MCID: MTC007
MIFTS: 59

Mitochondrial Complex I Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency

About this section

Aliases & Descriptions for Mitochondrial Complex I Deficiency:

Name: Mitochondrial Complex I Deficiency 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

About this section
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, breast and skeletal muscle.

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

About this section

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome30.5FOXRED1, MT-ND1, MT-ND3, NDUFA1, NDUFA11, NDUFAF2
2mitochondrial complex i deficiency due to acad9 deficiency12.7
3fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency12.6
4ndufaf5-related mitochondrial complex 1 deficiency12.5
5ledderhose disease10.3MT-ND1, MT-ND3
6gemistocytic astrocytoma10.2MT-ND3, NDUFA1, NDUFV1
7congestive heart failure10.1
8pancreatitis10.1
9mitochondrial disorders10.1FOXRED1, MT-ND1, MT-ND3, NDUFS3
10mitochondrial dna-associated leigh syndrome and narp10.1FOXRED1, NDUFAF2, NDUFS3, NDUFS4
11cribriform carcinoma10.1NDUFS3, NDUFS4
12mitochondrial membrane protein-associated neurodegeneration10.0MT-ND1, MT-ND3, NDUFA1, NDUFS4
13mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.0FOXRED1, MT-ND1, MT-ND3, NDUFAF2, NDUFS3
14pheochromocytoma10.0
15coronary artery disease10.0
16west nile virus10.0
17aspergillosis10.0
18acne10.0
19chronic inflammatory demyelinating polyneuropathy10.0
20gastric cancer10.0
21hepatitis10.0
22hepatitis b10.0
23leukemia10.0
24ulcerative colitis10.0
25paraganglioma10.0
26artery disease10.0
27glomerulosclerosis10.0
28lymphoma10.0
29colitis10.0
30lymphoblastic leukemia10.0
31portal hypertension10.0
32western equine encephalitis10.0
33hepatorenal syndrome10.0
34bell's palsy10.0
35vestibular neuronitis10.0
36allergic bronchopulmonary aspergillosis10.0
37polyneuropathy10.0
38amenorrhea10.0
39neuroendocrine tumor10.0
40gastric antral vascular ectasia10.0
41angiodysplasia10.0
42dermatitis10.0
43contact dermatitis10.0
44adenocarcinoma10.0
45allergic contact dermatitis10.0
46astrocytoma10.0
47papillary adenocarcinoma10.0
48teratocarcinoma10.0
49benign epilepsy with centrotemporal spikes10.0
50pseudomyxoma peritonei10.0

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



Diseases related to mitochondrial complex i deficiency

Symptoms for Mitochondrial Complex I Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

252010

Clinical features from OMIM:

252010

HPO human phenotypes related to Mitochondrial Complex I Deficiency:

(show all 36)
id Description Frequency HPO Source Accession
1 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

Drugs & Therapeutics for Mitochondrial Complex I Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
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

About this section

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

About this section

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency:

33
Liver, Breast, Skeletal muscle, Heart, Temporal lobe, Pituitary

Animal Models for Mitochondrial Complex I Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Mitochondrial Complex I Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Mitochondrial Complex I Deficiency

About this section

Articles related to Mitochondrial Complex I Deficiency:

(show all 48)
idTitleAuthorsYear
1
Oligosaccharide modification by N-acetylglucosaminyltransferase-V in macrophages are involved in pathogenesis of bleomycin-induced scleroderma. (25876794)
2015
2
Preoperative Presentation of a Variant of Cerebellar Mutism Syndrome in a Young Boy With Juvenile Pilocytic Astrocytoma. (26145481)
2015
3
The role of IVS14+1 G > A genotype detection in the dihydropyrimidine dehydrogenase gene and pharmacokinetic monitoring of 5-fluorouracil in the individualized adjustment of 5-fluorouracil for patients with local advanced and metastatic colorectal cancer: a preliminary report. (24817302)
2014
4
Malignant mesothelioma: development to therapy. (23959774)
2014
5
Second case report of successful electroconvulsive therapy for a patient with schizophrenia and severe hemophilia A. (24876778)
2014
6
Antitumor effects of two extracts from Oxytropis falcata on hepatocellular carcinoma in vitro and in vivo. (24359777)
2013
7
An unusual case of chronic diarrhea. Lansoprazole-induced microscopic colitis. (23491834)
2013
8
Endovascular Abdominal Aortic Aneurysm Repair in Patients with Renal Transplants: Reports of Two Cases. (23995343)
2013
9
Corneal endothelium after deep anterior lamellar keratoplasty and penetrating keratoplasty for keratoconus: a four-year comparative study. (22218243)
2012
10
Identification and expression analysis of a novel transcript of the human PRMT2 gene resulted from alternative polyadenylation in breast cancer. (21820040)
2011
11
Leptin upregulates telomerase activity and transcription of human telomerase reverse transcriptase in MCF-7 breast cancer cells. (20171193)
2010
12
Selective Glucocorticoid Receptor modulators. (20206690)
2010
13
Dissecting the cAMP-inducible allosteric switch in protein kinase A RIalpha. (20512974)
2010
14
Treatment of polymyalgia rheumatica: a systematic review. (19901135)
2009
15
Bariatric surgery in patients with type 2 diabetes: benefits, risks, indications and perspectives. (20152741)
2009
16
Angiopoietin-2 levels as a biomarker of cardiovascular risk in patients with hypertension. (18382887)
2008
17
Some assembly required: renal hypodysplasia and the problem with faulty parts. (18385415)
2008
18
Development of a real-time PCR assay for the diagnosis of scrub typhus cases in India and evidence of the prevalence of new genotype of O. tsutsugamushi. (17870041)
2007
19
Chromoblastomycosis caused by Chaetomium funicola: a case report from Western Panama. (17634084)
2007
20
No association of the MDM2 SNP309 polymorphism with risk of breast or ovarian cancer. (16239061)
2006
21
Genetic polymorphisms in the DNA double-strand break repair genes XRCC3, XRCC2, and NBS1 are not associated with acute side effects of radiotherapy in breast cancer patients. (16702393)
2006
22
A case of discoid lupus erythematosus of the eyelid. (16700672)
2006
23
CYP17 gene polymorphism in relation to breast cancer risk: a case-control study. (16280037)
2005
24
Endocrine system of the gastrointestinal tract. Pathophysiology with a clinical view]. (15305639)
2004
25
Association of distinct alpha(2) adrenoceptor and serotonin transporter polymorphisms with constipation and somatic symptoms in functional gastrointestinal disorders. (15138209)
2004
26
1-Benzyl-1,2,3,4-tetrahydroisoquinoline, a Parkinsonism-inducing endogenous toxin, increases alpha-synuclein expression and causes nuclear damage in human dopaminergic cells. (15114628)
2004
27
Activation of cytochrome c to a peroxidase compound I-type intermediate by H2O2: relevance to redox signalling in apoptosis. (15777015)
2004
28
Regulation of p73 by c-Abl through the p38 MAP kinase pathway. (11840343)
2002
29
Views on esomeprazole-based triple therapy to treat duodenal ulcer disease and Helicobacter pylori infection. (12072608)
2002
30
Identification of protective components of two major outer membrane proteins of spotted fever group Rickettsiae. (11693887)
2001
31
COP9 signalosome-directed c-Jun activation/stabilization is independent of JNK. (10585392)
1999
32
Plasma platelet-activating factor acetylhydrolase activity in human immunodeficiency virus infection and the acquired immunodeficiency syndrome. (10599983)
1999
33
Refinement of genetic localization of the AlstrAPm syndrome on chromosome 2p12-13 by linkage analysis in a North African family. (9921899)
1998
34
Inhibition of the adenylyl cyclase and activation of the phosphatidylinositol pathway in oocytes through expression of serotonin receptors does not induce oocyte maturation. (9437851)
1998
35
Diffusion-weighted MRI in transient global amnesia: elevated signal intensity in the left mesial temporal lobe in 7 of 10 patients. (9485057)
1998
36
How does treatment influence endocrine mechanisms in acute severe heart failure? Effects on cardiac natriuretic peptides, the renin system, neuropeptide Y and catecholamines. (9854456)
1998
37
ICE-protease inhibitors block murine liver injury and apoptosis caused by CD95 or by TNF-alpha. (9093874)
1997
38
Disrupted murine leukemia inhibitory factor (LIF) gene attenuates adrenocorticotropic hormone (ACTH) secretion. (8770940)
1996
39
Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. (7929238)
1994
40
Calnexin: a membrane-bound chaperone of the endoplasmic reticulum. (8203019)
1994
41
Management of dengue haemorrhagic fever/dengue shock syndrome. (8277786)
1993
42
Phosphorylation of p90 and p52 in response to phorbol-esters in Swiss/3T3 cells overexpressing protein kinase C-alpha. (1421577)
1992
43
Radioimmunoassay for human insulin-like growth factor-I receptor: applicability to breast carcinoma specimens and cell lines. (1650422)
1991
44
Vitamin B12 deficiency. Important new concepts in recognition. (2204895)
1990
45
Thymulin and zinc circulating levels in patients with GH and PRL secreting pituitary adenomas. (2279883)
1990
46
Treatment of generalized lichen nitidus with PUVA. (3721671)
1986
47
Induction of persistent infection in mice and oncogenic transformation of mouse macrophages with infectious bovine rhinotracheitis virus. (6266290)
1981
48
Hyperkalemia and hyporeninemic hypoaldosteronism. (6990088)
1980

Variations for Mitochondrial Complex I Deficiency

About this section

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

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

Pathways for genes affiliated with Mitochondrial Complex I Deficiency

About this section

GO Terms for genes affiliated with Mitochondrial Complex I Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial 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

About this section
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