MT-C1D
MCID: MTC007
MIFTS: 61

Mitochondrial Complex I Deficiency (MT-C1D) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency

Aliases & Descriptions for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 54 12 50 24 24 66 52 42 14 69
Nadh:q(1) Oxidoreductase Deficiency 50 66 69
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 12 50
Complex 1 Mitochondrial Respiratory Chain Deficiency 50 66
Isolated Nadh-Coenzyme Q Reductase Deficiency 12 50
Isolated Nadh-Ubiquinone Reductase Deficiency 12 50
Isolated Nadh-Coq Reductase Deficiency 12 50
Mitochondrial Complex 1 Deficiency 54 29
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 50
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 66
Complex I, Mitochondrial Respiratory Chain, Deficiency of 13
Mitochondrial Respiratory Chain Complex I Deficiency 24
Complex I Mitochondrial Respiratory Chain Deficiency 66
Nadh:ubiquinone Oxidoreductase Deficiency 66
Nadh Coenzyme Q Reductase Deficiency 50
Nadh-Coenzyme Q Reductase Deficiency 66
Isolated Complex I Deficiency 50
Mt-C1d 66

Characteristics:

HPO:

32
mitochondrial complex i deficiency:
Inheritance autosomal recessive inheritance mitochondrial inheritance x-linked dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 252010
Disease Ontology 12 DOID:0060536
UMLS 69 C2936907

Summaries for Mitochondrial Complex I Deficiency

OMIM : 54 Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland... (252010) more...

MalaCards based summary : Mitochondrial Complex I Deficiency, also known as nadh:q(1) oxidoreductase deficiency, is related to mitochondrial complex i deficiency due to acad9 deficiency and fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency, and has symptoms including ataxia, 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.. The drugs Ubiquinone and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart, and related phenotype is Increased shRNA abundance (Z-score > 2).

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.

NIH Rare Diseases : 50 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 : 66 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

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency due to acad9 deficiency 12.4
2 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 12.1
3 ndufaf5-related mitochondrial complex 1 deficiency 12.0
4 leigh syndrome 11.6
5 nephronophthisis-like nephropathy 1 11.0
6 moloney syndrome 10.3 FOXRED1 NDUFS3
7 myopathy with deficiency of iscu 10.2 FOXRED1 NDUFAF2 NDUFS3 NDUFS4
8 lentigo maligna melanoma 10.2 MT-ND1 MT-ND3
9 ndp-related retinopathies 10.2 FOXRED1 MT-ND1 MT-ND3 NDUFS3
10 alopecia, androgenetic, 2 10.2 MT-ND1 MT-ND3 NDUFA1 NDUFS4
11 nkx2-1-related disorders 10.2 MT-ND1 MT-ND3 NDUFA1 NDUFS4
12 mucinous intrahepatic cholangiocarcinoma 10.2 MT-ND3 NDUFA1 NDUFAF2 NDUFS1 NDUFS4 NDUFV1
13 hereditary breast ovarian cancer 10.1 NDUFS3 NDUFS4
14 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 10.0 FOXRED1 NDUFAF2 NDUFAF5 NDUFS1 NDUFS2 NDUFS3
15 retinitis 9.8
16 lactic acidosis 9.8
17 bjornstad syndrome 9.7 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF2
18 fanconi syndrome 9.7
19 tooth disease 9.7
20 dementia 9.7
21 epilepsy 9.7
22 lateral sclerosis 9.7
23 neurofibromatosis 9.7
24 optic nerve hypoplasia 9.7
25 encephalomyopathy 9.7
26 neurofibromatosis, type 1 9.7
27 cardiomyopathy 9.7
28 fatal infantile lactic acidosis 9.7
29 hypophosphatemic rickets 9.7
30 charcot-marie-tooth disease 9.7
31 encephalopathy 9.7
32 temporal lobe epilepsy 9.7
33 leukodystrophy 9.7
34 rickets 9.7
35 autoimmune interstitial lung, joint, and kidney disease 9.5 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF1

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



Diseases related to Mitochondrial Complex I Deficiency

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency

Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

Human phenotypes related to Mitochondrial Complex I Deficiency:

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

UMLS symptoms related to Mitochondrial Complex I Deficiency:


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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 NDUFA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.09 NDUFA11 NDUFV2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.09 NDUFS1 NDUFV1 NDUFV2 NDUFA1 NDUFB9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.09 NDUFB9 NDUFS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.09 NDUFA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.09 NDUFB9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.09 NDUFA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.09 NDUFS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.09 NDUFA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.09 NDUFS1 NDUFV2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 NDUFA11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.09 NDUFS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 NDUFS1 NDUFV1 NDUFA11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.09 NDUFA11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.09 NDUFV2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 NDUFV2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.09 NDUFB9
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 NDUFS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.09 NDUFB9
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.09 NDUFS1 NDUFV1 NDUFV2 NDUFA1 NDUFA11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 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

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

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone Phase 3
2 Trace Elements Phase 3
3 Vitamins Phase 3
4 Micronutrients Phase 3
5 Rosuvastatin Calcium Phase 2, Phase 3 147098-20-2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2, Phase 3
7 Hypolipidemic Agents Phase 2, Phase 3
8 Anticholesteremic Agents Phase 2, Phase 3
9 Lipid Regulating Agents Phase 2, Phase 3
10 Antimetabolites Phase 2, Phase 3
11 Calcium, Dietary Phase 2, Phase 3
12
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3
2 Effect of Rosuvastatin on Endothelial Function Terminated NCT00986999 Phase 2, Phase 3
3 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search 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:

id Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency 29
2 Mitochondrial Respiratory Chain Complex I Deficiency 24
3 Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial Genes) 24 MT-ND6
4 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear Genes) 24 NUBPL NDUFS2 NDUFB3 NDUFAF3 NDUFS6 NDUFS4 NDUFAF2 NDUFAF4 NDUFB9 NDUFS3 NDUFV1 FOXRED1 NDUFAF1 NDUFV2 NDUFA11 NDUFA5

Anatomical Context for Mitochondrial Complex I Deficiency

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

39
Liver, Skeletal Muscle, Heart, Temporal Lobe

Publications for Mitochondrial Complex I Deficiency

Articles related to Mitochondrial Complex I Deficiency:

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

Variations for Mitochondrial Complex I Deficiency

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

66 (show all 35)
id 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
22 NDUFAF6 p.Ser76Pro VAR_076273
23 NDUFAF6 p.Ile124Thr VAR_076274 rs201732170
24 NDUFAF6 p.His269Asp VAR_076275 rs768273248
25 NDUFAF6 p.Arg274Gly VAR_076276
26 NDUFS1 p.Arg241Trp VAR_019532 rs199422225
27 NDUFS1 p.Asp252Gly VAR_019533 rs199422224
28 NDUFS2 p.Arg228Gln VAR_019535 rs121434427
29 NDUFS2 p.Pro229Gln VAR_019536 rs121434428
30 NDUFS2 p.Ser413Pro VAR_019537 rs121434429
31 NDUFS7 p.Val122Met VAR_008848 rs104894705
32 NDUFV1 p.Ala341Val VAR_008846 rs121913660
33 NDUFV1 p.Glu214Lys VAR_019534 rs121913661
34 NUBPL p.Asp105Tyr VAR_069767 rs397515440
35 NUBPL p.Leu193Phe VAR_069768

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency:

6 (show top 50) (show all 74)
id 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 NDUFAF3 NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg) single nucleotide variant Pathogenic rs121918134 GRCh37 Chromosome 3, 49059930: 49059930
5 NDUFAF3 NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs121918135 GRCh37 Chromosome 3, 49060336: 49060336
6 NDUFAF3 NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918136 GRCh37 Chromosome 3, 49059579: 49059579
7 NDUFA11 NDUFA11, IVS1DS, G-A, +5 single nucleotide variant Pathogenic
8 NDUFAF5 NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro) single nucleotide variant Pathogenic rs118203929 GRCh37 Chromosome 20, 13782298: 13782298
9 NDUFAF5 NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe) single nucleotide variant Pathogenic rs267606689 GRCh37 Chromosome 20, 13775585: 13775585
10 NDUFAF4 NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs63751061 GRCh37 Chromosome 6, 97344666: 97344666
11 NDUFAF2 NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs137852863 GRCh37 Chromosome 5, 60368963: 60368963
12 NDUFS6 NDUFS6, IVS2DS, T-A, +2 single nucleotide variant Pathogenic
13 NDUFS6 NG_013354.1: g.16053_20227del4175 deletion Pathogenic GRCh38 Chromosome 5, 1812434: 1816608
14 NDUFS6 NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr) single nucleotide variant Pathogenic rs267606913 GRCh37 Chromosome 5, 1815999: 1815999
15 NDUFS3 NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp) single nucleotide variant Pathogenic rs104894270 GRCh37 Chromosome 11, 47603988: 47603988
16 NDUFS2 NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln) single nucleotide variant Pathogenic rs121434427 GRCh37 Chromosome 1, 161179702: 161179702
17 NDUFS2 NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln) single nucleotide variant Pathogenic rs121434428 GRCh37 Chromosome 1, 161179705: 161179705
18 NDUFS2 NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro) single nucleotide variant Pathogenic rs121434429 GRCh37 Chromosome 1, 161183463: 161183463
19 NDUFS4 NDUFS4, 5-BP DUP duplication Pathogenic
20 NDUFS4 NM_002495.3(NDUFS4): c.291delG (p.Trp97Terfs) deletion Pathogenic rs121908985 GRCh37 Chromosome 5, 52942176: 52942176
21 NDUFS4 NM_002495.3(NDUFS4): c.44G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs104893899 GRCh37 Chromosome 5, 52856536: 52856536
22 NDUFS8 NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939679 GRCh37 Chromosome 11, 67800614: 67800614
23 NDUFS8 NM_002496.3(NDUFS8): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs121912639 GRCh37 Chromosome 11, 67800632: 67800632
24 NDUFS8 NM_002496.3(NDUFS8): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs111033588 GRCh37 Chromosome 11, 67803760: 67803760
25 NDUFV2 NDUFV2, 4-BP DEL, NT5 deletion Pathogenic
26 MT-TN m.5728T> C single nucleotide variant Pathogenic rs199476132 GRCh37 Chromosome MT, 5728: 5728
27 MT-ND4 m.11777C> A single nucleotide variant Pathogenic rs28384199 GRCh37 Chromosome MT, 11777: 11777
28 MT-ND3 m.10191T> C single nucleotide variant Pathogenic rs267606890 GRCh37 Chromosome MT, 10191: 10191
29 MT-ND3 m.10158T> C single nucleotide variant Pathogenic rs199476117 GRCh37 Chromosome MT, 10158: 10158
30 MT-ND2 m.5132_5133delAA deletion Pathogenic rs199476116 GRCh37 Chromosome MT, 5132: 5133
31 MT-ND2 m.4810G> A single nucleotide variant Pathogenic rs267606888 GRCh37 Chromosome MT, 4810: 4810
32 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh37 Chromosome MT, 3460: 3460
33 MT-ND1 m.3902_3908invACCTTGC inversion Pathogenic GRCh37 Chromosome MT, 3902: 3908
34 NDUFA1 NM_004541.3(NDUFA1): c.22G> C (p.Gly8Arg) single nucleotide variant Pathogenic rs104894884 GRCh37 Chromosome X, 119005896: 119005896
35 NDUFA1 NM_004541.3(NDUFA1): c.111G> C (p.Arg37Ser) single nucleotide variant Pathogenic rs104894885 GRCh37 Chromosome X, 119007275: 119007275
36 NDUFV1 NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met) single nucleotide variant Pathogenic rs121913659 GRCh37 Chromosome 11, 67379696: 67379696
37 NDUFV1 NM_007103.3(NDUFV1): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs768050261 GRCh38 Chromosome 11, 67608571: 67608571
38 NDUFV1 NM_007103.3(NDUFV1): c.640G> A (p.Glu214Lys) single nucleotide variant Pathogenic rs121913661 GRCh37 Chromosome 11, 67377981: 67377981
39 NDUFV1 NDUFV1, IVS8DS, A-C, +4 single nucleotide variant Pathogenic
40 NDUFS1 NM_005006.6(NDUFS1): c.666_668delCAT (p.Ile223del) deletion Pathogenic rs397515383 GRCh37 Chromosome 2, 207011696: 207011698
41 NDUFS1 NM_005006.6(NDUFS1): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs199422224 GRCh37 Chromosome 2, 207009733: 207009733
42 NDUFS1 NM_005006.6(NDUFS1): c.721C> T (p.Arg241Trp) single nucleotide variant Pathogenic rs199422225 GRCh37 Chromosome 2, 207011643: 207011643
43 NDUFS1 NM_005006.6(NDUFS1): c.691C> G (p.Leu231Val) single nucleotide variant Pathogenic rs199422226 GRCh37 Chromosome 2, 207011673: 207011673
44 NDUFB3 NDUFB3, TRP22ARG single nucleotide variant Pathogenic
45 NDUFAF1 NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro) single nucleotide variant Pathogenic rs387906956 GRCh37 Chromosome 15, 41687197: 41687197
46 NDUFAF1 NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg) single nucleotide variant Pathogenic rs387906957 GRCh37 Chromosome 15, 41687058: 41687058
47 NDUFAF1 NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs387906958 GRCh37 Chromosome 15, 41687185: 41687185
48 NDUFAF1 NDUFAF1, GLY245ARG undetermined variant Pathogenic
49 FOXRED1 NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs387907087 GRCh37 Chromosome 11, 126146371: 126146371
50 NDUFS1 NM_005006.6(NDUFS1): c.1783A> G (p.Thr595Ala) single nucleotide variant Pathogenic rs387907199 GRCh37 Chromosome 2, 206992622: 206992622

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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I GO:0005747 9.83 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF1
2 mitochondrial membrane GO:0031966 9.72 MT-ND1 MT-ND3 NDUFA1 NDUFAF4 NDUFS3
3 mitochondrial matrix GO:0005759 9.71 NDUFS1 NDUFS2 NDUFS3 NUBPL
4 myelin sheath GO:0043209 9.61 NDUFS1 NDUFS3 NDUFV2
5 respiratory chain GO:0070469 9.47 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFB3
6 membrane GO:0016020 10.32 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF2
7 mitochondrial inner membrane GO:0005743 10.23 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF1
8 mitochondrion GO:0005739 10.11 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF1

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.83 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF5
2 cellular respiration GO:0045333 9.65 MT-ND1 NDUFAF2 NDUFS1 NDUFS3 NDUFS4
3 reactive oxygen species metabolic process GO:0072593 9.62 NDUFAF2 NDUFS1 NDUFS3 NDUFS4
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.47 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF1 NDUFB3
5 respiratory electron transport chain GO:0022904 9.46 NDUFAF2 NDUFS6
6 mitochondrion morphogenesis GO:0070584 9.43 NDUFS6 NUBPL
7 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.4 NDUFS2 NDUFV1
8 electron transport chain GO:0022900 9.37 NDUFB3 NDUFS4
9 mitochondrial respiratory chain complex I assembly GO:0032981 10.16 FOXRED1 MT-ND1 MT-ND3 NDUFA1 NDUFA11 NDUFAF1

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 FOXRED1 MT-ND1 MT-ND3 NDUFAF5 NDUFS1 NDUFS2
2 iron-sulfur cluster binding GO:0051536 9.72 NDUFS1 NDUFS2 NDUFV1 NDUFV2 NUBPL
3 4 iron, 4 sulfur cluster binding GO:0051539 9.67 NDUFS1 NDUFS2 NDUFV1 NUBPL
4 electron carrier activity GO:0009055 9.63 NDUFAF2 NDUFS1 NDUFS2 NDUFS3 NDUFS6 NDUFV2
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.44 MT-ND1 MT-ND3 NDUFA1 NDUFAF2 NDUFB3 NDUFB9
6 2 iron, 2 sulfur cluster binding GO:0051537 9.43 NDUFS1 NDUFV2
7 NADH dehydrogenase activity GO:0003954 9.4 NDUFS2 NDUFS3
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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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65 SNOMED-CT via Orphanet
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68 Tocris
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70 UMLS via Orphanet
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