MCID: MTC007
MIFTS: 61

Mitochondrial Complex I Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency

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Aliases & Descriptions for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 49 10 45 22 47 67 65
Nadh:q(1) Oxidoreductase Deficiency 45 67 65
Complex 1 Mitochondrial Respiratory Chain Deficiency 45 67
Mitochondrial Complex 1 Deficiency 49 24
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 45
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 67
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 10
Mitochondrial Respiratory Chain Complex I Deficiency 22
 
Complex I Mitochondrial Respiratory Chain Deficiency 67
Isolated Nadh-Coenzyme Q Reductase Deficiency 10
Isolated Nadh-Ubiquinone Reductase Deficiency 10
Nadh:ubiquinone Oxidoreductase Deficiency 67
Isolated Nadh-Coq Reductase Deficiency 10
Nadh-Coenzyme Q Reductase Deficiency 67
Nadh Coenzyme Q Reductase Deficiency 45
Mt-C1d 67

Characteristics:

HPO:

61
mitochondrial complex i deficiency:
Onset and clinical course: phenotypic variability
Inheritance: mitochondrial inheritance, x-linked dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 252010
Disease Ontology10 DOID:0060536
ICD1027 G71.3
UMLS65 C2936907, C1838979

Summaries for Mitochondrial Complex I Deficiency

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OMIM:49 Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland... (252010) more...

MalaCards based summary: Mitochondrial Complex I Deficiency, also known as nadh:q(1) oxidoreductase deficiency, is related to leigh syndrome and mitochondrial complex i deficiency due to acad9 deficiency, and has symptoms including feeding difficulties in infancy, abnormal mitochondria in muscle tissue and acute necrotizing encephalopathy. An important gene associated with Mitochondrial Complex I Deficiency is NUBPL (Nucleotide Binding Protein Like), and among its related pathways are Metformin Pathway, Pharmacodynamics and Alzheimers disease. Affiliated tissues include liver, skeletal muscle and heart.

Disease Ontology:10 A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can be caused by mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.

NIH Rare Diseases:45 Mitochondrial complex i deficiency is a type of mitochondrial disease. mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. in mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. complex i is the first step in a chain reaction in mitochondria leading to energy production. signs and symptoms of complex i deficiency vary widely in nature and severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. features may include macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, leigh syndrome, leber hereditary optic neuropathy, and some forms of parkinson disease. the disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. treatment is only sometimes effective and may include metabolic therapies such as riboflavin, thiamine, biotin, co-enzyme q10, carnitine, and a ketogenic diet (a special high-fat, low-carbohydrate diet). last updated: 4/18/2014

UniProtKB/Swiss-Prot:67 Mitochondrial complex I deficiency: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.

Related Diseases for Mitochondrial Complex I Deficiency

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome29.3FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
2mitochondrial complex i deficiency due to acad9 deficiency12.3
3fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency12.2
4ndufaf5-related mitochondrial complex 1 deficiency12.1
5ledderhose disease10.5MT-ND1, MT-ND3
6gemistocytic astrocytoma10.3MT-ND3, NDUFA1, NDUFV1
7mitochondrial disorders10.2FOXRED1, MT-ND1, MT-ND3, NDUFS3
8mitochondrial dna-associated leigh syndrome and narp10.1FOXRED1, NDUFAF2, NDUFS3, NDUFS4
9cribriform carcinoma10.1NDUFS3, NDUFS4
10mitochondrial membrane protein-associated neurodegeneration10.1MT-ND1, MT-ND3, NDUFA1, NDUFS4
11mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.0FOXRED1, MT-ND1, MT-ND3, NDUFAF2, NDUFS3
12cerebellar ataxia10.0
13secretory diarrhea10.0
14ohtahara syndrome10.0
15choroiditis10.0
16diarrhea10.0
17hypogonadism10.0
18landau-kleffner syndrome10.0
19hypogonadotropism10.0
203-hydroxyacyl-coenzyme a dehydrogenase deficiency10.0
21ataxia10.0
22retinitis9.9
23lactic acidosis9.9
24optic nerve hypoplasia9.8
25neurofibromatosis, type 19.8
26hypophosphatemic rickets9.8
27charcot-marie-tooth disease9.8
28temporal lobe epilepsy9.8
29leukodystrophy9.8
30rickets9.8
31fanconi syndrome9.8
32tooth disease9.8
33dementia9.8
34lateral sclerosis9.8
35neurofibromatosis9.8
36encephalomyopathy9.8
37cardiomyopathy9.8
38fatal infantile lactic acidosis9.8
39encephalopathy9.8
40leigh syndrome with nephrotic syndrome9.2FOXRED1, NDUFAF2, NDUFAF5, NDUFS1, NDUFS2, NDUFS3
41thymus basaloid carcinoma8.8FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
42mitochondrial complex i deficiency6.8FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF1

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



Diseases related to mitochondrial complex i deficiency

Symptoms for Mitochondrial Complex I Deficiency

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Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

HPO human phenotypes related to Mitochondrial Complex I Deficiency:

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

UMLS symptoms related to Mitochondrial Complex I Deficiency:


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

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VitaminsPhase 33857
2UbiquinonePhase 392
3Trace ElementsPhase 33900
4MicronutrientsPhase 33901
5
Coenzyme Q10NutraceuticalPhase 3104303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Trial of Coenzyme Q10 in Mitochondrial DiseaseCompletedNCT00432744Phase 3
2North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Mitochondrial Complex I Deficiency

Genetic Tests for Mitochondrial Complex I Deficiency

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Genetic tests related to Mitochondrial Complex I Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Respiratory Chain Complex I Deficiency22
2 Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial Genes)22 MT-ND6
3 Mitochondrial Respiratory Chain Complex I Deficiency (nuclear Genes)22 NUBPL

Anatomical Context for Mitochondrial Complex I Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

33
Liver, Skeletal muscle, Heart, Pituitary, Temporal lobe, Lung, Endothelial

Animal Models for Mitochondrial Complex I Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Mitochondrial Complex I Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Mitochondrial Complex I Deficiency

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Articles related to Mitochondrial Complex I Deficiency:

(show all 50)
idTitleAuthorsYear
1
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. (27126960)
2016
2
Dementia in Parkinson's disease is associated with enhanced mitochondrial complex I deficiency. (26853899)
2016
3
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. (25418441)
2015
4
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. (26134164)
2015
5
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. (26024641)
2015
6
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. (25652399)
2015
7
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. (24963768)
2014
8
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. (24522811)
2014
9
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. (24895128)
2014
10
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. (24711935)
2014
11
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. (24476218)
2014
12
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. (23266820)
2013
13
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. (23378164)
2013
14
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. (24386581)
2013
15
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. (23836946)
2013
16
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. (23931755)
2013
17
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (22499348)
2012
18
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. (22036961)
2012
19
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. (22450425)
2012
20
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. (21757032)
2012
21
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. (20346082)
2012
22
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. (22099533)
2012
23
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. (22474353)
2012
24
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. (22142868)
2012
25
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. (21458341)
2011
26
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. (20107904)
2011
27
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. (22188452)
2011
28
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (19336460)
2009
29
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). (19089472)
2009
30
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (18396137)
2008
31
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. (18791645)
2008
32
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (18306244)
2008
33
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. (17985265)
2007
34
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. (15824269)
2005
35
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. (15372108)
2004
36
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. (12690563)
2003
37
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. (11743516)
2001
38
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (11349233)
2001
39
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. (11079540)
2000
40
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. (10669207)
2000
41
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
42
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. (10328281)
1999
43
Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. (9603924)
1998
44
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. (8755643)
1996
45
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. (8319712)
1993
46
Mitochondrial complex I deficiency in Parkinson's disease. (8420145)
1993
47
Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency. (1396914)
1992
48
Mitochondrial complex I deficiency in Parkinson's disease. (2154550)
1990
49
Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein. (2512443)
1989
50
Mitochondrial complex I deficiency in Parkinson's disease. (2566813)
1989

Variations for Mitochondrial Complex I Deficiency

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

67 (show all 30)
id Symbol AA change Variation ID SNP ID
1FOXRED1p.Asn430SerVAR_064571
2FOXRED1p.Arg352TrpVAR_073273
3MT-ND1p.Glu214LysVAR_073352
4MT-ND3p.Ser45ProVAR_035091
5MT-ND3p.Ala47ThrVAR_035092
6MT-ND3p.Ser34ProVAR_064564
7MT-ND5p.Phe124LeuVAR_035424
8MT-ND5p.Ala236ThrVAR_035427
9MT-ND5p.Met237LeuVAR_035428
10MT-ND5p.Asp393AsnVAR_035430
11MT-ND5p.Val253AlaVAR_064566
12MT-ND6p.Ala72ValVAR_004764
13MT-ND6p.Met63ValVAR_064568
14NDUFA1p.Gly8ArgVAR_035099
15NDUFA1p.Arg37SerVAR_035100
16NDUFAF3p.Gly77ArgVAR_058491
17NDUFAF3p.Arg122ProVAR_058492
18NDUFAF4p.Leu65ProVAR_044329
19NDUFAF5p.Leu229ProVAR_054119
20NDUFAF6p.Gln99ArgVAR_047770
21NDUFS1p.Arg241TrpVAR_019532
22NDUFS1p.Asp252GlyVAR_019533
23NDUFS2p.Arg228GlnVAR_019535
24NDUFS2p.Pro229GlnVAR_019536
25NDUFS2p.Ser413ProVAR_019537
26NDUFS7p.Val122MetVAR_008848
27NDUFV1p.Ala341ValVAR_008846
28NDUFV1p.Glu214LysVAR_019534
29NUBPLp.Asp105TyrVAR_069767
30NUBPLp.Leu193PheVAR_069768

Clinvar genetic disease variations for Mitochondrial Complex I Deficiency:

5 (show all 67)
id Gene Variation Type Significance SNP ID Assembly Location
1NDUFA1NM_004541.3(NDUFA1): c.22G> C (p.Gly8Arg)single nucleotide variantPathogenicrs104894884GRCh37Chr X, 119005896: 119005896
2NDUFA1NM_004541.3(NDUFA1): c.111G> C (p.Arg37Ser)single nucleotide variantPathogenicrs104894885GRCh37Chr X, 119007275: 119007275
3NDUFV1NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met)single nucleotide variantPathogenicrs121913659GRCh37Chr 11, 67379696: 67379696
4NDUFV1NM_007103.3(NDUFV1): c.175C> T (p.Arg59Ter)single nucleotide variantPathogenicrs768050261GRCh38Chr 11, 67608571: 67608571
5NDUFV1NM_007103.3(NDUFV1): c.640G> A (p.Glu214Lys)single nucleotide variantPathogenicrs121913661GRCh37Chr 11, 67377981: 67377981
6NDUFV1NDUFV1, IVS8DS, A-C, +4single nucleotide variantPathogenic
7NDUFS1NM_005006.6(NDUFS1): c.666_668delCAT (p.Ile223del)deletionPathogenicrs397515383GRCh37Chr 2, 207011696: 207011698
8NDUFS1NM_005006.6(NDUFS1): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs199422224GRCh37Chr 2, 207009733: 207009733
9NDUFS1NM_005006.6(NDUFS1): c.721C> T (p.Arg241Trp)single nucleotide variantPathogenicrs199422225GRCh37Chr 2, 207011643: 207011643
10NDUFS1NM_005006.6(NDUFS1): c.691C> G (p.Leu231Val)single nucleotide variantPathogenicrs199422226GRCh37Chr 2, 207011673: 207011673
11NDUFAF2NM_174889.4(NDUFAF2): c.139C> T (p.Arg47Ter)single nucleotide variantPathogenicrs137852863GRCh37Chr 5, 60368963: 60368963
12NUBPLNM_025152.2(NUBPL): c.311T> C (p.Leu104Pro)single nucleotide variantLikely pathogenic, Pathogenicrs201430951GRCh37Chr 14, 32068514: 32068514
13NDUFB3NDUFB3, TRP22ARGsingle nucleotide variantPathogenic
14NDUFAF1NM_016013.3(NDUFAF1): c.619A> C (p.Thr207Pro)single nucleotide variantPathogenicrs387906956GRCh37Chr 15, 41687197: 41687197
15NDUFAF1NM_016013.3(NDUFAF1): c.758A> G (p.Lys253Arg)single nucleotide variantPathogenicrs387906957GRCh37Chr 15, 41687058: 41687058
16NDUFAF1NM_016013.3(NDUFAF1): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs387906958GRCh37Chr 15, 41687185: 41687185
17NDUFAF1NDUFAF1, GLY245ARGundetermined variantPathogenic
18FOXRED1NM_017547.3(FOXRED1): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs387907087GRCh37Chr 11, 126146371: 126146371
19NDUFS1NM_005006.6(NDUFS1): c.1783A> G (p.Thr595Ala)single nucleotide variantPathogenicrs387907199GRCh37Chr 2, 206992622: 206992622
20NDUFA1NM_004541.3(NDUFA1): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs1801316GRCh37Chr X, 119005968: 119005968
21NDUFS8NM_002496.3(NDUFS8): c.229C> T (p.Arg77Trp)single nucleotide variantPathogenicrs146766138GRCh37Chr 11, 67800607: 67800607
22NDUFS8NM_002496.3(NDUFS8): c.476C> A (p.Ala159Asp)single nucleotide variantPathogenicrs397514617GRCh37Chr 11, 67803823: 67803823
23NDUFS8NM_002496.3(NDUFS8): c.187G> C (p.Glu63Gln)single nucleotide variantPathogenicrs397514618GRCh37Chr 11, 67800467: 67800467
24NDUFB3NM_002491.2(NDUFB3): c.208G> T (p.Gly70Ter)single nucleotide variantPathogenicrs200800978GRCh37Chr 2, 201950249: 201950249
25NDUFS4NM_002495.3(NDUFS4): c.462delA (p.Lys154Asnfs)deletionPathogenicrs587776949GRCh38Chr 5, 53683155: 53683155
26NDUFAF3NM_199074.1(NDUFAF3): c.58G> C (p.Gly20Arg)single nucleotide variantPathogenicrs121918134GRCh37Chr 3, 49059930: 49059930
27NDUFAF3NM_199074.1(NDUFAF3): c.194G> C (p.Arg65Pro)single nucleotide variantPathogenicrs121918135GRCh37Chr 3, 49060336: 49060336
28NDUFAF3NM_199069.1(NDUFAF3): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121918136GRCh37Chr 3, 49059579: 49059579
29FOXRED1NM_017547.3(FOXRED1): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs267606829GRCh37Chr 11, 126145284: 126145284
30NUBPLNUBPL, 10-BP INS, NT667insertionPathogenic
31NUBPLNM_025152.2(NUBPL): c.313G> T (p.Asp105Tyr)single nucleotide variantPathogenicrs397515440GRCh37Chr 14, 32068516: 32068516
32NUBPLNUBPL, IVS8DS, G-A, +1single nucleotide variantPathogenic
33NUBPLNUBPL, LEU193PHEundetermined variantPathogenic
34NDUFS1NM_005006.6(NDUFS1): c.1855G> A (p.Asp619Asn)single nucleotide variantPathogenicrs397515447GRCh37Chr 2, 206992550: 206992550
35NDUFS1NM_005006.6(NDUFS1): c.1669C> T (p.Arg557Ter)single nucleotide variantPathogenicrs372691318GRCh37Chr 2, 206994851: 206994851
36NDUFS1NM_005006.6(NDUFS1): c.1222C> T (p.Arg408Cys)single nucleotide variantPathogenicrs149271416GRCh37Chr 2, 207006705: 207006705
37NDUFA11NDUFA11, IVS1DS, G-A, +5single nucleotide variantPathogenic
38NDUFAF5NM_024120.4(NDUFAF5): c.686T> C (p.Leu229Pro)single nucleotide variantPathogenicrs118203929GRCh37Chr 20, 13782298: 13782298
39NDUFAF5NM_024120.4(NDUFAF5): c.477A> C (p.Leu159Phe)single nucleotide variantPathogenicrs267606689GRCh37Chr 20, 13775585: 13775585
40FOXRED1NM_017547.3(FOXRED1): c.1289A> G (p.Asn430Ser)single nucleotide variantPathogenicrs267606830GRCh37Chr 11, 126147412: 126147412
41NDUFS6NDUFS6, IVS2DS, T-A, +2single nucleotide variantPathogenic
42NDUFS6NG_013354.1: g.16053_20227del4175deletionPathogenicGRCh38Chr 5, 1812434: 1816608
43NDUFS6NM_004553.4(NDUFS6): c.344G> A (p.Cys115Tyr)single nucleotide variantPathogenicrs267606913GRCh37Chr 5, 1815999: 1815999
44NDUFS3NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp)single nucleotide variantPathogenicrs104894270GRCh37Chr 11, 47603988: 47603988
45NDUFB9NDUFB9, LEU64PROsingle nucleotide variantPathogenic
46NDUFS2NM_004550.4(NDUFS2): c.683G> A (p.Arg228Gln)single nucleotide variantPathogenicrs121434427GRCh37Chr 1, 161179702: 161179702
47NDUFS2NM_004550.4(NDUFS2): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs121434428GRCh37Chr 1, 161179705: 161179705
48NDUFS2NM_004550.4(NDUFS2): c.1237T> C (p.Ser413Pro)single nucleotide variantPathogenicrs121434429GRCh37Chr 1, 161183463: 161183463
49NDUFS4NDUFS4, 5-BP DUPduplicationPathogenic
50NDUFS4NM_002495.3(NDUFS4): c.291delG (p.Trp97Terfs)deletionPathogenicrs121908985GRCh37Chr 5, 52942176: 52942176
51NDUFS4NM_002495.3(NDUFS4): c.44G> A (p.Trp15Ter)single nucleotide variantPathogenicrs104893899GRCh37Chr 5, 52856536: 52856536
52NDUFS8NM_002496.3(NDUFS8): c.236C> T (p.Pro79Leu)single nucleotide variantPathogenicrs28939679GRCh37Chr 11, 67800614: 67800614
53NDUFS8NM_002496.3(NDUFS8): c.305G> A (p.Arg102His)single nucleotide variantPathogenicrs121912638GRCh37Chr 11, 67800683: 67800683
54NDUFS8NM_002496.3(NDUFS8): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121912639GRCh37Chr 11, 67800632: 67800632
55NDUFS8NM_002496.3(NDUFS8): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs111033588GRCh37Chr 11, 67803760: 67803760
56NDUFAF4NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro)single nucleotide variantPathogenicrs63751061GRCh37Chr 6, 97344666: 97344666
57NC_000014.9deletionPathogenicGRCh37Chr 14, 31863225: 32125095
58NDUFV2NDUFV2, 4-BP DEL, NT5deletionPathogenic
59FOXRED1NM_017547.3(FOXRED1): c.612_615dupAGTG (p.Ala206Serfs)duplicationLikely pathogenic, Pathogenicrs398124308GRCh37Chr 11, 126144897: 126144900
60MT-TNm.5728T> Csingle nucleotide variantPathogenicrs199476132GRCh37Chr MT, 5728: 5728
61MT-ND4m.11777C> Asingle nucleotide variantPathogenicrs28384199GRCh37Chr MT, 11777: 11777
62MT-ND3m.10191T> Csingle nucleotide variantPathogenicrs267606890GRCh37Chr MT, 10191: 10191
63MT-ND3m.10158T> Csingle nucleotide variantPathogenicrs199476117GRCh37Chr MT, 10158: 10158
64MT-ND2m.5132_5133delAAdeletionPathogenicrs199476116GRCh37Chr MT, 5132: 5133
65MT-ND2m.4810G> Asingle nucleotide variantPathogenicrs267606888GRCh37Chr MT, 4810: 4810
66MT-ND1m.3460G> Asingle nucleotide variantPathogenicrs199476118GRCh37Chr MT, 3460: 3460
67MT-ND1m.3902_3908invACCTTGCinversionPathogenicGRCh37Chr MT, 3902: 3908

Expression for genes affiliated with Mitochondrial Complex I Deficiency

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

Pathways for genes affiliated with Mitochondrial Complex I Deficiency

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GO Terms for genes affiliated with Mitochondrial Complex I Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:000574710.2FOXRED1, NDUFAF1
2myelin sheathGO:004320910.1NDUFS1, NDUFS3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1electron transport chainGO:002290010.7NDUFB3, NDUFS4
2mitochondrion morphogenesisGO:007058410.7NDUFS6, NUBPL
3reactive oxygen species metabolic processGO:007259310.5NDUFAF2, NDUFS1
4mitochondrial respiratory chain complex I assemblyGO:003298110.3NDUFAF1, NDUFB9, NDUFS6
5respiratory electron transport chainGO:00229049.9MT-ND3, NDUFAF2, NDUFS4, NDUFS6
6cellular metabolic processGO:00442379.7NDUFAF5, NDUFS1, NDUFS3, NDUFS4
7mitochondrial electron transport, NADH to ubiquinoneGO:00061209.4MT-ND3, NDUFA11, NDUFB3, NDUFS2, NDUFS3, NDUFS4
8oxidation-reduction processGO:00551149.1MT-ND1, MT-ND3, NDUFS1, NDUFS2, NDUFS3, NDUFV1

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on NAD(P)HGO:001665110.5NDUFS2, NDUFV1
2electron carrier activityGO:000905510.1NDUFS2, NDUFS3
34 iron, 4 sulfur cluster bindingGO:00515399.8NDUFS2, NDUFV1, NUBPL
4NADH dehydrogenase (ubiquinone) activityGO:00081379.1NDUFAF2, NDUFS1, NDUFS2, NDUFS3, NDUFS6, NDUFV1

Sources for Mitochondrial Complex I Deficiency

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