MC1DN1
MCID: MTC146
MIFTS: 57

Mitochondrial Complex I Deficiency, Nuclear Type 1 (MC1DN1)

Categories: Genetic diseases, Metabolic diseases, Neuronal 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 57 74 29 6
Mitochondrial Complex I Deficiency 57 12 53 25 74 37 29 55 6 44 15 40
Nadh:q(1) Oxidoreductase Deficiency 57 53 25 74
Isolated Mitochondrial Respiratory Chain Complex I Deficiency 12 53 59
Isolated Nadh-Coenzyme Q Reductase Deficiency 12 53 59
Isolated Nadh-Ubiquinone Reductase Deficiency 12 53 59
Isolated Nadh-Coq Reductase Deficiency 12 53 59
Nadh-Coenzyme Q Reductase Deficiency 57 25 74
Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of 57 53
Isolated Complex I Deficiency 53 59
Mc1dn1 57 74
Deficiency of Mitochondrial Nadh Dehydrogenase Component of Complex I 74
Complex I, Mitochondrial Respiratory Chain, Deficiency of 13
Complex 1 Mitochondrial Respiratory Chain Deficiency 53
Complex I Mitochondrial Respiratory Chain Deficiency 74
Nadh:ubiquinone Oxidoreductase Deficiency 74
Nadh Coenzyme Q Reductase Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
isolated complex i deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance,X-linked dominant; Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy
early death may occur


HPO:

32
mitochondrial complex i deficiency, nuclear type 1:
Inheritance autosomal recessive inheritance x-linked dominant inheritance mitochondrial inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060536
KEGG 37 H00473
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 73 C2936907
Orphanet 59 ORPHA2609
UMLS 72 C2936907

Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 1

Genetics Home Reference : 25 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. Mitochondrial complex I deficiency can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system, the heart, and the muscles used for movement (skeletal muscles). These signs and symptoms can appear at any time from birth to adulthood. People with mitochondrial complex I deficiency typically have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). Affected individuals may have low muscle tone (hypotonia), muscle pain (myalgia), and extreme fatigue in response to physical activity (exercise intolerance). They tend to develop elevated levels of lactic acid in the blood (lactic acidosis), which can cause nausea, vomiting, weakness, and rapid breathing. In severe cases, lactic acidosis can be life-threatening. People with mitochondrial complex I deficiency sometimes have heart, liver, or kidney problems. Vision problems due to abnormal eye movement or breakdown (degeneration) of the nerves that carry signals from the eyes to the brain (optic nerves) can also occur. Some people with mitochondrial complex I deficiency have groups of signs and symptoms that are classified as a specific syndrome. For example, a condition called Leigh syndrome is most commonly caused by mitochondrial complex I deficiency. Leigh syndrome is characterized by progressive loss of mental and movement abilities (developmental or psychomotor regression) and typically results in death within 2 to 3 years from the onset of symptoms. Another condition that can be caused by mitochondrial complex I deficiency, Leber hereditary optic neuropathy, is associated mainly with vision problems due to optic nerve degeneration. These syndromes can also have other causes.

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. 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 brain, and related phenotypes are abnormal mitochondria in muscle tissue and microcephaly

Disease Ontology : 12 A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.

NIH Rare Diseases : 53 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).

OMIM : 57 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)

KEGG : 37
Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is a giant multiheteromeric structure. Complex I deficiency is known to be associated with a broad spectrum of clinical presentations, that include encephalopathy, cardiomyopathy, myopathy, and liver disease.

UniProtKB/Swiss-Prot : 74 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 108)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 31.6 NUBPL NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2
2 mitochondrial myopathy 31.2 NDUFV1 MT-ND4 MT-ND2
3 mitochondrial encephalomyopathy 31.0 NDUFA1 MT-ND4 MT-ND2
4 leber optic atrophy 30.0 MT-ND4 MT-ND2
5 mitochondrial metabolism disease 29.8 TMEM126B NDUFV1 NDUFS6 NDUFS4 NDUFS2 NDUFS1
6 mitochondrial complex i deficiency, nuclear type 20 12.9
7 mitochondrial complex i deficiency, nuclear type 2 12.9
8 mitochondrial complex i deficiency, nuclear type 4 12.9
9 mitochondrial complex i deficiency, nuclear type 6 12.9
10 mitochondrial complex i deficiency, nuclear type 8 12.9
11 mitochondrial complex i deficiency, nuclear type 9 12.9
12 mitochondrial complex i deficiency, nuclear type 14 12.9
13 mitochondrial complex i deficiency, nuclear type 25 12.9
14 mitochondrial complex i deficiency, nuclear type 27 12.9
15 mitochondrial complex i deficiency, nuclear type 32 12.9
16 mitochondrial complex i deficiency, nuclear type 33 12.9
17 mitochondrial complex i deficiency, mitochondrial type 1 12.9
18 mitochondrial complex i deficiency, nuclear type 12 12.8
19 mitochondrial complex i deficiency, nuclear type 30 12.8
20 mitochondrial complex i deficiency, nuclear type 7 12.8
21 mitochondrial complex i deficiency, nuclear type 10 12.8
22 mitochondrial complex i deficiency, nuclear type 11 12.8
23 mitochondrial complex i deficiency, nuclear type 13 12.8
24 mitochondrial complex i deficiency, nuclear type 15 12.8
25 mitochondrial complex i deficiency, nuclear type 16 12.8
26 mitochondrial complex i deficiency, nuclear type 17 12.8
27 mitochondrial complex i deficiency, nuclear type 18 12.8
28 mitochondrial complex i deficiency, nuclear type 19 12.8
29 mitochondrial complex i deficiency, nuclear type 21 12.8
30 mitochondrial complex i deficiency, nuclear type 22 12.8
31 mitochondrial complex i deficiency, nuclear type 23 12.8
32 mitochondrial complex i deficiency, nuclear type 24 12.8
33 mitochondrial complex i deficiency, nuclear type 26 12.8
34 mitochondrial complex i deficiency, nuclear type 28 12.8
35 mitochondrial complex i deficiency, nuclear type 29 12.8
36 mitochondrial complex i deficiency, nuclear type 31 12.8
37 obsolete: fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 12.5
38 mitochondrial complex v deficiency, nuclear type 1 12.4
39 mitochondrial complex iii deficiency, nuclear type 1 12.2
40 nephronophthisis-like nephropathy 1 11.3
41 deafness, nonsyndromic sensorineural, mitochondrial 10.5 MT-ND4 MT-ND2
42 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.4
43 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.4
44 mitochondrial disorders 10.4
45 exposure keratitis 10.4 NDUFA1 MT-ND4
46 lactic acidosis 10.3
47 migraine with or without aura 1 10.3
48 pathologic nystagmus 10.3
49 hypertrophic cardiomyopathy 10.3
50 polg-related disorders 10.3

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:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal mitochondria in muscle tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0008316
2 microcephaly 59 32 very rare (1%) Occasional (29-5%) HP:0000252
3 ptosis 59 32 Very frequent (99-80%) HP:0000508
4 nystagmus 59 32 Very frequent (99-80%) HP:0000639
5 ataxia 59 32 Very frequent (99-80%) HP:0001251
6 muscular hypotonia 59 32 Very frequent (99-80%) HP:0001252
7 failure to thrive 59 32 Very frequent (99-80%) HP:0001508
8 respiratory insufficiency 59 32 Very frequent (99-80%) HP:0002093
9 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
10 hepatomegaly 59 32 Very frequent (99-80%) HP:0002240
11 sensorineural hearing impairment 59 32 Very frequent (99-80%) HP:0000407
12 blindness 59 32 Occasional (29-5%) HP:0000618
13 vomiting 59 32 Very frequent (99-80%) HP:0002013
14 hypertrophic cardiomyopathy 59 32 Very frequent (99-80%) HP:0001639
15 hypoglycemia 59 32 Very frequent (99-80%) HP:0001943
16 strabismus 59 32 Very frequent (99-80%) HP:0000486
17 lactic acidosis 59 32 Very frequent (99-80%) HP:0003128
18 optic neuropathy 59 32 Very frequent (99-80%) HP:0001138
19 lethargy 59 32 Very frequent (99-80%) HP:0001254
20 optic disc pallor 59 32 Very frequent (99-80%) HP:0000543
21 poor eye contact 59 32 Very frequent (99-80%) HP:0000817
22 leukoencephalopathy 59 32 Very frequent (99-80%) HP:0002352
23 leukodystrophy 59 32 Very frequent (99-80%) HP:0002415
24 poor head control 59 32 Very frequent (99-80%) HP:0002421
25 increased csf lactate 59 32 Very frequent (99-80%) HP:0002490
26 diabetes mellitus 59 Occasional (29-5%)
27 seizures 32 HP:0001250
28 spasticity 32 HP:0001257
29 muscle weakness 59 Very frequent (99-80%)
30 hyperreflexia 32 HP:0001347
31 developmental regression 32 HP:0002376
32 dyskinesia 32 HP:0100660
33 feeding difficulties in infancy 32 HP:0008872
34 skeletal muscle atrophy 32 HP:0003202
35 generalized hypotonia 32 HP:0001290
36 feeding difficulties 59 Occasional (29-5%)
37 growth delay 32 HP:0001510
38 intrauterine growth retardation 59 Very frequent (99-80%)
39 babinski sign 32 HP:0003487
40 mitochondrial myopathy 59 Very frequent (99-80%)
41 respiratory failure 32 HP:0002878
42 hepatic failure 32 HP:0001399
43 coma 32 HP:0001259
44 paroxysmal involuntary eye movements 59 Very frequent (99-80%)
45 hyporeflexia 32 HP:0001265
46 cerebellar atrophy 32 HP:0001272
47 cerebral edema 32 HP:0002181
48 exercise intolerance 32 HP:0003546
49 encephalopathy 59 Very frequent (99-80%)
50 increased serum pyruvate 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
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:
sensorineural deafness
auditory neuropathy

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 FOXRED1 MT-ND2 MT-ND4 NDUFA1 NDUFA11 NDUFA13
2 Decreased shRNA abundance GR00297-A 9.5 NDUFA1 NDUFA11 NDUFA13 NDUFS1 NDUFS2 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 29
2 Mitochondrial Complex I Deficiency, Nuclear Type 1 29 NDUFS4

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 1

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

41
Liver, Eye, Brain, Skeletal Muscle, Heart, Kidney, Skin

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 1

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

(show top 50) (show all 150)
# Title Authors PMID Year
1
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 8 71
24020637 2014
2
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 8 71
19107570 2008
3
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. 8 71
12616398 2003
4
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. 8 71
11181577 2001
5
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. 8 71
10944442 2000
6
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. 8 71
9463323 1998
7
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. 9 38 8
10393702 1999
8
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 38 8
22499348 2012
9
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 38 8
15372108 2004
10
Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein. 38 8
2512443 1989
11
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 71
26345448 2015
12
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 71
21596602 2011
13
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. 8
21364701 2011
14
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. 8
20972245 2011
15
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. 71
19185523 2009
16
C6ORF66 is an assembly factor of mitochondrial complex I. 71
18179882 2008
17
Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance. 71
15781840 2005
18
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 8
14705112 2004
19
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 8
14729820 2004
20
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. 71
12707444 2003
21
Paternal inheritance of mitochondrial DNA. 71
12192017 2002
22
Respiratory chain complex I deficiency. 8
11579423 2001
23
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. 8
10649489 2000
24
Human mitochondrial complex I in health and disease. 8
10330338 1999
25
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 71
10080174 1999
26
Fate of microinjected spermatid mitochondria in the mouse oocyte and embryo. 71
9854792 1998
27
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. 8
9683589 1998
28
Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. 8
9593934 1998
29
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency. 8
9382480 1997
30
NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings. 8
8892026 1996
31
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. 8
7867654 1995
32
Paternal inheritance of mitochondrial DNA in mice. 71
1857422 1991
33
Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts. 8
1903590 1991
34
Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment. 8
2512441 1989
35
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. 8
3110216 1987
36
Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I. 8
3100577 1987
37
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis. 8
6432847 1984
38
Mapping of the genes of some components of the electron transport chain (complex I) on the X chromosome of mammals. 8
6819642 1982
39
Biochemical and genetic characterization of respiration-deficient mutants of Chinese hamster cells with a Gal- phenotype. 8
7292258 1981
40
Hamster cell mutants unable to grow on galactose and exhibiting an overlapping complementation pattern are defective in the electron transport chain. 8
7240234 1981
41
Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity. 8
7229653 1981
42
A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity. 8
521828 1979
43
Respiration-deficient Chinese hamster cell mutants: biochemical characterization. 8
494059 1979
44
Respiration-deficient Chinese hamster cell mutants: genetic characterization. 8
483122 1979
45
A respiration-deficient Chinese hamster cell line with a defect in NADH-coenzyme Q reductase. 8
947896 1976
46
The selection of Chinese hamster cells deficient in oxidative energy metabolism. 8
1027147 1976
47
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. 9 38
19384974 2009
48
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 9 38
19463981 2009
49
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 9 38
19089472 2009
50
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. 9 38
19336460 2009

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 1

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

6 (show top 50) (show all 529)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NDUFV1 NM_007103.4(NDUFV1): c.1118T> C (p.Phe373Ser) single nucleotide variant Pathogenic rs1135402749 11:67379405-67379405 11:67611934-67611934
2 NDUFS4 NM_002495.4(NDUFS4): c.99-1G> A single nucleotide variant Pathogenic rs376281345 5:52899281-52899281 5:53603451-53603451
3 NDUFAF4 NM_014165.4(NDUFAF4): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs63751061 6:97344666-97344666 6:96896790-96896790
4 NDUFS4 NM_002495.4(NDUFS4): c.462del (p.Lys154fs) deletion Pathogenic rs587776949 5:52978985-52978985 5:53683155-53683155
5 NDUFA13 NM_015965.7(NDUFA13): c.170G> A (p.Arg57His) single nucleotide variant Pathogenic rs752513525 19:19637066-19637066 19:19526257-19526257
6 MT-ND2 m.4810G> A single nucleotide variant Pathogenic rs267606888 MT:4810-4810 MT:4810-4810
7 MT-ND2 m.5132_5133delAA deletion Pathogenic rs199476116 MT:5132-5133 MT:5132-5133
8 MT-ND4 m.11777C> A single nucleotide variant Pathogenic rs28384199 MT:11777-11777 MT:11777-11777
9 NDUFS4 NM_002495.4(NDUFS4): c.44G> A (p.Trp15Ter) single nucleotide variant Pathogenic rs104893899 5:52856536-52856536 5:53560706-53560706
10 NDUFS4 NM_002495.4(NDUFS4): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs104893898 5:52942201-52942201 5:53646371-53646371
11 NDUFS4 NM_002495.4(NDUFS4): c.291del (p.Lys96_Trp97insTer) deletion Pathogenic rs121908985 5:52942176-52942176 5:53646346-53646346
12 NDUFS4 NM_002495.4(NDUFS4): c.466_470dup (p.Lys158fs) duplication Pathogenic 5:52978989-52978993 5:53683159-53683163
13 NDUFB11 NM_019056.6(NDUFB11): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs786205225 X:47002089-47002089 X:47142690-47142690
14 NDUFS1 NM_005006.7(NDUFS1): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs750971390 2:207017232-207017232 2:206152508-206152508
15 NUBPL NM_025152.3(NUBPL): c.311T> C (p.Leu104Pro) single nucleotide variant Pathogenic/Likely pathogenic rs201430951 14:32068514-32068514 14:31599308-31599308
16 NDUFV1 NM_007103.4(NDUFV1): c.1268C> T (p.Thr423Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913659 11:67379696-67379696 11:67612225-67612225
17 NDUFAF2 NM_174889.5(NDUFAF2): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852863 5:60368963-60368963 5:61073136-61073136
18 NDUFV1 NM_007103.4(NDUFV1): c.1162+4A> C single nucleotide variant Pathogenic/Likely pathogenic rs199683937 11:67379453-67379453 11:67611982-67611982
19 FOXRED1 NM_017547.4(FOXRED1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic/Likely pathogenic rs373075574 11:126142963-126142963 11:126273068-126273068
20 NDUFB3 NM_002491.3(NDUFB3): c.64T> C (p.Trp22Arg) single nucleotide variant Pathogenic/Likely pathogenic rs142609245 2:201943669-201943669 2:201078946-201078946
21 FOXRED1 NM_017547.4(FOXRED1): c.632G> C (p.Gly211Ala) single nucleotide variant Likely pathogenic rs536400690 11:126145222-126145222 11:126275327-126275327
22 NDUFS3 NM_004551.3(NDUFS3): c.596G> A (p.Arg199Gln) single nucleotide variant Likely pathogenic rs771783839 11:47603989-47603989 11:47582437-47582437
23 SLC25A10 NM_001270888.2(SLC25A10): c.304A> T (p.Lys102Ter) single nucleotide variant Likely pathogenic rs1555703272 17:79682598-79682598 17:81715568-81715568
24 NDUFAF5 NM_024120.5(NDUFAF5): c.749G> T (p.Gly250Val) single nucleotide variant Likely pathogenic rs757043077 20:13789519-13789519 20:13808873-13808873
25 NDUFS1 NM_005006.7(NDUFS1): c.845A> G (p.Asn282Ser) single nucleotide variant Likely pathogenic rs1485032272 2:207009643-207009643 2:206144919-206144919
26 NUBPL NM_025152.3(NUBPL): c.-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201073307 14:32030639-32030639 14:31561433-31561433
27 NUBPL NM_025152.3(NUBPL): c.-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs754769393 14:32030633-32030633 14:31561427-31561427
28 NDUFA2 NM_002488.4(NDUFA2): c.-50G> A single nucleotide variant Conflicting interpretations of pathogenicity rs143857164 5:140027218-140027218 5:140647633-140647633
29 NDUFS6 NM_004553.5(NDUFS6): c.*15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200445799 5:1816045-1816045 5:1815931-1815931
30 NDUFAF5 NM_024120.5(NDUFAF5): c.836T> G (p.Met279Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs761389904 20:13797166-13797166 20:13816520-13816520
31 NDUFAF4 NM_014165.4(NDUFAF4): c.491T> A (p.Phe164Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201754378 6:97339017-97339017 6:96891141-96891141
32 NDUFS8 NM_002496.4(NDUFS8): c.299C> T (p.Ala100Val) single nucleotide variant Conflicting interpretations of pathogenicity rs748754134 11:67800677-67800677 11:68033210-68033210
33 NUBPL NM_025152.3(NUBPL): c.639C> T (p.Ile213=) single nucleotide variant Conflicting interpretations of pathogenicity rs35330765 14:32295866-32295866 14:31826660-31826660
34 NDUFV1 NM_007103.4(NDUFV1): c.366G> A (p.Pro122=) single nucleotide variant Conflicting interpretations of pathogenicity rs140445386 11:67376962-67376962 11:67609491-67609491
35 NDUFS8 NM_002496.4(NDUFS8): c.459C> T (p.Cys153=) single nucleotide variant Conflicting interpretations of pathogenicity rs149201273 11:67803806-67803806 11:68036339-68036339
36 NDUFS8 NM_002496.4(NDUFS8): c.502-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369961682 11:67803919-67803919 11:68036452-68036452
37 NDUFS8 NM_002496.4(NDUFS8): c.597C> T (p.Ile199=) single nucleotide variant Conflicting interpretations of pathogenicity rs1804688 11:67804024-67804024 11:68036557-68036557
38 NDUFS8 ; TCIRG1 NM_002496.4(NDUFS8): c.*40A> G single nucleotide variant Conflicting interpretations of pathogenicity rs61329983 11:67804100-67804100 11:68036633-68036633
39 NDUFS8 NM_002496.4(NDUFS8): c.502-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199793417 11:67803916-67803916 11:68036449-68036449
40 NDUFS3 NM_004551.3(NDUFS3): c.91T> C (p.Leu31=) single nucleotide variant Conflicting interpretations of pathogenicity rs770306617 11:47600844-47600844 11:47579292-47579292
41 NDUFV1 NM_007103.4(NDUFV1): c.205C> T (p.Leu69=) single nucleotide variant Conflicting interpretations of pathogenicity rs199543483 11:67376072-67376072 11:67608601-67608601
42 NDUFS1 NM_005006.7(NDUFS1): c.421-7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs192949406 2:207012392-207012392 2:206147668-206147668
43 NDUFS7 NM_024407.5(NDUFS7): c.153C> T (p.Ala51=) single nucleotide variant Conflicting interpretations of pathogenicity rs140236960 19:1388862-1388862 19:1388863-1388863
44 NDUFS1 NM_005006.7(NDUFS1): c.1291C> G (p.Leu431Val) single nucleotide variant Conflicting interpretations of pathogenicity rs78042826 2:207003310-207003310 2:206138586-206138586
45 NDUFS1 NM_005006.7(NDUFS1): c.1371G> A (p.Ser457=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230892 2:207003230-207003230 2:206138506-206138506
46 NDUFV1 NM_007103.4(NDUFV1): c.72+15G> T single nucleotide variant Conflicting interpretations of pathogenicity rs187400726 11:67374562-67374562 11:67607091-67607091
47 NDUFV2 NM_021074.5(NDUFV2): c.580-12T> A single nucleotide variant Conflicting interpretations of pathogenicity rs114558512 18:9126817-9126817 18:9126819-9126819
48 NUBPL NM_025152.3(NUBPL): c.-1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs45468395 14:32030645-32030645 14:31561439-31561439
49 AMACR NM_014324.6(AMACR): c.844G> C (p.Glu282Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs181341030 5:33989503-33989503 5:33989398-33989398
50 NDUFS2 NM_004550.4(NDUFS2): c.875T> C (p.Met292Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs150667550 1:161180389-161180389 1:161210599-161210599

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

74
# Symbol AA change Variation ID SNP ID
1 NDUFS4 p.Asp119His VAR_078946 rs747359752

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:

37
# 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 mitochondrion GO:0005739 9.89 TMEM126B NUBPL NDUFV2 NDUFV1 NDUFS4 NDUFS2
2 mitochondrial membrane GO:0031966 9.77 TMEM126B NDUFAF4 NDUFA13 NDUFA1 MT-ND4
3 mitochondrial inner membrane GO:0005743 9.6 TMEM126B NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2
4 membrane GO:0016020 10.3 TMEM126B NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2
5 respiratory chain GO:0070469 10.1 NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2 NDUFS1
6 mitochondrial respiratory chain complex I GO:0005747 10 NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2 NDUFS1

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 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.85 NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2 NDUFS1
2 oxidation-reduction process GO:0055114 9.83 NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2 NDUFS1
3 reactive oxygen species metabolic process GO:0072593 9.65 NDUFS4 NDUFS1 NDUFAF2 NDUFA13 MT-ND2
4 mitochondrial respiratory chain complex I assembly GO:0032981 9.62 TMEM126B NUBPL NDUFV2 NDUFV1 NDUFS6 NDUFS4
5 cellular respiration GO:0045333 9.5 NDUFS4 NDUFS1 NDUFAF2
6 mitochondrion morphogenesis GO:0070584 9.46 NUBPL NDUFS6
7 respiratory electron transport chain GO:0022904 9.43 NDUFS6 NDUFAF2
8 mitochondrial ATP synthesis coupled electron transport GO:0042775 9.4 NDUFV1 NDUFS2
9 ATP synthesis coupled electron transport GO:0042773 9.37 NDUFS1 MT-ND4

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 9.91 NDUFV2 NDUFV1 NDUFS2 NDUFS1 NDUFAF5 MT-ND2
2 electron transfer activity GO:0009055 9.72 NDUFV2 NDUFS6 NDUFS2 NDUFS1 NDUFAF2
3 4 iron, 4 sulfur cluster binding GO:0051539 9.71 NUBPL NDUFV1 NDUFS2 NDUFS1
4 iron-sulfur cluster binding GO:0051536 9.65 NUBPL NDUFV2 NDUFV1 NDUFS2 NDUFS1
5 NAD binding GO:0051287 9.46 NDUFV1 NDUFS2
6 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.46 NDUFV1 NDUFS4 NDUFS2 NDUFS1
7 2 iron, 2 sulfur cluster binding GO:0051537 9.43 NDUFV2 NDUFS1
8 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.4 NDUFV2 NDUFV1 NDUFS6 NDUFS4 NDUFS2 NDUFS1
9 NADH dehydrogenase activity GO:0003954 9.26 NDUFS2 NDUFS1 NDUFA13 MT-ND4

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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