MT-C1D
MCID: MTC146
MIFTS: 56

Mitochondrial Complex I Deficiency, Nuclear Type 1 (MT-C1D)

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 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
Complex 1 Mitochondrial Respiratory Chain Deficiency 54 76
Isolated Nadh-Coenzyme Q Reductase Deficiency 12 54
Isolated Nadh-Ubiquinone Reductase Deficiency 12 54
Isolated Nadh-Coq Reductase Deficiency 12 54
Mitochondrial Nadh Dehydrogenase Component of Complex I Deficiency 76
Complex I, Mitochondrial Respiratory Chain, Deficiency of 13
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
Mc1dn1 58
Mt-C1d 76

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 phenotypic variability
Inheritance autosomal recessive inheritance mitochondrial inheritance x-linked dominant 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 sometimes effective and may include metabolic therapies such as riboflavin, thiamine, biotin, co-enzyme Q10, carnitine, and a ketogenic diet (a special high-fat, low-carbohydrate diet).

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 1, also known as mitochondrial complex i deficiency, is related to leigh syndrome and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including seizures, ataxia and muscle weakness. 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: 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, 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 78)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 31.4 FOXRED1 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.7 MT-ND1 MT-ND4 MT-ND6
3 lactic acidosis 30.2 MT-ND1 MT-ND4 MT-ND6
4 mitochondrial complex i deficiency, nuclear type 20 12.7
5 mitochondrial complex i deficiency, nuclear type 12 12.4
6 mitochondrial complex i deficiency, nuclear type 30 12.4
7 mitochondrial complex i deficiency, mitochondrial type 1 12.4
8 mitochondrial complex i deficiency, nuclear type 2 12.4
9 mitochondrial complex i deficiency, nuclear type 4 12.4
10 mitochondrial complex i deficiency, nuclear type 6 12.4
11 mitochondrial complex i deficiency, nuclear type 7 12.4
12 mitochondrial complex i deficiency, nuclear type 8 12.4
13 mitochondrial complex i deficiency, nuclear type 9 12.4
14 mitochondrial complex i deficiency, nuclear type 10 12.4
15 mitochondrial complex i deficiency, nuclear type 11 12.4
16 mitochondrial complex i deficiency, nuclear type 13 12.4
17 mitochondrial complex i deficiency, nuclear type 14 12.4
18 mitochondrial complex i deficiency, nuclear type 15 12.4
19 mitochondrial complex i deficiency, nuclear type 16 12.4
20 mitochondrial complex i deficiency, nuclear type 17 12.4
21 mitochondrial complex i deficiency, nuclear type 18 12.4
22 mitochondrial complex i deficiency, nuclear type 19 12.4
23 mitochondrial complex i deficiency, nuclear type 21 12.4
24 mitochondrial complex i deficiency, nuclear type 22 12.4
25 mitochondrial complex i deficiency, nuclear type 23 12.4
26 mitochondrial complex i deficiency, nuclear type 24 12.4
27 mitochondrial complex i deficiency, nuclear type 25 12.4
28 mitochondrial complex i deficiency, nuclear type 26 12.4
29 mitochondrial complex i deficiency, nuclear type 27 12.4
30 mitochondrial complex i deficiency, nuclear type 28 12.4
31 mitochondrial complex i deficiency, nuclear type 29 12.4
32 mitochondrial complex i deficiency, nuclear type 31 12.4
33 mitochondrial complex i deficiency, nuclear type 32 12.4
34 mitochondrial complex i deficiency, nuclear type 33 12.4
35 mitochondrial complex iii deficiency, nuclear type 1 11.5
36 mitochondrial complex v deficiency, nuclear type 1 11.5
37 nephronophthisis-like nephropathy 1 11.2
38 leber optic atrophy and dystonia 10.3 MT-ND1 MT-ND4 MT-ND6
39 deafness, nonsyndromic sensorineural, mitochondrial 10.3 MT-ND1 MT-ND2 MT-ND4
40 rubeosis iridis 10.3 NDUFS4 NDUFS7
41 leber optic atrophy 10.2 MT-ND1 MT-ND2 MT-ND4 MT-ND6
42 cranial nerve disease 10.2 MT-ND1 MT-ND4 MT-ND6
43 alzheimer disease mitochondrial 10.2 MT-ND1 MT-ND2
44 kearns-sayre syndrome 10.2 MT-ND1 MT-ND2 MT-ND4 MT-ND6
45 optic nerve disease 10.2 MT-ND1 MT-ND4 MT-ND6 NDUFA1
46 mitochondrial myopathy 10.2 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFV1
47 mitochondrial encephalomyopathy 10.2 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1
48 exposure keratitis 10.1 MT-ND4 NDUFA1
49 leigh syndrome with leukodystrophy 9.9 FOXRED1 NDUFA13 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2
50 amyotrophic lateral sclerosis 1 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 42)
# 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 muscle weakness 33 HP:0001324
9 hyperreflexia 33 HP:0001347
10 failure to thrive 33 HP:0001508
11 respiratory insufficiency 33 HP:0002093
12 developmental regression 33 HP:0002376
13 global developmental delay 33 HP:0001263
14 dyskinesia 33 HP:0100660
15 sensorineural hearing impairment 33 HP:0000407
16 blindness 33 HP:0000618
17 feeding difficulties in infancy 33 HP:0008872
18 vomiting 33 HP:0002013
19 hypertrophic cardiomyopathy 33 HP:0001639
20 hypoglycemia 33 HP:0001943
21 skeletal muscle atrophy 33 HP:0003202
22 strabismus 33 HP:0000486
23 growth delay 33 HP:0001510
24 babinski sign 33 HP:0003487
25 lactic acidosis 33 HP:0003128
26 respiratory failure 33 HP:0002878
27 coma 33 HP:0001259
28 optic neuropathy 33 HP:0001138
29 hyporeflexia 33 HP:0001265
30 hepatic failure 33 HP:0001399
31 lethargy 33 HP:0001254
32 optic disc pallor 33 HP:0000543
33 cerebellar atrophy 33 HP:0001272
34 cerebral edema 33 HP:0002181
35 generalized hypotonia 33 HP:0001290
36 exercise intolerance 33 HP:0003546
37 leukodystrophy 33 HP:0002415
38 increased csf lactate 33 HP:0002490
39 decreased activity of mitochondrial respiratory chain 33 HP:0008972
40 progressive macrocephaly 33 HP:0004481
41 leukoencephalopathy 33 HP:0002352
42 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

UMLS symptoms related to Mitochondrial Complex I Deficiency, Nuclear Type 1:


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

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

27 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.07 NDUFS7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.07 NDUFA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.07 NDUFA1 NDUFS1 NDUFS7 NDUFV1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.07 NDUFS1 NDUFS7 NDUFV1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.07 NDUFS1 NDUFS7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.07 NDUFA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.07 NDUFA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.07 NDUFS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.07 NDUFA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.07 NDUFS1 NDUFS7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.07 NDUFS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.07 NDUFS1 NDUFV1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.07 NDUFS7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.07 NDUFV1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.07 NDUFS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.07 NDUFA1 NDUFS1 NDUFS7 NDUFV1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.07 NDUFV1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.65 NDUFS7
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.65 NDUFS1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.65 NDUFS1 NDUFS7 NDUFV1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.65 NDUFS1 NDUFS7 NDUFV1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.65 NDUFS1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.65 NDUFV1
24 Decreased shRNA abundance GR00297-A 9.63 NDUFA1 NDUFA13 NDUFS1 NDUFS2 NDUFS7 NDUFV1

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

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, Brain, Heart, Temporal Lobe

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 1

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

(show top 50) (show all 60)
# Title Authors Year
1
Mitochondrial complex I deficiency and cardiovascular diseases: current evidence and future directions. ( 30863992 )
2019
2
Mitochondrial Complex I Deficiency in Schizophrenia and Bipolar Disorder and Medication Influence. ( 29594135 )
2018
3
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. ( 29429571 )
2018
4
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant. ( 29395179 )
2018
5
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. ( 29976978 )
2018
6
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. ( 30245030 )
2018
7
Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 29285026 )
2017
8
Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. ( 28919908 )
2017
9
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. ( 29142257 )
2017
10
Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice. ( 28533980 )
2017
11
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. ( 27502960 )
2016
12
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. ( 27126960 )
2016
13
Dementia in Parkinson's disease is associated with enhanced mitochondrial complex I deficiency. ( 26853899 )
2016
14
Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse. ( 25652399 )
2015
15
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. ( 26024641 )
2015
16
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. ( 25418441 )
2015
17
Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex I. ( 26134164 )
2015
18
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. ( 24522811 )
2014
19
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. ( 24963768 )
2014
20
D-galactose induces a mitochondrial complex I deficiency in mouse skeletal muscle: potential benefits of nutrient combination in ameliorating muscle impairment. ( 24476218 )
2014
21
Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation. ( 24895128 )
2014
22
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. ( 24711935 )
2014
23
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. ( 23266820 )
2013
24
Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency. ( 23836946 )
2013
25
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure. ( 23931755 )
2013
26
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. ( 23378164 )
2013
27
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-DebrAc-Fanconi Syndrome. ( 24386581 )
2013
28
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency. ( 20346082 )
2012
29
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. ( 21757032 )
2012
30
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. ( 22142868 )
2012
31
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. ( 22036961 )
2012
32
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. ( 22474353 )
2012
33
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. ( 22099533 )
2012
34
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. ( 22450425 )
2012
35
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. ( 22499348 )
2012
36
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. ( 20107904 )
2011
37
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters. ( 22188452 )
2011
38
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. ( 21458341 )
2011
39
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). ( 19089472 )
2009
40
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. ( 19336460 )
2009
41
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. ( 18396137 )
2008
42
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. ( 18306244 )
2008
43
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. ( 18791645 )
2008
44
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency. ( 17985265 )
2007
45
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. ( 15824269 )
2005
46
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. ( 15372108 )
2004
47
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. ( 12690563 )
2003
48
Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. ( 11743516 )
2001
49
Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. ( 11079540 )
2000
50
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. ( 10669207 )
2000

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 1

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

76 (show all 38)
# Symbol AA change Variation ID SNP ID
1 FOXRED1 p.Asn430Ser VAR_064571 rs267606830
2 FOXRED1 p.Arg352Trp VAR_073273 rs387907087
3 MT-ND1 p.Glu214Lys VAR_073352 rs199476123
4 MT-ND3 p.Ser45Pro VAR_035091 rs267606890
5 MT-ND3 p.Ala47Thr VAR_035092 rs267606891
6 MT-ND3 p.Ser34Pro VAR_064564 rs199476117
7 MT-ND5 p.Phe124Leu VAR_035424 rs267606893
8 MT-ND5 p.Ala236Thr VAR_035427 rs267606898
9 MT-ND5 p.Met237Leu VAR_035428 rs267606895
10 MT-ND5 p.Asp393Asn VAR_035430 rs267606897
11 MT-ND5 p.Val253Ala VAR_064566
12 MT-ND6 p.Ala72Val VAR_004764 rs199476105
13 MT-ND6 p.Met63Val VAR_064568 rs199476109
14 NDUFA1 p.Gly8Arg VAR_035099 rs104894884
15 NDUFA1 p.Arg37Ser VAR_035100 rs104894885
16 NDUFAF3 p.Gly77Arg VAR_058491 rs121918134
17 NDUFAF3 p.Arg122Pro VAR_058492 rs121918135
18 NDUFAF4 p.Leu65Pro VAR_044329 rs63751061
19 NDUFAF5 p.Leu229Pro VAR_054119 rs118203929
20 NDUFAF6 p.Gln99Arg VAR_047770 rs137853184
21 NDUFAF6 p.Asp69Val VAR_076272 rs105751908
22 NDUFAF6 p.Ser76Pro VAR_076273 rs105751908
23 NDUFAF6 p.Ile124Thr VAR_076274 rs201732170
24 NDUFAF6 p.His269Asp VAR_076275 rs768273248
25 NDUFAF6 p.Arg274Gly VAR_076276 rs105751908
26 NDUFB11 p.Glu121Lys VAR_076277 rs105751907
27 NDUFB3 p.Trp22Arg VAR_078939 rs142609245
28 NDUFS1 p.Arg241Trp VAR_019532 rs199422225
29 NDUFS1 p.Asp252Gly VAR_019533 rs199422224
30 NDUFS2 p.Arg228Gln VAR_019535 rs121434427
31 NDUFS2 p.Pro229Gln VAR_019536 rs121434428
32 NDUFS2 p.Ser413Pro VAR_019537 rs121434429
33 NDUFS6 p.Cys115Tyr VAR_078947 rs267606913
34 NDUFS7 p.Val122Met VAR_008848 rs104894705
35 NDUFV1 p.Ala341Val VAR_008846 rs121913660
36 NDUFV1 p.Glu214Lys VAR_019534 rs121913661
37 NUBPL p.Asp105Tyr VAR_069767 rs397515440
38 NUBPL p.Leu193Phe VAR_069768 rs552722349

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

6 (show top 50) (show all 1026)
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF3 NM_199069.1(NDUFAF3): c.180_181insT (p.Asp61Terfs) insertion Conflicting interpretations of pathogenicity rs752864722 GRCh38 Chromosome 3, 49022448: 49022449
2 NDUFAF3 NM_199069.1(NDUFAF3): c.180_181insT (p.Asp61Terfs) insertion Conflicting interpretations of pathogenicity rs752864722 GRCh37 Chromosome 3, 49059881: 49059882
3 NUBPL NM_025152.2(NUBPL): c.311T> C (p.Leu104Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201430951 GRCh37 Chromosome 14, 32068514: 32068514
4 NUBPL NM_025152.2(NUBPL): c.311T> C (p.Leu104Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201430951 GRCh38 Chromosome 14, 31599308: 31599308
5 AMACR NM_014324.5(AMACR): c.844G> C (p.Glu282Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs181341030 GRCh38 Chromosome 5, 33989398: 33989398
6 AMACR NM_014324.5(AMACR): c.844G> C (p.Glu282Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs181341030 GRCh37 Chromosome 5, 33989503: 33989503
7 NDUFS2 NM_004550.4(NDUFS2): c.959T> C (p.Val320Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144937332 GRCh37 Chromosome 1, 161180473: 161180473
8 NDUFS2 NM_004550.4(NDUFS2): c.959T> C (p.Val320Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144937332 GRCh38 Chromosome 1, 161210683: 161210683
9 NDUFS2 NM_004550.4(NDUFS2): c.1212G> A (p.Lys404=) single nucleotide variant Uncertain significance rs145959971 GRCh37 Chromosome 1, 161183265: 161183265
10 NDUFS2 NM_004550.4(NDUFS2): c.1212G> A (p.Lys404=) single nucleotide variant Uncertain significance rs145959971 GRCh38 Chromosome 1, 161213475: 161213475
11 NDUFA10 NM_004544.3(NDUFA10): c.1000-3C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199648872 GRCh37 Chromosome 2, 240900606: 240900606
12 NDUFA10 NM_004544.3(NDUFA10): c.1000-3C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199648872 GRCh38 Chromosome 2, 239961189: 239961189
13 NDUFA10 NM_004544.3(NDUFA10): c.1000-5delC deletion Benign/Likely benign rs138479490 GRCh38 Chromosome 2, 239961191: 239961191
14 NDUFA10 NM_004544.3(NDUFA10): c.1000-5delC deletion Benign/Likely benign rs138479490 GRCh37 Chromosome 2, 240900608: 240900608
15 NDUFS4 NM_002495.3(NDUFS4): c.13T> C (p.Ser5Pro) single nucleotide variant Uncertain significance rs149323691 GRCh37 Chromosome 5, 52856505: 52856505
16 NDUFS4 NM_002495.3(NDUFS4): c.13T> C (p.Ser5Pro) single nucleotide variant Uncertain significance rs149323691 GRCh38 Chromosome 5, 53560675: 53560675
17 FOXRED1 NM_017547.3(FOXRED1): c.-31A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368307265 GRCh38 Chromosome 11, 126269176: 126269176
18 FOXRED1 NM_017547.3(FOXRED1): c.-31A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368307265 GRCh37 Chromosome 11, 126139071: 126139071
19 FOXRED1 NM_017547.3(FOXRED1): c.10A> G (p.Arg4Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs149883459 GRCh38 Chromosome 11, 126269216: 126269216
20 FOXRED1 NM_017547.3(FOXRED1): c.10A> G (p.Arg4Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs149883459 GRCh37 Chromosome 11, 126139111: 126139111
21 FOXRED1 NM_017547.3(FOXRED1): c.305C> T (p.Thr102Met) single nucleotide variant Uncertain significance rs77785510 GRCh38 Chromosome 11, 126271656: 126271656
22 FOXRED1 NM_017547.3(FOXRED1): c.305C> T (p.Thr102Met) single nucleotide variant Uncertain significance rs77785510 GRCh37 Chromosome 11, 126141551: 126141551
23 FOXRED1 NM_017547.3(FOXRED1): c.435C> T (p.Val145=) single nucleotide variant Conflicting interpretations of pathogenicity rs147235743 GRCh38 Chromosome 11, 126273353: 126273353
24 FOXRED1 NM_017547.3(FOXRED1): c.435C> T (p.Val145=) single nucleotide variant Conflicting interpretations of pathogenicity rs147235743 GRCh37 Chromosome 11, 126143248: 126143248
25 NDUFS3 NM_004551.2(NDUFS3): c.79C> T (p.Pro27Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs368907187 GRCh38 Chromosome 11, 47579280: 47579280
26 NDUFS3 NM_004551.2(NDUFS3): c.79C> T (p.Pro27Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs368907187 GRCh37 Chromosome 11, 47600832: 47600832
27 NDUFS3 NM_004551.2(NDUFS3): c.475G> C (p.Val159Leu) single nucleotide variant Uncertain significance rs148331180 GRCh38 Chromosome 11, 47582181: 47582181
28 NDUFS3 NM_004551.2(NDUFS3): c.475G> C (p.Val159Leu) single nucleotide variant Uncertain significance rs148331180 GRCh37 Chromosome 11, 47603733: 47603733
29 NDUFV1 NM_007103.3(NDUFV1): c.-45T> G single nucleotide variant Conflicting interpretations of pathogenicity rs373940385 GRCh37 Chromosome 11, 67374431: 67374431
30 NDUFV1 NM_007103.3(NDUFV1): c.-45T> G single nucleotide variant Conflicting interpretations of pathogenicity rs373940385 GRCh38 Chromosome 11, 67606960: 67606960
31 NDUFV1 NM_007103.3(NDUFV1): c.150C> T (p.Asp50=) single nucleotide variant Conflicting interpretations of pathogenicity rs11540012 GRCh37 Chromosome 11, 67375944: 67375944
32 NDUFV1 NM_007103.3(NDUFV1): c.150C> T (p.Asp50=) single nucleotide variant Conflicting interpretations of pathogenicity rs11540012 GRCh38 Chromosome 11, 67608473: 67608473
33 NDUFV1 NM_007103.3(NDUFV1): c.800G> A (p.Arg267Lys) single nucleotide variant Uncertain significance rs141400889 GRCh37 Chromosome 11, 67378565: 67378565
34 NDUFV1 NM_007103.3(NDUFV1): c.800G> A (p.Arg267Lys) single nucleotide variant Uncertain significance rs141400889 GRCh38 Chromosome 11, 67611094: 67611094
35 NDUFV1 NM_007103.3(NDUFV1): c.1102G> A (p.Ala368Thr) single nucleotide variant Uncertain significance rs376958800 GRCh37 Chromosome 11, 67379389: 67379389
36 NDUFV1 NM_007103.3(NDUFV1): c.1102G> A (p.Ala368Thr) single nucleotide variant Uncertain significance rs376958800 GRCh38 Chromosome 11, 67611918: 67611918
37 NDUFS8 NM_002496.3(NDUFS8): c.64C> T (p.Pro22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs369602258 GRCh38 Chromosome 11, 68032291: 68032291
38 NDUFS8 NM_002496.3(NDUFS8): c.64C> T (p.Pro22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs369602258 GRCh37 Chromosome 11, 67799758: 67799758
39 NUBPL NM_025152.2(NUBPL): c.162C> T (p.Ser54=) single nucleotide variant Conflicting interpretations of pathogenicity rs34570972 GRCh38 Chromosome 14, 31562121: 31562121
40 NUBPL NM_025152.2(NUBPL): c.162C> T (p.Ser54=) single nucleotide variant Conflicting interpretations of pathogenicity rs34570972 GRCh37 Chromosome 14, 32031327: 32031327
41 NUBPL NM_025152.2(NUBPL): c.488C> T (p.Ser163Leu) single nucleotide variant Uncertain significance rs781341998 GRCh38 Chromosome 14, 31673549: 31673549
42 NUBPL NM_025152.2(NUBPL): c.488C> T (p.Ser163Leu) single nucleotide variant Uncertain significance rs781341998 GRCh37 Chromosome 14, 32142755: 32142755
43 NUBPL NM_025152.2(NUBPL): c.545T> C (p.Val182Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61752327 GRCh37 Chromosome 14, 32257017: 32257017
44 NUBPL NM_025152.2(NUBPL): c.545T> C (p.Val182Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61752327 GRCh38 Chromosome 14, 31787811: 31787811
45 NUBPL NM_025152.2(NUBPL): c.593A> C (p.Asn198Thr) single nucleotide variant Likely benign rs11558436 GRCh38 Chromosome 14, 31787859: 31787859
46 NUBPL NM_025152.2(NUBPL): c.593A> C (p.Asn198Thr) single nucleotide variant Likely benign rs11558436 GRCh37 Chromosome 14, 32257065: 32257065
47 NUBPL NM_025152.2(NUBPL): c.685C> T (p.His229Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs35867418 GRCh37 Chromosome 14, 32295912: 32295912
48 NUBPL NM_025152.2(NUBPL): c.685C> T (p.His229Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs35867418 GRCh38 Chromosome 14, 31826706: 31826706
49 NDUFAF1 NM_016013.3(NDUFAF1): c.855C> T (p.Thr285=) single nucleotide variant Conflicting interpretations of pathogenicity rs145122315 GRCh38 Chromosome 15, 41387573: 41387573
50 NDUFAF1 NM_016013.3(NDUFAF1): c.855C> T (p.Thr285=) single nucleotide variant Conflicting interpretations of pathogenicity rs145122315 GRCh37 Chromosome 15, 41679771: 41679771

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 respiratory chain GO:0070469 9.83 FOXRED1 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1
2 mitochondrial membrane GO:0031966 9.8 MT-ND1 MT-ND4 MT-ND6 NDUFA1 NDUFA13 NDUFAF4
3 mitochondrial matrix GO:0005759 9.71 NDUFS1 NDUFS2 NDUFS7 NUBPL
4 mitochondrial respiratory chain complex I GO:0005747 9.47 FOXRED1 MT-ND1 MT-ND2 MT-ND4 NDUFA1 NDUFA13
5 membrane GO:0016020 10.32 FOXRED1 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1
6 mitochondrial inner membrane GO:0005743 10.21 FOXRED1 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1
7 mitochondrion GO:0005739 10.06 FOXRED1 MT-ND1 MT-ND4 NDUFA1 NDUFA13 NDUFAF3

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 9.86 FOXRED1 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1
2 reactive oxygen species metabolic process GO:0072593 9.56 MT-ND2 NDUFA13 NDUFS1 NDUFS4
3 aerobic respiration GO:0009060 9.5 MT-ND1 MT-ND4 NDUFS7
4 cellular respiration GO:0045333 9.48 NDUFS1 NDUFS4
5 mitochondrion morphogenesis GO:0070584 9.46 NDUFS6 NUBPL
6 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.43 NDUFS2 NDUFV1
7 ATP synthesis coupled electron transport GO:0042773 9.4 MT-ND4 NDUFS1
8 electron transport coupled proton transport GO:0015990 9.37 MT-ND4 NDUFS7
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.36 MT-ND1 MT-ND2 MT-ND4 NDUFA1 NDUFB3 NDUFS1
10 mitochondrial respiratory chain complex I assembly GO:0032981 10.16 FOXRED1 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1

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 9.85 FOXRED1 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFAF5
2 iron-sulfur cluster binding GO:0051536 9.77 NDUFS1 NDUFS2 NDUFS7 NDUFV1 NUBPL
3 4 iron, 4 sulfur cluster binding GO:0051539 9.65 NDUFS1 NDUFS2 NDUFS7 NDUFV1 NUBPL
4 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.62 NDUFS1 NDUFS2 NDUFS4 NDUFV1
5 electron transfer activity GO:0009055 9.61 NDUFS1 NDUFS2 NDUFS6
6 NAD binding GO:0051287 9.46 NDUFS2 NDUFV1
7 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.44 MT-ND1 MT-ND2 MT-ND4 MT-ND6 NDUFA1 NDUFA13
8 NADH dehydrogenase activity GO:0003954 9.43 MT-ND1 MT-ND4 NDUFA13 NDUFS1 NDUFS2 NDUFS7
9 quinone binding GO:0048038 9.4 NDUFS2 NDUFS7

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
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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