MT-C1D
MCID: MTC007
MIFTS: 57

Mitochondrial Complex I Deficiency (MT-C1D)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency

MalaCards integrated aliases for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 57 12 53 25 75 37 29 55 6 44 15 73
Nadh:q(1) Oxidoreductase Deficiency 57 53 25 75 73
Nadh-Coenzyme Q Reductase Deficiency 57 25 75
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 57 53
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 12 53
Complex 1 Mitochondrial Respiratory Chain Deficiency 53 75
Isolated Nadh-Coenzyme Q Reductase Deficiency 12 53
Isolated Nadh-Ubiquinone Reductase Deficiency 12 53
Isolated Nadh-Coq Reductase Deficiency 12 53
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 75
Complex I, Mitochondrial Respiratory Chain, Deficiency of 13
Complex I Mitochondrial Respiratory Chain Deficiency 75
Nadh:ubiquinone Oxidoreductase Deficiency 75
Nadh Coenzyme Q Reductase Deficiency 53
Deficiency, Mitochondrial Complex I 40
Mitochondrial Complex 1 Deficiency 57
Isolated Complex I Deficiency 53
Mt-C1d 75

Characteristics:

OMIM:

57
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:

32
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 : 53 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).

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 seizures, ataxia and muscle weakness. An important gene associated with Mitochondrial Complex I Deficiency is NDUFB11 (NADH:Ubiquinone Oxidoreductase Subunit B11), and among its related pathways/superpathways are Oxidative phosphorylation and Metabolism. Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are ptosis and nystagmus

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.

Genetics Home Reference : 25 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.

OMIM : 57 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 : 75 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

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:

57
Head And Neck Eyes:
ptosis
nystagmus
blindness
strabismus
optic neuropathy
more
Muscle Soft Tissue:
muscle weakness
exercise intolerance
hypotonia
muscle atrophy
muscle biopsy shows abnormal mitochondria

Respiratory:
respiratory insufficiency
respiratory failure

Cardiovascular Heart:
hypertrophic cardiomyopathy

Abdomen Liver:
hepatic failure

Head And Neck Ears:
auditory neuropathy
sensorineural deafness

Neurologic Central Nervous System:
seizures
ataxia
spasticity
hyperreflexia
dyskinesia
more
Growth Other:
failure to thrive
growth retardation

Abdomen Gastrointestinal:
vomiting
poor feeding

Metabolic Features:
hypoglycemia
lactic acidosis

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

Head And Neck Head:
macrocephaly, progressive


Clinical features from OMIM:

252010

Human phenotypes related to Mitochondrial Complex I Deficiency:

32 (show all 42)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 nystagmus 32 HP:0000639
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 muscular hypotonia 32 HP:0001252
6 spasticity 32 HP:0001257
7 muscle weakness 32 HP:0001324
8 hyperreflexia 32 HP:0001347
9 failure to thrive 32 HP:0001508
10 respiratory insufficiency 32 HP:0002093
11 developmental regression 32 HP:0002376
12 global developmental delay 32 HP:0001263
13 dyskinesia 32 HP:0100660
14 sensorineural hearing impairment 32 HP:0000407
15 blindness 32 HP:0000618
16 feeding difficulties in infancy 32 HP:0008872
17 vomiting 32 HP:0002013
18 hypertrophic cardiomyopathy 32 HP:0001639
19 hypoglycemia 32 HP:0001943
20 skeletal muscle atrophy 32 HP:0003202
21 strabismus 32 HP:0000486
22 growth delay 32 HP:0001510
23 babinski sign 32 HP:0003487
24 lactic acidosis 32 HP:0003128
25 respiratory failure 32 HP:0002878
26 coma 32 HP:0001259
27 optic neuropathy 32 HP:0001138
28 hyporeflexia 32 HP:0001265
29 hepatic failure 32 HP:0001399
30 lethargy 32 HP:0001254
31 optic disc pallor 32 HP:0000543
32 abnormal mitochondria in muscle tissue 32 hallmark (90%) HP:0008316
33 cerebellar atrophy 32 HP:0001272
34 cerebral edema 32 HP:0002181
35 generalized hypotonia 32 HP:0001290
36 exercise intolerance 32 HP:0003546
37 leukodystrophy 32 HP:0002415
38 increased csf lactate 32 HP:0002490
39 decreased activity of mitochondrial respiratory chain 32 HP:0008972
40 progressive macrocephaly 32 HP:0004481
41 leukoencephalopathy 32 HP:0002352
42 acute necrotizing encephalopathy 32 HP:0006965

UMLS symptoms related to Mitochondrial Complex I Deficiency:


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

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

26 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.49 NDUFA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.49 NDUFA11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.49 NDUFA1 NDUFB9 NDUFS1 NDUFV1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.49 NDUFB9 NDUFS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.49 NDUFA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.49 NDUFB9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.49 NDUFA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.49 NDUFS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.49 NDUFA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.49 NDUFS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.49 NDUFA11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.49 NDUFS1 TMEM126B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.49 NDUFS1 NDUFV1 NDUFA11 TMEM126B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.49 NDUFA11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.49 NDUFV1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.49 NDUFB9
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.49 NDUFS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.49 NDUFB9
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.49 NDUFA1 NDUFS1 NDUFV1 NDUFA11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.49 NDUFV1
21 Decreased viability GR00240-S-1 10.23 NDUFS3
22 Decreased viability GR00381-A-1 10.23 NDUFAF1 NDUFAF5 NDUFB9
23 Decreased viability GR00402-S-2 10.23 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFAF1 NDUFAF2
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.07 NDUFA11 NDUFS1 NDUFV1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.07 NDUFS1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.07 NDUFA11 NDUFS1 NDUFV1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.07 NDUFA11
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.07 NDUFS1 NDUFV1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.07 NDUFS1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.07 NDUFV1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.07 NDUFA11
32 Decreased shRNA abundance GR00297-A 9.92 NDUFA1 NDUFA11 NDUFA13 NDUFB9 NDUFS1 NDUFS2
33 no effect GR00402-S-1 9.62 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFAF1 NDUFAF2

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 29 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFB11 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:

41
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 59)
# Title Authors Year
1
Mitochondrial Complex I Deficiency in Schizophrenia and Bipolar Disorder and Medication Influence. ( 29594135 )
2018
2
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. ( 29429571 )
2018
3
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant. ( 29395179 )
2018
4
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. ( 29976978 )
2018
5
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. ( 30245030 )
2018
6
Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 29285026 )
2017
7
Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 28919908 )
2017
8
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. ( 29142257 )
2017
9
Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice. ( 28533980 )
2017
10
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. ( 27502960 )
2016
11
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. ( 27126960 )
2016
12
Dementia in Parkinson's disease is associated with enhanced mitochondrial complex I deficiency. ( 26853899 )
2016
13
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. ( 25652399 )
2015
14
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. ( 26024641 )
2015
15
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. ( 25418441 )
2015
16
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. ( 26134164 )
2015
17
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. ( 24522811 )
2014
18
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. ( 24963768 )
2014
19
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. ( 24476218 )
2014
20
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. ( 24895128 )
2014
21
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. ( 24711935 )
2014
22
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. ( 23266820 )
2013
23
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. ( 23836946 )
2013
24
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. ( 23931755 )
2013
25
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome. ( 24386581 )
2013
26
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. ( 23378164 )
2013
27
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. ( 20346082 )
2012
28
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. ( 21757032 )
2012
29
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. ( 22142868 )
2012
30
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. ( 22036961 )
2012
31
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. ( 22474353 )
2012
32
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. ( 22099533 )
2012
33
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. ( 22450425 )
2012
34
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. ( 22499348 )
2012
35
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. ( 20107904 )
2011
36
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. ( 22188452 )
2011
37
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. ( 21458341 )
2011
38
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). ( 19089472 )
2009
39
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. ( 19336460 )
2009
40
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. ( 18396137 )
2008
41
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. ( 18306244 )
2008
42
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. ( 18791645 )
2008
43
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. ( 17985265 )
2007
44
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. ( 15824269 )
2005
45
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. ( 15372108 )
2004
46
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. ( 12690563 )
2003
47
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. ( 11743516 )
2001
48
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. ( 11079540 )
2000
49
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. ( 10669207 )
2000
50
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. ( 10393702 )
1999

Variations for Mitochondrial Complex I Deficiency

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

75 (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 rs105751908
22 NDUFAF6 p.Ser76Pro VAR_076273 rs105751908
23 NDUFAF6 p.Ile124Thr VAR_076274 rs201732170
24 NDUFAF6 p.His269Asp VAR_076275 rs768273248
25 NDUFAF6 p.Arg274Gly VAR_076276 rs105751908
26 NDUFB11 p.Glu121Lys VAR_076277 rs105751907
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 1174)
# 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.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs267606829 GRCh38 Chromosome 11, 126275389: 126275389
3 FOXRED1 NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser) single nucleotide variant Pathogenic rs267606830 GRCh37 Chromosome 11, 126147412: 126147412
4 FOXRED1 NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser) single nucleotide variant Pathogenic rs267606830 GRCh38 Chromosome 11, 126277517: 126277517
5 NUBPL NM_025152.2(NUBPL): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs200401432 GRCh37 Chromosome 14, 32031331: 32031331
6 NUBPL NM_025152.2(NUBPL): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs200401432 GRCh38 Chromosome 14, 31562125: 31562125
7 NUBPL NC_000014.9 deletion Pathogenic NCBI36 Chromosome 14, 30932976: 31194846
8 NUBPL NC_000014.9 deletion Pathogenic GRCh37 Chromosome 14, 31863225: 32125095
9 NUBPL NC_000014.9 deletion Pathogenic GRCh38 Chromosome 14, 31394019: 31655889
10 NDUFAF3 NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg) single nucleotide variant Pathogenic rs121918134 GRCh37 Chromosome 3, 49059930: 49059930
11 NDUFAF3 NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg) single nucleotide variant Pathogenic rs121918134 GRCh38 Chromosome 3, 49022497: 49022497
12 NDUFAF3 NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs121918135 GRCh37 Chromosome 3, 49060336: 49060336
13 NDUFAF3 NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs121918135 GRCh38 Chromosome 3, 49022903: 49022903
14 NDUFAF3 NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918136 GRCh37 Chromosome 3, 49059579: 49059579
15 NDUFAF3 NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918136 GRCh38 Chromosome 3, 49022146: 49022146
16 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh37 Chromosome 20, 13782298: 13782298
17 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh38 Chromosome 20, 13801652: 13801652
18 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh37 Chromosome 20, 13775585: 13775585
19 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh38 Chromosome 20, 13794939: 13794939
20 NDUFAF4 NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs63751061 GRCh37 Chromosome 6, 97344666: 97344666
21 NDUFAF4 NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs63751061 GRCh38 Chromosome 6, 96896790: 96896790
22 NDUFAF2 NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs137852863 GRCh37 Chromosome 5, 60368963: 60368963
23 NDUFAF2 NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs137852863 GRCh38 Chromosome 5, 61073136: 61073136
24 NDUFAF2 NM_174889.4(NDUFAF2): c.103delA (p.Ile35Serfs) deletion Pathogenic GRCh37 Chromosome 5, 60241185: 60241185
25 NDUFAF2 NM_174889.4(NDUFAF2): c.103delA (p.Ile35Serfs) deletion Pathogenic GRCh38 Chromosome 5, 60945358: 60945358
26 NDUFS6 NM_004553.4(NDUFS6): c.186+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 1802490: 1802490
27 NDUFS6 NM_004553.4(NDUFS6): c.186+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 1802376: 1802376
28 NDUFS6 NG_013354.1: g.16053_20227del4175 deletion Pathogenic GRCh38 Chromosome 5, 1812434: 1816608
29 NDUFS6 NG_013354.1: g.16053_20227del4175 deletion Pathogenic GRCh37 Chromosome 5, 1812548: 1816722
30 NDUFS6 NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr) single nucleotide variant Pathogenic rs267606913 GRCh37 Chromosome 5, 1815999: 1815999
31 NDUFS6 NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr) single nucleotide variant Pathogenic rs267606913 GRCh38 Chromosome 5, 1815885: 1815885
32 NDUFS3 NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp) single nucleotide variant Pathogenic rs104894270 GRCh37 Chromosome 11, 47603988: 47603988
33 NDUFS3 NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp) single nucleotide variant Pathogenic rs104894270 GRCh38 Chromosome 11, 47582436: 47582436
34 NDUFS2 NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln) single nucleotide variant Pathogenic rs121434427 GRCh37 Chromosome 1, 161179702: 161179702
35 NDUFS2 NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln) single nucleotide variant Pathogenic rs121434427 GRCh38 Chromosome 1, 161209912: 161209912
36 NDUFS2 NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln) single nucleotide variant Pathogenic rs121434428 GRCh37 Chromosome 1, 161179705: 161179705
37 NDUFS2 NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln) single nucleotide variant Pathogenic rs121434428 GRCh38 Chromosome 1, 161209915: 161209915
38 NDUFS2 NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro) single nucleotide variant Pathogenic rs121434429 GRCh37 Chromosome 1, 161183463: 161183463
39 NDUFS2 NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro) single nucleotide variant Pathogenic rs121434429 GRCh38 Chromosome 1, 161213673: 161213673
40 NDUFS4 NM_002495.2: c.466_470dupAAGTC duplication Pathogenic
41 NDUFS4 NM_002495.3(NDUFS4): c.291delG (p.Trp97Terfs) deletion Pathogenic rs121908985 GRCh37 Chromosome 5, 52942176: 52942176
42 NDUFS4 NM_002495.3(NDUFS4): c.291delG (p.Trp97Terfs) deletion Pathogenic rs121908985 GRCh38 Chromosome 5, 53646346: 53646346
43 NDUFS4 NM_002495.3(NDUFS4): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs104893898 GRCh37 Chromosome 5, 52942201: 52942201
44 NDUFS4 NM_002495.3(NDUFS4): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs104893898 GRCh38 Chromosome 5, 53646371: 53646371
45 NDUFS4 NM_002495.3(NDUFS4): c.44G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs104893899 GRCh37 Chromosome 5, 52856536: 52856536
46 NDUFS4 NM_002495.3(NDUFS4): c.44G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs104893899 GRCh38 Chromosome 5, 53560706: 53560706
47 NDUFS8 NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu) single nucleotide variant Likely pathogenic rs28939679 GRCh37 Chromosome 11, 67800614: 67800614
48 NDUFS8 NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu) single nucleotide variant Likely pathogenic rs28939679 GRCh38 Chromosome 11, 68033147: 68033147
49 NDUFS8 NM_002496.3(NDUFS8): c.305G> A (p.Arg102His) single nucleotide variant Uncertain significance rs121912638 GRCh37 Chromosome 11, 67800683: 67800683
50 NDUFS8 NM_002496.3(NDUFS8): c.305G> A (p.Arg102His) single nucleotide variant Uncertain significance rs121912638 GRCh38 Chromosome 11, 68033216: 68033216

Expression for Mitochondrial Complex I Deficiency

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

Pathways for Mitochondrial Complex I Deficiency

Pathways related to Mitochondrial Complex I Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

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 NDUFA13 NDUFAF1 NDUFB11
2 mitochondrial membrane GO:0031966 9.77 NDUFA1 NDUFA13 NDUFAF4 NDUFS3 TMEM126B
3 mitochondrial matrix GO:0005759 9.71 NDUFS1 NDUFS2 NDUFS3 NUBPL
4 respiratory chain GO:0070469 9.44 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFB11 NDUFB3
5 membrane GO:0016020 10.28 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFAF2 NDUFAF3
6 mitochondrial inner membrane GO:0005743 10.23 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFAF1 NDUFAF2
7 mitochondrion GO:0005739 10.11 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFAF1 NDUFAF2

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 NDUFA13 NDUFAF5 NDUFB11
2 reactive oxygen species metabolic process GO:0072593 9.65 NDUFA13 NDUFAF2 NDUFS1 NDUFS3 NDUFS4
3 cellular respiration GO:0045333 9.5 NDUFAF2 NDUFS1 NDUFS4
4 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.46 NDUFA13 NDUFS3
5 mitochondrion morphogenesis GO:0070584 9.43 NDUFS6 NUBPL
6 respiratory electron transport chain GO:0022904 9.4 NDUFAF2 NDUFS6
7 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.37 NDUFS2 NDUFV1
8 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.32 NDUFA1 NDUFAF1 NDUFB3 NDUFB9 NDUFS1 NDUFS2
9 mitochondrial respiratory chain complex I assembly GO:0032981 10.16 FOXRED1 NDUFA1 NDUFA11 NDUFA13 NDUFAF1 NDUFAF2

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 9.88 FOXRED1 NDUFAF5 NDUFS1 NDUFS2 NDUFS3 NDUFV1
2 iron-sulfur cluster binding GO:0051536 9.67 NDUFS1 NDUFS2 NDUFV1 NUBPL
3 electron transfer activity GO:0009055 9.65 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFS6
4 4 iron, 4 sulfur cluster binding GO:0051539 9.62 NDUFS1 NDUFS2 NDUFV1 NUBPL
5 NADH dehydrogenase activity GO:0003954 9.46 NDUFA13 NDUFS1 NDUFS2 NDUFS3
6 NAD binding GO:0051287 9.43 NDUFS2 NDUFV1
7 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.36 NDUFA1 NDUFA13 NDUFAF2 NDUFB3 NDUFB9 NDUFS1
8 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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