GRCh37Chr 11, 67800614: 67800614
58NDUFS8NM_002496.3(NDUFS8): c.305G> A (p.Arg102His)single nucleotide variantPathogenicrs121912638GRCh37Chr 11, 67800683: 67800683
59NDUFS8NM_002496.3(NDUFS8): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121912639GRCh37Chr 11, 67800632: 67800632
60NDUFS8NM_002496.3(NDUFS8): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs111033588GRCh37Chr 11, 67803760: 67803760
61NDUFAF4NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro)single nucleotide variantPathogenicrs63751061GRCh37Chr 6, 97344666: 97344666
62NC_000014.9deletionPathogenicGRCh38Chr 14, 31394019: 31655889
63NDUFV2NDUFV2, 4-BP DEL, NT5deletionPathogenic
64FOXRED1NM_017547.3(FOXRED1): c.612_615dupAGTG (p.Ala206Serfs)duplicationLikely pathogenic, Pathogenicrs398124308GRCh37Chr 11, 126144897: 126144900
65MT-TNm.5728T> Csingle nucleotide variantPathogenicrs199476132GRCh37Chr MT, 5728: 5728
66MT-ND4m.11777C> Asingle nucleotide variantPathogenicrs28384199GRCh37Chr MT, 11777: 11777
67MT-ND3m.10191T> Csingle nucleotide variantPathogenicrs267606890GRCh37Chr MT, 10191: 10191
68MT-ND3m.10158T> Csingle nucleotide variantPathogenicrs199476117GRCh37Chr MT, 10158: 10158
69MT-ND2m.5132_5133delAAdeletionPathogenicrs199476116GRCh37Chr MT, 5132: 5133
70MT-ND2m.4810G> Asingle nucleotide variantPathogenicrs267606888GRCh37Chr MT, 4810: 4810
71MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
72MT-ND1m.3902_3908invACCTTGCinversionPathogenicGRCh37Chr MT, 3902: 3908

Expression for genes affiliated with Mitochondrial Complex I Deficiency

About this section
Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency.

Pathways for genes affiliated with Mitochondrial Complex I Deficiency

About this section

GO Terms for genes affiliated with Mitochondrial Complex I Deficiency

About this section

Cellular components related to Mitochondrial Complex I Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial membraneGO:003196610.5MT-ND1, NDUFA1, NDUFAF4, NDUFS3
2mitochondrial matrixGO:000575910.3NDUFS1, NDUFS2, NDUFS3, NUBPL
3myelin sheathGO:004320910.0NDUFS1, NDUFS3, NDUFV2
4mitochondrial respiratory chain complex IGO:00057479.2FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1
5mitochondrionGO:00057398.4FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
6mitochondrial inner membraneGO:00057438.2FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1

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

idNameGO IDScoreTop Affiliating Genes
1respiratory electron transport chainGO:002290410.6NDUFAF2, NDUFS6
2cellular respirationGO:004533310.2NDUFAF2, NDUFS1, NDUFS4
3reactive oxygen species metabolic processGO:007259310.0NDUFAF2, NDUFS1, NDUFS3, NDUFS4
4mitochondrion morphogenesisGO:00705849.9NDUFS6, NUBPL
5mitochondrial electron transport, NADH to ubiquinoneGO:00061208.5MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1, NDUFB3
6mitochondrial respiratory chain complex I assemblyGO:00329818.2FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase activityGO:000395410.6NDUFS2, NDUFS3, NDUFV1
22 iron, 2 sulfur cluster bindingGO:005153710.5NDUFS1, NDUFV2
3NAD bindingGO:005128710.3NDUFS2, NDUFV1
44 iron, 4 sulfur cluster bindingGO:005153910.1NDUFS1, NDUFS2, NDUFV1, NUBPL
5electron carrier activityGO:00090559.4NDUFAF2, NDUFS1, NDUFS2, NDUFS3, NDUFS6, NDUFV2
6NADH dehydrogenase (ubiquinone) activityGO:00081379.1MT-ND1, MT-ND3, NDUFA1, NDUFAF2, NDUFB3, NDUFB9

Sources for Mitochondrial Complex I Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet