MCID: MTC007
MIFTS: 56

Mitochondrial Complex I Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency

MalaCards integrated aliases for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 53 12 49 24 71 28 51 41 14 69
Nadh:q(1) Oxidoreductase Deficiency 53 49 24 71 69
Nadh-Coenzyme Q Reductase Deficiency 53 24 71
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 53 49
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 12 49
Complex 1 Mitochondrial Respiratory Chain Deficiency 49 71
Isolated Nadh-Coenzyme Q Reductase Deficiency 12 49
Isolated Nadh-Ubiquinone Reductase Deficiency 12 49
Isolated Nadh-Coq Reductase Deficiency 12 49
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 71
Complex I, Mitochondrial Respiratory Chain, Deficiency of 13
Complex I Mitochondrial Respiratory Chain Deficiency 71
Nadh:ubiquinone Oxidoreductase Deficiency 71
Nadh Coenzyme Q Reductase Deficiency 49
Mitochondrial Complex 1 Deficiency 53
Isolated Complex I Deficiency 49
Mt-C1d 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
mitochondrial
x-linked dominant

Miscellaneous:
highly variable phenotype
highly variable age at onset
can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes


HPO:

31
mitochondrial complex i deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance mitochondrial inheritance x-linked dominant inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency

NIH Rare Diseases : 49 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 nadh:q(1) oxidoreductase deficiency, is related to leigh syndrome and mitochondrial complex i deficiency due to acad9 deficiency, and has symptoms including ataxia, seizures and vomiting. An important gene associated with Mitochondrial Complex I Deficiency is NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (256000), Leber hereditary optic neuropathy (535000), and some forms of Parkinson disease (see 556500) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998). (252010)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.

Disease Ontology : 12 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.

Related Diseases for Mitochondrial Complex I Deficiency

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 31.4 FOXRED1 NDUFA1 NDUFA11 NDUFAF2 NDUFAF3 NDUFAF4
2 mitochondrial complex i deficiency due to acad9 deficiency 12.5
3 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 12.2
4 nephronophthisis-like nephropathy 1 11.0
5 comedo carcinoma 10.3 NDUFS3 NDUFS4
6 mitochondrial disorders 10.0 NDUFA1 NDUFS4 TMEM126B
7 hepatitis 9.9
8 retinitis 9.9
9 lactic acidosis 9.9
10 encephalomyopathy 9.9
11 leigh syndrome with leukodystrophy 9.8 FOXRED1 NDUFAF2 NDUFAF5 NDUFS1 NDUFS2 NDUFS3
12 amyotrophic lateral sclerosis 1 9.7
13 neurofibromatosis, type iv, of riccardi 9.7
14 optic nerve hypoplasia, bilateral 9.7
15 mitochondrial dna depletion syndrome 9 9.7
16 hypophosphatemic rickets, x-linked recessive 9.7
17 charcot-marie-tooth disease, axonal, type 2k 9.7
18 arthrogryposis multiplex congenita, neurogenic, with myelin defect 9.7
19 charcot-marie-tooth disease 9.7
20 temporal lobe epilepsy 9.7
21 leukodystrophy 9.7
22 rickets 9.7
23 fanconi syndrome 9.7
24 tooth disease 9.7
25 allergic hypersensitivity disease 9.7
26 dementia 9.7
27 epilepsy 9.7
28 lateral sclerosis 9.7
29 encephalopathy 9.7
30 mitochondrial metabolism disease 9.6 FOXRED1 NDUFA1 NDUFAF1 NDUFAF2 NDUFAF4 NDUFAF5
31 leber hereditary optic neuropathy 9.5 FOXRED1 NDUFA1 NDUFA11 NDUFAF2 NDUFAF3 NDUFAF4

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

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
ataxia
seizures
lethargy
spasticity
hyperreflexia
more
MuscleSoftTissue:
muscle weakness
exercise intolerance
hypotonia
muscle atrophy
muscle biopsy shows abnormal mitochondria

GrowthOther:
failure to thrive
growth retardation

CardiovascularHeart:
hypertrophic cardiomyopathy

AbdomenLiver:
hepatic failure

HeadAndNeckEars:
sensorineural deafness
auditory neuropathy

AbdomenGastrointestinal:
vomiting
poor feeding

HeadAndNeckEyes:
ptosis
nystagmus
blindness
strabismus
optic neuropathy
more
Respiratory:
respiratory insufficiency
respiratory failure

MetabolicFeatures:
hypoglycemia
lactic acidosis

LaboratoryAbnormalities:
increased csf lactate
lactic acidemia
decreased activity of mitochondrial respiratory chain complex i

HeadAndNeckHead:
macrocephaly, progressive


Clinical features from OMIM:

252010

Human phenotypes related to Mitochondrial Complex I Deficiency:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 seizures 31 HP:0001250
3 vomiting 31 HP:0002013
4 muscle weakness 31 HP:0001324
5 lethargy 31 HP:0001254
6 ptosis 31 HP:0000508
7 nystagmus 31 HP:0000639
8 spasticity 31 HP:0001257
9 hyperreflexia 31 HP:0001347
10 failure to thrive 31 HP:0001508
11 developmental regression 31 HP:0002376
12 global developmental delay 31 HP:0001263
13 sensorineural hearing impairment 31 HP:0000407
14 blindness 31 HP:0000618
15 feeding difficulties in infancy 31 HP:0008872
16 hypertrophic cardiomyopathy 31 HP:0001639
17 hypoglycemia 31 HP:0001943
18 skeletal muscle atrophy 31 HP:0003202
19 strabismus 31 HP:0000486
20 growth delay 31 HP:0001510
21 babinski sign 31 HP:0003487
22 lactic acidosis 31 HP:0003128
23 respiratory failure 31 HP:0002878
24 coma 31 HP:0001259
25 hyporeflexia 31 HP:0001265
26 hepatic failure 31 HP:0001399
27 cerebellar atrophy 31 HP:0001272
28 cerebral edema 31 HP:0002181
29 exercise intolerance 31 HP:0003546
30 leukodystrophy 31 HP:0002415
31 optic disc pallor 31 HP:0000543
32 generalized hypotonia 31 HP:0001290
33 progressive macrocephaly 31 HP:0004481
34 increased csf lactate 31 HP:0002490
35 acute necrotizing encephalopathy 31 HP:0006965
36 abnormal mitochondria in muscle tissue 31 hallmark (90%) HP:0008316

UMLS symptoms related to Mitochondrial Complex I Deficiency:


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

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

25 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.21 NDUFA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.21 NDUFV2 NDUFA11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.21 NDUFS1 NDUFV1 NDUFV2 NDUFA1 NDUFB9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.21 NDUFS1 NDUFB9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.21 NDUFA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.21 NDUFB9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.21 NDUFA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.21 NDUFS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.21 NDUFA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.21 NDUFS1 NDUFV2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.21 NDUFA11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.21 NDUFS1 TMEM126B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.21 NDUFS1 NDUFV1 NDUFA11 TMEM126B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.21 NDUFA11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.21 NDUFV2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.21 NDUFV2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.21 NDUFB9
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.21 NDUFS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.21 NDUFB9
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.21 NDUFS1 NDUFV1 NDUFV2 NDUFA1 NDUFA11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.21 NDUFV1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.8 NDUFA11 NDUFS1 NDUFV1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.8 NDUFS1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.8 NDUFV1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.8 NDUFA11 NDUFS1 NDUFV1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.8 NDUFA11
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.8 NDUFS1 NDUFV1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.8 NDUFS1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.8 NDUFV1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.8 NDUFA11
31 Decreased shRNA abundance GR00297-A 9.76 NDUFA1 NDUFA11 NDUFB9 NDUFS1 NDUFS2 NDUFS3

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency

Cochrane evidence based reviews: mitochondrial complex i deficiency

Genetic Tests for Mitochondrial Complex I Deficiency

Genetic tests related to Mitochondrial Complex I Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency 28 FOXRED1 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFV1 NDUFV2 NUBPL TIMMDC1 TMEM126B

Anatomical Context for Mitochondrial Complex I Deficiency

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

38
Liver, Skeletal Muscle, Brain, Eye, Heart, Temporal Lobe

Publications for Mitochondrial Complex I Deficiency

Articles related to Mitochondrial Complex I Deficiency:

(show top 50) (show all 57)
# Title Authors Year
1
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. ( 29429571 )
2018
2
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant. ( 29395179 )
2018
3
Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 28919908 )
2017
4
Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 29285026 )
2017
5
Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice. ( 28533980 )
2017
6
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. ( 29142257 )
2017
7
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. ( 27502960 )
2016
8
Dementia in Parkinson's disease is associated with enhanced mitochondrial complex I deficiency. ( 26853899 )
2016
9
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. ( 27126960 )
2016
10
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. ( 26024641 )
2015
11
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. ( 26134164 )
2015
12
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. ( 25652399 )
2015
13
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. ( 25418441 )
2015
14
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. ( 24522811 )
2014
15
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. ( 24895128 )
2014
16
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. ( 24711935 )
2014
17
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. ( 24476218 )
2014
18
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. ( 24963768 )
2014
19
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. ( 23836946 )
2013
20
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. ( 23266820 )
2013
21
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. ( 23378164 )
2013
22
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. ( 24386581 )
2013
23
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. ( 23931755 )
2013
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
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. ( 22499348 )
2012
27
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. ( 22450425 )
2012
28
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. ( 21757032 )
2012
29
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. ( 22099533 )
2012
30
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. ( 20346082 )
2012
31
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. ( 22036961 )
2012
32
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. ( 20107904 )
2011
33
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. ( 22188452 )
2011
34
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. ( 21458341 )
2011
35
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. ( 19336460 )
2009
36
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). ( 19089472 )
2009
37
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. ( 18306244 )
2008
38
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. ( 18396137 )
2008
39
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. ( 18791645 )
2008
40
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. ( 17985265 )
2007
41
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. ( 15824269 )
2005
42
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. ( 15372108 )
2004
43
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. ( 12690563 )
2003
44
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. ( 11349233 )
2001
45
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. ( 11743516 )
2001
46
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. ( 11079540 )
2000
47
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. ( 10669207 )
2000
48
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. ( 10328281 )
1999
49
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. ( 10393702 )
1999
50
Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. ( 9603924 )
1998

Variations for Mitochondrial Complex I Deficiency

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

71 (show all 38)
# Symbol AA change Variation ID SNP ID
1 FOXRED1 p.Asn430Ser VAR_064571 rs267606830
2 FOXRED1 p.Arg352Trp VAR_073273 rs387907087
3 MT-ND1 p.Glu214Lys VAR_073352 rs199476123
4 MT-ND3 p.Ser45Pro VAR_035091 rs267606890
5 MT-ND3 p.Ala47Thr VAR_035092 rs267606891
6 MT-ND3 p.Ser34Pro VAR_064564 rs199476117
7 MT-ND5 p.Phe124Leu VAR_035424 rs267606893
8 MT-ND5 p.Ala236Thr VAR_035427 rs267606898
9 MT-ND5 p.Met237Leu VAR_035428 rs267606895
10 MT-ND5 p.Asp393Asn VAR_035430 rs267606897
11 MT-ND5 p.Val253Ala VAR_064566
12 MT-ND6 p.Ala72Val VAR_004764 rs199476105
13 MT-ND6 p.Met63Val VAR_064568 rs199476109
14 NDUFA1 p.Gly8Arg VAR_035099 rs104894884
15 NDUFA1 p.Arg37Ser VAR_035100 rs104894885
16 NDUFAF3 p.Gly77Arg VAR_058491 rs121918134
17 NDUFAF3 p.Arg122Pro VAR_058492 rs121918135
18 NDUFAF4 p.Leu65Pro VAR_044329 rs63751061
19 NDUFAF5 p.Leu229Pro VAR_054119 rs118203929
20 NDUFAF6 p.Gln99Arg VAR_047770 rs137853184
21 NDUFAF6 p.Asp69Val VAR_076272 rs1057519085Mitochondrial
22 NDUFAF6 p.Ser76Pro VAR_076273 rs1057519084Mitochondrial
23 NDUFAF6 p.Ile124Thr VAR_076274 rs201732170
24 NDUFAF6 p.His269Asp VAR_076275 rs768273248
25 NDUFAF6 p.Arg274Gly VAR_076276 rs1057519086Mitochondrial
26 NDUFB11 p.Glu121Lys VAR_076277 rs1057519073Mitochondrial
27 NDUFB3 p.Trp22Arg VAR_078939 rs142609245
28 NDUFS1 p.Arg241Trp VAR_019532 rs199422225
29 NDUFS1 p.Asp252Gly VAR_019533 rs199422224
30 NDUFS2 p.Arg228Gln VAR_019535 rs121434427
31 NDUFS2 p.Pro229Gln VAR_019536 rs121434428
32 NDUFS2 p.Ser413Pro VAR_019537 rs121434429
33 NDUFS6 p.Cys115Tyr VAR_078947 rs267606913
34 NDUFS7 p.Val122Met VAR_008848 rs104894705
35 NDUFV1 p.Ala341Val VAR_008846 rs121913660
36 NDUFV1 p.Glu214Lys VAR_019534 rs121913661
37 NUBPL p.Asp105Tyr VAR_069767 rs397515440
38 NUBPL p.Leu193Phe VAR_069768 rs552722349

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency:

6 (show top 50) (show all 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXRED1 NM_017547.3(FOXRED1): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs267606829 GRCh37 Chromosome 11, 126145284: 126145284
2 FOXRED1 NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser) single nucleotide variant Pathogenic rs267606830 GRCh37 Chromosome 11, 126147412: 126147412
3 NUBPL NC_000014.9 deletion Pathogenic NCBI36 Chromosome 14, 30932976: 31194846
4 NDUFV2 NDUFV2, 4-BP DEL, NT5 deletion Pathogenic
5 MT-TN m.5728T> C single nucleotide variant Pathogenic rs199476132 GRCh37 Chromosome MT, 5728: 5728
6 MT-ND2 m.4810G> A single nucleotide variant Pathogenic rs267606888 GRCh37 Chromosome MT, 4810: 4810
7 MT-ND4 m.11777C> A single nucleotide variant Pathogenic rs28384199 GRCh37 Chromosome MT, 11777: 11777
8 MT-ND3 m.10191T> C single nucleotide variant Pathogenic rs267606890 GRCh37 Chromosome MT, 10191: 10191
9 MT-ND3 m.10158T> C single nucleotide variant Pathogenic rs199476117 GRCh37 Chromosome MT, 10158: 10158
10 MT-ND2 m.5132_5133delAA deletion Pathogenic rs199476116 GRCh37 Chromosome MT, 5132: 5133
11 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh37 Chromosome MT, 3460: 3460
12 MT-ND1 m.3902_3908invACCTTGC inversion Pathogenic GRCh37 Chromosome MT, 3902: 3908
13 NDUFA1 NM_004541.3(NDUFA1): c.22G> C (p.Gly8Arg) single nucleotide variant Pathogenic rs104894884 GRCh37 Chromosome X, 119005896: 119005896
14 NDUFA1 NM_004541.3(NDUFA1): c.111G> C (p.Arg37Ser) single nucleotide variant Pathogenic rs104894885 GRCh37 Chromosome X, 119007275: 119007275
15 NDUFV1 NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913659 GRCh37 Chromosome 11, 67379696: 67379696
16 NDUFV1 NM_007103.3(NDUFV1): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs768050261 GRCh38 Chromosome 11, 67608571: 67608571
17 NDUFV1 NM_007103.3(NDUFV1): c.640G> A (p.Glu214Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913661 GRCh37 Chromosome 11, 67377981: 67377981
18 NDUFV1 NDUFV1, IVS8DS, A-C, +4 single nucleotide variant Pathogenic
19 NDUFS1 NM_005006.6(NDUFS1): c.666_668delCAT (p.Ile223del) deletion Pathogenic rs397515383 GRCh37 Chromosome 2, 207011696: 207011698
20 NDUFS1 NM_005006.6(NDUFS1): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs199422224 GRCh37 Chromosome 2, 207009733: 207009733
21 NDUFS1 NM_005006.6(NDUFS1): c.721C> T (p.Arg241Trp) single nucleotide variant Pathogenic rs199422225 GRCh37 Chromosome 2, 207011643: 207011643
22 NDUFS1 NM_005006.6(NDUFS1): c.691C> G (p.Leu231Val) single nucleotide variant Pathogenic rs199422226 GRCh37 Chromosome 2, 207011673: 207011673
23 NDUFB3 NDUFB3, TRP22ARG single nucleotide variant Pathogenic
24 NDUFAF1 NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro) single nucleotide variant Pathogenic rs387906956 GRCh37 Chromosome 15, 41687197: 41687197
25 NDUFAF1 NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg) single nucleotide variant Pathogenic rs387906957 GRCh37 Chromosome 15, 41687058: 41687058
26 NDUFAF1 NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs387906958 GRCh37 Chromosome 15, 41687185: 41687185
27 NDUFAF1 NDUFAF1, GLY245ARG undetermined variant Pathogenic
28 FOXRED1 NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs387907087 GRCh37 Chromosome 11, 126146371: 126146371
29 NDUFS1 NM_005006.6(NDUFS1): c.1783A> G (p.Thr595Ala) single nucleotide variant Pathogenic rs387907199 GRCh37 Chromosome 2, 206992622: 206992622
30 NDUFS8 NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp) single nucleotide variant Pathogenic rs397514617 GRCh37 Chromosome 11, 67803823: 67803823
31 NDUFS8 NM_002496.3(NDUFS8): c.187G> C (p.Glu63Gln) single nucleotide variant Pathogenic rs397514618 GRCh37 Chromosome 11, 67800467: 67800467
32 NDUFB3 NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200800978 GRCh37 Chromosome 2, 201950249: 201950249
33 NDUFS4 NM_002495.3(NDUFS4): c.462delA (p.Lys154Asnfs) deletion Pathogenic rs587776949 GRCh38 Chromosome 5, 53683155: 53683155
34 NUBPL NM_025152.2(NUBPL): c.667_668insCCTTGTGCTG (p.Glu223Alafs) insertion Pathogenic rs879255565 GRCh37 Chromosome 14, 32295894: 32295895
35 NUBPL NM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr) single nucleotide variant Pathogenic rs397515440 GRCh37 Chromosome 14, 32068516: 32068516
36 NUBPL NM_025152.2(NUBPL): c.693+1G> A single nucleotide variant Pathogenic rs751631278 GRCh37 Chromosome 14, 32295921: 32295921
37 NUBPL NM_025152.2(NUBPL): c.579A> C (p.Leu193Phe) single nucleotide variant Pathogenic rs552722349 GRCh37 Chromosome 14, 32257051: 32257051
38 NDUFS1 NM_005006.6(NDUFS1): c.1855G> A (p.Asp619Asn) single nucleotide variant Pathogenic rs397515447 GRCh37 Chromosome 2, 206992550: 206992550
39 NDUFS1 NM_005006.6(NDUFS1): c.1669C> T (p.Arg557Ter) single nucleotide variant Pathogenic rs372691318 GRCh37 Chromosome 2, 206994851: 206994851
40 NDUFS1 NM_005006.6(NDUFS1): c.1222C> T (p.Arg408Cys) single nucleotide variant Pathogenic/Likely pathogenic rs149271416 GRCh37 Chromosome 2, 207006705: 207006705
41 NDUFB9 NM_005005.2(NDUFB9): c.191T> C (p.Leu64Pro) single nucleotide variant Pathogenic rs776388520 GRCh37 Chromosome 8, 125555417: 125555417
42 FOXRED1 NM_017547.3(FOXRED1): c.612_615dupAGTG (p.Ala206Serfs) duplication Pathogenic/Likely pathogenic rs398124308 GRCh37 Chromosome 11, 126144897: 126144900
43 NDUFA13 NM_015965.6(NDUFA13): c.170G> A (p.Arg57His) single nucleotide variant Pathogenic rs752513525 GRCh38 Chromosome 19, 19526257: 19526257
44 NDUFAF3 NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg) single nucleotide variant Pathogenic rs121918134 GRCh37 Chromosome 3, 49059930: 49059930
45 NDUFAF3 NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs121918135 GRCh37 Chromosome 3, 49060336: 49060336
46 NDUFAF3 NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918136 GRCh37 Chromosome 3, 49059579: 49059579
47 NDUFA11 NDUFA11, IVS1DS, G-A, +5 single nucleotide variant Pathogenic
48 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh37 Chromosome 20, 13782298: 13782298
49 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh37 Chromosome 20, 13775585: 13775585
50 NDUFAF4 NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs63751061 GRCh37 Chromosome 6, 97344666: 97344666

Expression for Mitochondrial Complex I Deficiency

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

Pathways for Mitochondrial Complex I Deficiency

GO Terms for Mitochondrial Complex I Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I GO:0005747 9.8 FOXRED1 NDUFA1 NDUFA11 NDUFAF1 NDUFB11 NDUFB3
2 mitochondrial matrix GO:0005759 9.73 NDUFS1 NDUFS2 NDUFS3 NUBPL
3 mitochondrial membrane GO:0031966 9.71 NDUFA1 NDUFAF4 NDUFS3 TMEM126B
4 myelin sheath GO:0043209 9.63 NDUFS1 NDUFS3 NDUFV2
5 respiratory chain GO:0070469 9.44 FOXRED1 NDUFA1 NDUFA11 NDUFB11 NDUFB3 NDUFB9
6 plasma membrane respiratory chain complex I GO:0045272 9.37 NDUFS1 NDUFV2
7 membrane GO:0016020 10.28 FOXRED1 NDUFA1 NDUFA11 NDUFAF2 NDUFAF3 NDUFAF4
8 mitochondrial inner membrane GO:0005743 10.23 FOXRED1 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3
9 mitochondrion GO:0005739 10.11 FOXRED1 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 FOXRED1 NDUFA1 NDUFA11 NDUFAF5 NDUFB11 NDUFB3
2 reactive oxygen species metabolic process GO:0072593 9.62 NDUFAF2 NDUFS1 NDUFS3 NDUFS4
3 cellular respiration GO:0045333 9.56 NDUFAF2 NDUFS1 NDUFS3 NDUFS4
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.44 NDUFA1 NDUFA11 NDUFAF1 NDUFB11 NDUFB3 NDUFB9
5 respiratory electron transport chain GO:0022904 9.43 NDUFAF2 NDUFS6
6 mitochondrion morphogenesis GO:0070584 9.4 NDUFS6 NUBPL
7 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.37 NDUFS2 NDUFV1
8 mitochondrial respiratory chain complex I assembly GO:0032981 10.16 FOXRED1 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 FOXRED1 NDUFAF5 NDUFS1 NDUFS2 NDUFS3 NDUFV1
2 iron-sulfur cluster binding GO:0051536 9.65 NDUFS1 NDUFS2 NDUFV1 NDUFV2 NUBPL
3 electron transfer activity GO:0009055 9.63 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFS6 NDUFV2
4 4 iron, 4 sulfur cluster binding GO:0051539 9.62 NDUFS1 NDUFS2 NDUFV1 NUBPL
5 NAD binding GO:0051287 9.46 NDUFS2 NDUFV1
6 2 iron, 2 sulfur cluster binding GO:0051537 9.43 NDUFS1 NDUFV2
7 NADH dehydrogenase activity GO:0003954 9.4 NDUFS2 NDUFS3
8 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.36 NDUFA1 NDUFAF2 NDUFB3 NDUFB9 NDUFS1 NDUFS2
9 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.35 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFV1

Sources for Mitochondrial Complex I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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