MC1DN1
MCID: MTC146
MIFTS: 52

Mitochondrial Complex I Deficiency, Nuclear Type 1 (MC1DN1)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 1

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 1:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 1 58 76 30 6
Mitochondrial Complex I Deficiency 58 12 54 26 76 38 30 56 6 45 15
Nadh:q(1) Oxidoreductase Deficiency 58 54 26 76
Nadh-Coenzyme Q Reductase Deficiency 58 26 76
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 58 54
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 12 54
Isolated Nadh-Coenzyme Q Reductase Deficiency 12 54
Isolated Nadh-Ubiquinone Reductase Deficiency 12 54
Isolated Nadh-Coq Reductase Deficiency 12 54
Mc1dn1 58 76
Deficiency of Mitochondrial Nadh Dehydrogenase Component of Complex I 76
Complex I, Mitochondrial Respiratory Chain, Deficiency of 13
Complex 1 Mitochondrial Respiratory Chain Deficiency 54
Complex I Mitochondrial Respiratory Chain Deficiency 76
Nadh:ubiquinone Oxidoreductase Deficiency 76
Nadh Coenzyme Q Reductase Deficiency 54
Deficiency, Mitochondrial Complex I 41
Isolated Complex I Deficiency 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy
early death may occur


HPO:

33
mitochondrial complex i deficiency, nuclear type 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance x-linked dominant inheritance mitochondrial inheritance


Classifications:



Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 1

NIH Rare Diseases : 54 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 helpful in some case but 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, Nuclear Type 1, also known as mitochondrial complex i deficiency, is related to leigh syndrome and mitochondrial complex i deficiency, nuclear type 20. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 1 is NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4), and among its related pathways/superpathways are Oxidative phosphorylation and Metabolism. Affiliated tissues include liver, eye and skeletal muscle, and related phenotypes are abnormal mitochondria in muscle tissue and ptosis

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 : 26 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 : 58 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 (see 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 : 76 Mitochondrial complex I deficiency, nuclear type 1: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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, Nuclear Type 1

Diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 30.7 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11 NDUFAF4
2 mitochondrial complex i deficiency, nuclear type 20 12.8
3 mitochondrial complex i deficiency, nuclear type 2 12.8
4 mitochondrial complex i deficiency, nuclear type 4 12.8
5 mitochondrial complex i deficiency, nuclear type 8 12.8
6 mitochondrial complex i deficiency, nuclear type 9 12.8
7 mitochondrial complex i deficiency, nuclear type 14 12.8
8 mitochondrial complex i deficiency, nuclear type 25 12.8
9 mitochondrial complex i deficiency, mitochondrial type 1 12.8
10 mitochondrial complex i deficiency, nuclear type 27 12.8
11 mitochondrial complex i deficiency, nuclear type 32 12.8
12 mitochondrial complex i deficiency, nuclear type 33 12.8
13 mitochondrial complex i deficiency, nuclear type 12 12.7
14 mitochondrial complex i deficiency, nuclear type 30 12.7
15 mitochondrial complex i deficiency, nuclear type 6 12.7
16 mitochondrial complex i deficiency, nuclear type 7 12.7
17 mitochondrial complex i deficiency, nuclear type 10 12.7
18 mitochondrial complex i deficiency, nuclear type 11 12.7
19 mitochondrial complex i deficiency, nuclear type 13 12.7
20 mitochondrial complex i deficiency, nuclear type 15 12.7
21 mitochondrial complex i deficiency, nuclear type 16 12.7
22 mitochondrial complex i deficiency, nuclear type 17 12.7
23 mitochondrial complex i deficiency, nuclear type 18 12.7
24 mitochondrial complex i deficiency, nuclear type 21 12.7
25 mitochondrial complex i deficiency, nuclear type 22 12.7
26 mitochondrial complex i deficiency, nuclear type 23 12.7
27 mitochondrial complex i deficiency, nuclear type 24 12.7
28 mitochondrial complex i deficiency, nuclear type 26 12.7
29 mitochondrial complex i deficiency, nuclear type 28 12.7
30 mitochondrial complex i deficiency, nuclear type 29 12.7
31 mitochondrial complex i deficiency, nuclear type 31 12.7
32 mitochondrial complex i deficiency, nuclear type 19 12.7
33 mitochondrial complex v deficiency, nuclear type 1 12.3
34 mitochondrial complex iii deficiency, nuclear type 1 12.1
35 nephronophthisis-like nephropathy 1 11.2
36 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.3
37 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.3
38 deafness, nonsyndromic sensorineural, mitochondrial 10.2 MT-ND2 MT-ND4
39 mitochondrial myopathy 10.1 MT-ND2 MT-ND4 NDUFV1
40 exposure keratitis 10.1 MT-ND4 NDUFA1
41 leber optic atrophy 10.0 MT-ND2 MT-ND4
42 lactic acidosis 10.0
43 mitochondrial encephalomyopathy 9.9 ACAD9 MT-ND2 MT-ND4 NDUFA1
44 amyotrophic lateral sclerosis 1 9.8
45 neurofibromatosis, type i 9.8
46 neurofibromatosis, type iv, of riccardi 9.8
47 optic nerve hypoplasia, bilateral 9.8
48 schizophrenia 9.8
49 triiodothyronine receptor auxiliary protein 9.8
50 mitochondrial dna depletion syndrome 9 9.8

Graphical network of the top 20 diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 1:



Diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 1

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 1

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 1:

33 (show all 43)
# Description HPO Frequency HPO Source Accession
1 abnormal mitochondria in muscle tissue 33 hallmark (90%) HP:0008316
2 ptosis 33 HP:0000508
3 nystagmus 33 HP:0000639
4 seizures 33 HP:0001250
5 ataxia 33 HP:0001251
6 muscular hypotonia 33 HP:0001252
7 spasticity 33 HP:0001257
8 hyperreflexia 33 HP:0001347
9 failure to thrive 33 HP:0001508
10 respiratory insufficiency 33 HP:0002093
11 developmental regression 33 HP:0002376
12 global developmental delay 33 HP:0001263
13 dyskinesia 33 HP:0100660
14 sensorineural hearing impairment 33 HP:0000407
15 blindness 33 HP:0000618
16 feeding difficulties in infancy 33 HP:0008872
17 vomiting 33 HP:0002013
18 hypertrophic cardiomyopathy 33 HP:0001639
19 hypoglycemia 33 HP:0001943
20 skeletal muscle atrophy 33 HP:0003202
21 strabismus 33 HP:0000486
22 growth delay 33 HP:0001510
23 babinski sign 33 HP:0003487
24 lactic acidosis 33 HP:0003128
25 respiratory failure 33 HP:0002878
26 hepatic failure 33 HP:0001399
27 coma 33 HP:0001259
28 optic neuropathy 33 HP:0001138
29 hyporeflexia 33 HP:0001265
30 lethargy 33 HP:0001254
31 optic disc pallor 33 HP:0000543
32 cerebellar atrophy 33 HP:0001272
33 generalized hypotonia 33 HP:0001290
34 exercise intolerance 33 HP:0003546
35 leukodystrophy 33 HP:0002415
36 poor head control 33 HP:0002421
37 increased csf lactate 33 HP:0002490
38 decreased activity of mitochondrial respiratory chain 33 HP:0008972
39 cerebral edema 33 HP:0002181
40 leukoencephalopathy 33 HP:0002352
41 progressive macrocephaly 33 HP:0004481
42 poor eye contact 33 HP:0000817
43 acute necrotizing encephalopathy 33 HP:0006965

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
blindness
strabismus
optic neuropathy
more
Muscle Soft Tissue:
muscle weakness
hypotonia

Respiratory:
respiratory insufficiency
respiratory failure

Abdomen Gastrointestinal:
vomiting
poor feeding

Metabolic Features:
hypoglycemia
lactic acidosis

Head And Neck Ears:
auditory neuropathy
sensorineural deafness

Neurologic Central Nervous System:
seizures
ataxia
hyporeflexia
lethargy
cerebellar atrophy
more
Growth Other:
failure to thrive
growth retardation

Abdomen Liver:
hepatomegaly

Cardiovascular Heart:
hypertrophic cardiomyopathy

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

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM:

252010

GenomeRNAi Phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

27 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.41 NDUFA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.41 NDUFA11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.41 NDUFA1 NDUFS1 NDUFV1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.41 NDUFA11 NDUFS1 NDUFV1 ACAD9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.41 NDUFS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.41 NDUFA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.41 NDUFA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.41 NDUFS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.41 ACAD9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.41 NDUFA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.41 NDUFS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.41 NDUFA11
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.41 NDUFS1 TMEM126B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.41 NDUFA11 NDUFS1 NDUFV1 ACAD9 TMEM126B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.41 NDUFA11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.41 ACAD9
17 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.41 NDUFV1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.41 NDUFS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.41 ACAD9
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.41 ACAD9
21 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.41 NDUFA1 NDUFA11 NDUFS1 NDUFV1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.41 NDUFV1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.41 ACAD9
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.97 ACAD9
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.97 NDUFS1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.97 ACAD9 NDUFA11 NDUFS1 NDUFV1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.97 NDUFA11
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.97 NDUFS1 NDUFV1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.97 ACAD9 NDUFS1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.97 NDUFV1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.97 NDUFA11
32 no effect GR00402-S-1 9.92 ACAD9 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11
33 Decreased shRNA abundance GR00297-A 9.8 ACAD9 NDUFA1 NDUFA11 NDUFA13 NDUFS1 NDUFS5

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 1

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 1

Cochrane evidence based reviews: mitochondrial complex i deficiency

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 1

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 1:

# Genetic test Affiliating Genes
1 Mitochondrial Complex I Deficiency 30
2 Mitochondrial Complex I Deficiency, Nuclear Type 1 30 NDUFS4

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 1

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 1:

42
Liver, Eye, Skeletal Muscle, Temporal Lobe, Brain, Heart

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 1

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 1:

(show top 50) (show all 78)
# Title Authors Year
1
Mitochondrial complex I deficiency and cardiovascular diseases: current evidence and future directions. ( 30863992 )
2019
2
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. ( 30972103 )
2019
3
Mitochondrial Complex I Deficiency in Schizophrenia and Bipolar Disorder and Medication Influence. ( 29594135 )
2018
4
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant. ( 29395179 )
2018
5
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. ( 29429571 )
2018
6
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. ( 29976978 )
2018
7
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. ( 30245030 )
2018
8
Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice. ( 28533980 )
2017
9
Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 28919908 )
2017
10
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. ( 29142257 )
2017
11
Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 29285026 )
2017
12
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. ( 24963768 )
2016
13
Dementia in Parkinson's disease is associated with enhanced mitochondrial complex I deficiency. ( 26853899 )
2016
14
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. ( 27126960 )
2016
15
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. ( 27502960 )
2016
16
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. ( 25418441 )
2015
17
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. ( 25652399 )
2015
18
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. ( 26024641 )
2015
19
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. ( 26134164 )
2015
20
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. ( 26345448 )
2015
21
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. ( 24711935 )
2014
22
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. ( 24476218 )
2014
23
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. ( 24522811 )
2014
24
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. ( 24895128 )
2014
25
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. ( 24020637 )
2014
26
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome. ( 24386581 )
2013
27
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. ( 23266820 )
2013
28
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. ( 23378164 )
2013
29
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. ( 23836946 )
2013
30
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. ( 23931755 )
2013
31
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. ( 22474353 )
2012
32
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. ( 20346082 )
2012
33
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. ( 21757032 )
2012
34
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. ( 22036961 )
2012
35
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. ( 22099533 )
2012
36
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. ( 22142868 )
2012
37
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. ( 22450425 )
2012
38
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. ( 22499348 )
2012
39
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. ( 20107904 )
2011
40
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. ( 21458341 )
2011
41
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. ( 22188452 )
2011
42
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. ( 21596602 )
2011
43
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). ( 19089472 )
2009
44
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. ( 19336460 )
2009
45
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. ( 19185523 )
2009
46
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. ( 19107570 )
2008
47
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. ( 18306244 )
2008
48
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. ( 18396137 )
2008
49
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. ( 18791645 )
2008
50
C6ORF66 is an assembly factor of mitochondrial complex I. ( 18179882 )
2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 1

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 1:

76
# Symbol AA change Variation ID SNP ID
1 NDUFS4 p.Asp119His VAR_078946 rs747359752

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 1:

6 (show top 50) (show all 1042)
# Gene Variation Type Significance SNP ID Assembly Location
1 NUBPL NM_025152.2(NUBPL): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs200401432 GRCh37 Chromosome 14, 32031331: 32031331
2 NUBPL NM_025152.2(NUBPL): c.166G> A (p.Gly56Arg) single nucleotide variant Uncertain significance rs200401432 GRCh38 Chromosome 14, 31562125: 31562125
3 NDUFAF4 NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs63751061 GRCh37 Chromosome 6, 97344666: 97344666
4 NDUFAF4 NM_014165.3(NDUFAF4): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs63751061 GRCh38 Chromosome 6, 96896790: 96896790
5 NDUFS4 NM_002495.3(NDUFS4): c.466_470dup (p.Lys158Serfs) duplication Pathogenic GRCh37 Chromosome 5, 52978989: 52978993
6 NDUFS4 NM_002495.3(NDUFS4): c.466_470dup (p.Lys158Serfs) duplication Pathogenic GRCh38 Chromosome 5, 53683159: 53683163
7 NDUFS4 NM_002495.2(NDUFS4): c.291delG (p.Trp97Terfs) deletion Pathogenic rs121908985 GRCh37 Chromosome 5, 52942176: 52942176
8 NDUFS4 NM_002495.2(NDUFS4): c.291delG (p.Trp97Terfs) deletion Pathogenic rs121908985 GRCh38 Chromosome 5, 53646346: 53646346
9 NDUFS4 NM_002495.3(NDUFS4): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs104893898 GRCh37 Chromosome 5, 52942201: 52942201
10 NDUFS4 NM_002495.3(NDUFS4): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs104893898 GRCh38 Chromosome 5, 53646371: 53646371
11 NDUFS4 NM_002495.3(NDUFS4): c.44G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs104893899 GRCh37 Chromosome 5, 52856536: 52856536
12 NDUFS4 NM_002495.3(NDUFS4): c.44G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs104893899 GRCh38 Chromosome 5, 53560706: 53560706
13 NDUFV2 NM_021074.4(NDUFV2): c.86T> C (p.Val29Ala) single nucleotide variant Benign rs906807 GRCh37 Chromosome 18, 9117867: 9117867
14 NDUFV2 NM_021074.4(NDUFV2): c.86T> C (p.Val29Ala) single nucleotide variant Benign rs906807 GRCh38 Chromosome 18, 9117869: 9117869
15 MT-ND4 m.11777C> A single nucleotide variant Pathogenic rs28384199 GRCh37 Chromosome MT, 11777: 11777
16 MT-ND4 m.11777C> A single nucleotide variant Pathogenic rs28384199 GRCh38 Chromosome MT, 11777: 11777
17 MT-ND2 m.5132_5133delAA deletion Pathogenic rs199476116 GRCh37 Chromosome MT, 5132: 5133
18 MT-ND2 m.5132_5133delAA deletion Pathogenic rs199476116 GRCh38 Chromosome MT, 5132: 5133
19 MT-ND2 m.4810G> A single nucleotide variant Pathogenic rs267606888 GRCh37 Chromosome MT, 4810: 4810
20 MT-ND2 m.4810G> A single nucleotide variant Pathogenic rs267606888 GRCh38 Chromosome MT, 4810: 4810
21 NDUFV1 NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913659 GRCh37 Chromosome 11, 67379696: 67379696
22 NDUFV1 NM_007103.3(NDUFV1): c.1268C> T (p.Thr423Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913659 GRCh38 Chromosome 11, 67612225: 67612225
23 NDUFV1 NM_007103.3(NDUFV1): c.1022C> T (p.Ala341Val) single nucleotide variant Uncertain significance rs121913660 GRCh37 Chromosome 11, 67378982: 67378982
24 NDUFV1 NM_007103.3(NDUFV1): c.1022C> T (p.Ala341Val) single nucleotide variant Uncertain significance rs121913660 GRCh38 Chromosome 11, 67611511: 67611511
25 GAMT; NDUFS7 NM_000156.5(GAMT): c.626C> T (p.Thr209Met) single nucleotide variant Benign/Likely benign rs17851582 GRCh37 Chromosome 19, 1397443: 1397443
26 GAMT; NDUFS7 NM_000156.5(GAMT): c.626C> T (p.Thr209Met) single nucleotide variant Benign/Likely benign rs17851582 GRCh38 Chromosome 19, 1397444: 1397444
27 NDUFA1 NM_004541.3(NDUFA1): c.94G> C (p.Gly32Arg) single nucleotide variant Benign rs1801316 GRCh37 Chromosome X, 119005968: 119005968
28 NDUFA1 NM_004541.3(NDUFA1): c.94G> C (p.Gly32Arg) single nucleotide variant Benign rs1801316 GRCh38 Chromosome X, 119872005: 119872005
29 NDUFS4 NM_002495.3(NDUFS4): c.462delA (p.Lys154Asnfs) deletion Pathogenic rs587776949 GRCh38 Chromosome 5, 53683155: 53683155
30 NDUFS4 NM_002495.3(NDUFS4): c.462delA (p.Lys154Asnfs) deletion Pathogenic rs587776949 GRCh37 Chromosome 5, 52978985: 52978985
31 NUBPL NM_025152.2(NUBPL): c.815-27T> C single nucleotide variant Conflicting interpretations of pathogenicity rs118161496 GRCh37 Chromosome 14, 32319298: 32319298
32 NUBPL NM_025152.2(NUBPL): c.815-27T> C single nucleotide variant Conflicting interpretations of pathogenicity rs118161496 GRCh38 Chromosome 14, 31850092: 31850092
33 FOXRED1 NM_017547.3(FOXRED1): c.612_615dupAGTG (p.Ala206Serfs) duplication Pathogenic/Likely pathogenic rs398124308 GRCh37 Chromosome 11, 126144897: 126144900
34 FOXRED1 NM_017547.3(FOXRED1): c.612_615dupAGTG (p.Ala206Serfs) duplication Pathogenic/Likely pathogenic rs398124308 GRCh38 Chromosome 11, 126275002: 126275005
35 FOXRED1 NM_017547.3(FOXRED1): c.124A> C (p.Lys42Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148346044 GRCh37 Chromosome 11, 126141370: 126141370
36 FOXRED1 NM_017547.3(FOXRED1): c.124A> C (p.Lys42Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148346044 GRCh38 Chromosome 11, 126271475: 126271475
37 GAMT; NDUFS7 NM_000156.5(GAMT): c.571-6G> A single nucleotide variant Benign/Likely benign rs2074899 GRCh37 Chromosome 19, 1397504: 1397504
38 GAMT; NDUFS7 NM_000156.5(GAMT): c.571-6G> A single nucleotide variant Benign/Likely benign rs2074899 GRCh38 Chromosome 19, 1397505: 1397505
39 NDUFA10 NM_004544.3(NDUFA10): c.105A> G (p.Lys35=) single nucleotide variant Likely benign rs2083411 GRCh37 Chromosome 2, 240961728: 240961728
40 NDUFA10 NM_004544.3(NDUFA10): c.105A> G (p.Lys35=) single nucleotide variant Likely benign rs2083411 GRCh38 Chromosome 2, 240022311: 240022311
41 NDUFA10 NM_004544.3(NDUFA10): c.771A> G (p.Gln257=) single nucleotide variant Likely benign rs13848 GRCh37 Chromosome 2, 240946766: 240946766
42 NDUFA10 NM_004544.3(NDUFA10): c.771A> G (p.Gln257=) single nucleotide variant Likely benign rs13848 GRCh38 Chromosome 2, 240007349: 240007349
43 NDUFAF1 NM_016013.3(NDUFAF1): c.26G> A (p.Arg9His) single nucleotide variant Likely benign rs1899 GRCh37 Chromosome 15, 41689232: 41689232
44 NDUFAF1 NM_016013.3(NDUFAF1): c.26G> A (p.Arg9His) single nucleotide variant Likely benign rs1899 GRCh38 Chromosome 15, 41397034: 41397034
45 NDUFAF1 NM_016013.3(NDUFAF1): c.92G> T (p.Arg31Leu) single nucleotide variant Likely benign rs3204853 GRCh37 Chromosome 15, 41689166: 41689166
46 NDUFAF1 NM_016013.3(NDUFAF1): c.92G> T (p.Arg31Leu) single nucleotide variant Likely benign rs3204853 GRCh38 Chromosome 15, 41396968: 41396968
47 NDUFAF1 NM_016013.3(NDUFAF1): c.941C> G (p.Ala314Gly) single nucleotide variant Likely benign rs12900702 GRCh37 Chromosome 15, 41679685: 41679685
48 NDUFAF1 NM_016013.3(NDUFAF1): c.941C> G (p.Ala314Gly) single nucleotide variant Likely benign rs12900702 GRCh38 Chromosome 15, 41387487: 41387487
49 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.60G> A (p.Lys20=) single nucleotide variant Benign rs158921 GRCh37 Chromosome 5, 60241142: 60241142
50 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.60G> A (p.Lys20=) single nucleotide variant Benign rs158921 GRCh38 Chromosome 5, 60945315: 60945315

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 1

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 1.

Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 1

Pathways related to Mitochondrial Complex I Deficiency, Nuclear Type 1 according to KEGG:

38
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 1

Cellular components related to Mitochondrial Complex I Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.8 ACAD9 MT-ND4 NDUFA1 NDUFA13 NDUFAF4 TMEM126B
2 mitochondrial respiratory chain complex I GO:0005747 9.8 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11 NDUFA13
3 respiratory chain GO:0070469 9.44 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11 NDUFA13
4 membrane GO:0016020 10.3 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11 NDUFA13
5 mitochondrial inner membrane GO:0005743 10.23 ACAD9 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11
6 mitochondrion GO:0005739 10.09 ACAD9 FOXRED1 MT-ND4 NDUFA1 NDUFA11 NDUFA13

Biological processes related to Mitochondrial Complex I Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.83 ACAD9 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11
2 reactive oxygen species metabolic process GO:0072593 9.56 MT-ND2 NDUFA13 NDUFS1 NDUFS4
3 cellular respiration GO:0045333 9.4 NDUFS1 NDUFS4
4 mitochondrion morphogenesis GO:0070584 9.37 NDUFS6 NUBPL
5 ATP synthesis coupled electron transport GO:0042773 9.32 MT-ND4 NDUFS1
6 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.32 MT-ND2 MT-ND4 NDUFA1 NDUFAF1 NDUFB3 NDUFS1
7 mitochondrial respiratory chain complex I assembly GO:0032981 10.16 ACAD9 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11

Molecular functions related to Mitochondrial Complex I Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 ACAD9 FOXRED1 MT-ND2 NDUFAF5 NDUFS1 NDUFV1
2 iron-sulfur cluster binding GO:0051536 9.54 NDUFS1 NDUFV1 NUBPL
3 4 iron, 4 sulfur cluster binding GO:0051539 9.5 NDUFS1 NDUFV1 NUBPL
4 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.33 NDUFS1 NDUFS4 NDUFV1
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.32 MT-ND2 MT-ND4 NDUFA1 NDUFA13 NDUFB3 NDUFS1
6 NADH dehydrogenase activity GO:0003954 9.13 MT-ND4 NDUFA13 NDUFS1

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
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65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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