MT-C4D
MCID: MTC097
MIFTS: 56

Mitochondrial Complex Iv Deficiency (MT-C4D)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency:

Name: Mitochondrial Complex Iv Deficiency 58 12 54 26 76
Cytochrome C Oxidase Deficiency 58 77 54 26 76 13 56
Cox Deficiency 58 54 26 76
Cytochrome-C Oxidase Deficiency 26 45 74
Complex 4 Mitochondrial Respiratory Chain Deficiency 54 76
Cytochrome-C Oxidase Deficiency Disease 12 15
Complex Iv Deficiency 54 26
Lethal Neonatal Cardiomyopathy Hypertrophic Due to Cytochrome C Oxidase Deficiency 76
Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency 60
Deficiency of Mitochondrial Respiratory Chain Complex4 54
Complex Iv Mitochondrial Respiratory Chain Deficiency 76
Isolated Cytochrome C Oxidase Deficiency 60
Deficiency, Mitochondrial Complex Iv 41
Cytochrome C Oxidase Deficiency 38
Isolated Cox Deficiency 60
Mt-C4d 76

Characteristics:

Orphanet epidemiological data:

60
isolated cytochrome c oxidase deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance;

OMIM:

58
Inheritance:
autosomal recessive
mitochondrial

Miscellaneous:
marked clinical heterogeneity
symptom onset ranges from infancy to adulthood
death may occur in infancy
genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
subset of patients have leigh syndrome
subset of patients have french-canadian leigh syndrome


HPO:

33
mitochondrial complex iv deficiency:
Inheritance heterogeneous autosomal recessive inheritance mitochondrial inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Mitochondrial Complex Iv Deficiency

NIH Rare Diseases : 54 Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. There are four types of COX deficiency differentiated by symptoms and age of onset: benign infantile mitochondrial type, French-Canadian type, infantile mitochondrial myopathy type, and Leigh syndrome. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same subtype and same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood.

MalaCards based summary : Mitochondrial Complex Iv Deficiency, also known as cytochrome c oxidase deficiency, is related to lactic acidosis and leigh syndrome, and has symptoms including seizures, ataxia and muscle weakness. An important gene associated with Mitochondrial Complex Iv Deficiency is COX6B1 (Cytochrome C Oxidase Subunit 6B1), and among its related pathways/superpathways are Oxidative phosphorylation and Porphyrin and chlorophyll metabolism. The drugs Coenzyme Q10 and Nutrients have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are ptosis and intellectual disability

Genetics Home Reference : 26 Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals.

OMIM : 58 Complex IV (cytochrome c oxidase; EC 1.9.3.1) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See 123995 for discussion of some of the nuclear-encoded subunits. Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare. (220110)

UniProtKB/Swiss-Prot : 76 Mitochondrial complex IV deficiency: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.

Wikipedia : 77 The enzyme cytochrome c oxidase or Complex IV, EC 1.9.3.1 is a large transmembrane protein complex found... more...

Related Diseases for Mitochondrial Complex Iv Deficiency

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

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 lactic acidosis 30.9 COX14 MT-CO1 MT-CO3
2 leigh syndrome 30.7 COX10 COX15 COX20 COX5A COX6B1 MT-CO1
3 mitochondrial myopathy 30.7 COX5A MT-CO1 MT-CO2 MT-CO3 MT-TL1
4 kearns-sayre syndrome 30.5 COX5A MT-CO1 MT-CO2 MT-TL1
5 mitochondrial encephalomyopathy 30.3 COX5A FASTKD2 MT-CO1 MT-CO2 MT-CO3 MT-TL1
6 myoglobinuria, recurrent 30.2 COX5A MT-CO1
7 cardioencephalomyopathy 30.1 COX15 COX5A SCO1 SURF1
8 deafness, nonsyndromic sensorineural, mitochondrial 30.1 MT-CO1 MT-CO2 MT-CO3
9 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.9 FASTKD2 MT-CO1 MT-CO2 MT-CO3 MT-TL1
10 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 13.0
11 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 13.0
12 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 12.8
13 leigh syndrome, french canadian type 12.0
14 mitochondrial myopathy, infantile, transient 12.0
15 leigh syndrome with cardiomyopathy 11.4
16 fars2 deficiency 11.4
17 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 11.3
18 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 11.3
19 charcot-marie-tooth disease, type 4k 11.3
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.1
21 encephalopathy 10.4
22 genetic recurrent myoglobinuria 10.4 MT-CO1 MT-CO3
23 cardiomyopathy, infantile hypertrophic 10.3 MT-CO2 MT-CO3
24 epilepsy, familial temporal lobe, 2 10.3 MT-CO1 MT-CO3
25 leber optic atrophy 10.3 MT-CO1 MT-CO2 MT-CO3
26 myasthenic syndrome, congenital, 10 10.2 MT-CO1 MT-CO2
27 familial colorectal cancer 10.2 MT-CO1 MT-CO2 MT-CO3
28 peripheral nervous system disease 10.2
29 neuropathy 10.2
30 mitochondrial dna depletion syndrome 1 10.2 MT-CO2 MT-CO3
31 alzheimer disease 10.1
32 myopia 6 10.1
33 west syndrome 10.1
34 hair disease 10.1
35 muscular atrophy 10.1
36 hypertrophic cardiomyopathy 10.1
37 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.1
38 diphyllobothriasis 10.1 MT-CO1 MT-TL1
39 gaucher disease, type iii 10.1 MT-CO2 MT-CO3
40 macular degeneration, age-related, 2 10.0
41 temporal arteritis 10.0
42 multiple acyl-coa dehydrogenase deficiency 10.0
43 mitochondrial dna depletion syndrome 9 10.0
44 3-methylglutaconic aciduria, type i 10.0
45 spinal muscular atrophy, type i 10.0
46 spastic paraplegia 20, autosomal recessive 10.0
47 cyclic vomiting syndrome 10.0
48 diabetes and deafness, maternally inherited 10.0
49 myasthenic syndrome, congenital, 16 10.0
50 combined oxidative phosphorylation deficiency 14 10.0

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



Diseases related to Mitochondrial Complex Iv Deficiency

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency

Human phenotypes related to Mitochondrial Complex Iv Deficiency:

33 (show all 33)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 muscular hypotonia 33 HP:0001252
6 failure to thrive 33 HP:0001508
7 global developmental delay 33 HP:0001263
8 hepatomegaly 33 HP:0002240
9 sensorineural hearing impairment 33 HP:0000407
10 optic atrophy 33 HP:0000648
11 proteinuria 33 HP:0000093
12 renal tubular dysfunction 33 HP:0000124
13 aminoaciduria 33 HP:0003355
14 hypertrophic cardiomyopathy 33 HP:0001639
15 respiratory insufficiency due to muscle weakness 33 HP:0002747
16 decreased liver function 33 HP:0001410
17 anemia 33 HP:0001903
18 respiratory distress 33 HP:0002098
19 increased serum lactate 33 HP:0002151
20 lactic acidosis 33 HP:0003128
21 motor delay 33 HP:0001270
22 increased intramyocellular lipid droplets 33 HP:0012240
23 generalized hypotonia 33 HP:0001290
24 exercise intolerance 33 HP:0003546
25 exertional dyspnea 33 HP:0002875
26 glycosuria 33 HP:0003076
27 increased hepatocellular lipid droplets 33 HP:0006565
28 pigmentary retinopathy 33 HP:0000580
29 renal fanconi syndrome 33 HP:0001994
30 increased csf lactate 33 HP:0002490
31 cytochrome c oxidase-negative muscle fibers 33 HP:0003688
32 leukoencephalopathy 33 HP:0002352
33 hyperphosphaturia 33 HP:0003109

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
optic atrophy
pigmentary retinopathy

Muscle Soft Tissue:
muscle weakness
exercise intolerance
hypotonia
muscle biopsy shows decrease or absence of cytochrome c oxidase
increased lipid droplets and abnormal mitochondria

Abdomen Liver:
hepatomegaly
liver dysfunction
liver biopsy shows increased lipid droplets and abnormal mitochondria

Genitourinary Kidneys:
renal tubular dysfunction
'de toni-fanconi-debre' syndrome
biopsy shows decreased cytochrome c oxidase

Metabolic Features:
lactic acidosis

Head And Neck Ears:
hearing loss, sensorineural

Neurologic Central Nervous System:
seizures
ataxia
increased csf lactate
leukoencephalopathy
developmental delay
more
Growth Other:
failure to thrive

Laboratory Abnormalities:
proteinuria
aminoaciduria
increased serum lactate
increased csf lactate
hyperphosphaturia
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

Respiratory:
exertional dyspnea
respiratory difficulties
respiratory failure due to muscle weakness

Hematology:
anemia (associated with mutation in the cox10 gene)

Clinical features from OMIM:

220110

UMLS symptoms related to Mitochondrial Complex Iv Deficiency:


seizures, ataxia, muscle weakness, dyspnea, dyspnea on exertion

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
2 Nutrients Phase 3
3 Micronutrients Phase 3
4 Vitamins Phase 3
5 Ubiquinone Phase 3
6 Trace Elements Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Mitochondrial Complex Iv Deficiency

Cochrane evidence based reviews: cytochrome-c oxidase deficiency

Genetic Tests for Mitochondrial Complex Iv Deficiency

Anatomical Context for Mitochondrial Complex Iv Deficiency

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency:

42
Liver, Skeletal Muscle, Brain, Heart, Smooth Muscle, Temporal Lobe, Placenta

Publications for Mitochondrial Complex Iv Deficiency

Articles related to Mitochondrial Complex Iv Deficiency:

(show top 50) (show all 269)
# Title Authors Year
1
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. ( 30315213 )
2019
2
The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage. ( 29886046 )
2018
3
A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency. ( 29660116 )
2018
4
Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage. ( 29396562 )
2018
5
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. ( 27539578 )
2017
6
Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency. ( 29059204 )
2017
7
Respiratory Chain Complex Disorganization Impairs Mitochondrial and Cellular Integrity: Phenotypic Variation in Cytochrome c Oxidase Deficiency. ( 27855277 )
2017
8
Mitochondrial cytochrome c oxidase deficiency. ( 26846578 )
2016
9
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. ( 27683825 )
2016
10
The phenotypic spectrum of fifty Czech m.3243A>G carriers. ( 27296531 )
2016
11
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. ( 26685157 )
2016
12
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. ( 24781756 )
2015
13
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. ( 25339201 )
2015
14
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. ( 25293719 )
2015
15
Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6. ( 25766330 )
2015
16
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. ( 25604084 )
2015
17
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. ( 24202787 )
2014
18
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. ( 24956508 )
2014
19
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. ( 24161539 )
2014
20
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. ( 25175347 )
2014
21
Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay. ( 25629267 )
2014
22
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. ( 24462369 )
2014
23
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. ( 23125284 )
2013
24
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. ( 23243073 )
2013
25
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. ( 22243966 )
2012
26
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations. ( 22465034 )
2012
27
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations. ( 22515166 )
2012
28
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency. ( 22592081 )
2012
29
The many clinical faces of cytochrome c oxidase deficiency. ( 22729865 )
2012
30
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. ( 21266382 )
2011
31
Cytochrome c oxidase deficiency in human posterior cricoarytenoid muscle. ( 20685075 )
2011
32
Subthalamic nuclei involvement in Leigh disease with cytochrome c oxidase deficiency. ( 21748946 )
2011
33
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency. ( 19616603 )
2010
34
Cytochrome c oxidase deficiency: patients and animal models. ( 19682572 )
2010
35
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. ( 19837698 )
2010
36
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. ( 20484224 )
2010
37
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. ( 20550934 )
2010
38
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. ( 20610441 )
2010
39
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. ( 20697048 )
2010
40
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. ( 19503089 )
2009
41
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. ( 19349610 )
2009
42
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. ( 19720722 )
2009
43
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. ( 19373256 )
2009
44
The alternative oxidase, a tool for compensating cytochrome c oxidase deficiency in human cells. ( 19493305 )
2009
45
The role of cytochrome c oxidase deficiency in ROS and amyloid plaque formation. ( 19795195 )
2009
46
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells. ( 20049701 )
2009
47
Isolated cytochrome c oxidase deficiency as a cause of MELAS. ( 21686692 )
2009
48
Loss of function of Sco1 and its interaction with cytochrome c oxidase. ( 19295170 )
2009
49
Protean phenotypic features of the A3243G mitochondrial DNA mutation. ( 19139304 )
2009
50
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. ( 18771761 )
2008

Variations for Mitochondrial Complex Iv Deficiency

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

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 COX10 p.Thr196Lys VAR_026562 rs104894555
2 COX10 p.Asn204Lys VAR_026563 rs104894560
3 COX10 p.Pro225Leu VAR_026564 rs104894556
4 COX10 p.Asp336Gly VAR_026565 rs104894557
5 COX10 p.Asp336Val VAR_026566 rs104894557
6 COX10 p.Gly288Arg VAR_076181 rs753048807
7 COX10 p.Pro420Leu VAR_076182 rs773079584
8 COX20 p.Thr52Pro VAR_080123 rs587777004
9 COX6B1 p.Arg20His VAR_046775 rs121909602
10 MT-CO1 p.Ser142Phe VAR_033055 rs267606883
11 MT-CO1 p.Leu196Ile VAR_033056 rs28461189
12 MT-CO2 p.Met29Lys VAR_035085 rs199474827
13 SCO1 p.Pro174Leu VAR_012109 rs104894630

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency:

6 (show top 50) (show all 667)
# Gene Variation Type Significance SNP ID Assembly Location
1 FASTKD2 NM_001136194.1(FASTKD2): c.1294C> T (p.Arg432Ter) single nucleotide variant Pathogenic rs118203917 GRCh37 Chromosome 2, 207638988: 207638988
2 FASTKD2 NM_001136194.1(FASTKD2): c.1294C> T (p.Arg432Ter) single nucleotide variant Pathogenic rs118203917 GRCh38 Chromosome 2, 206774264: 206774264
3 SCO1 NM_004589.3(SCO1): c.363_364delGA (p.Lys122Valfs) deletion Pathogenic rs587776629 GRCh37 Chromosome 17, 10599058: 10599059
4 SCO1 NM_004589.3(SCO1): c.363_364delGA (p.Lys122Valfs) deletion Pathogenic rs587776629 GRCh38 Chromosome 17, 10695741: 10695742
5 SCO1 NM_004589.3(SCO1): c.521C> T (p.Pro174Leu) single nucleotide variant Pathogenic rs104894630 GRCh37 Chromosome 17, 10596122: 10596122
6 SCO1 NM_004589.3(SCO1): c.521C> T (p.Pro174Leu) single nucleotide variant Pathogenic rs104894630 GRCh38 Chromosome 17, 10692805: 10692805
7 COX10 NM_001303.3(COX10): c.612C> A (p.Asn204Lys) single nucleotide variant Pathogenic rs104894560 GRCh37 Chromosome 17, 14005547: 14005547
8 COX10 NM_001303.3(COX10): c.612C> A (p.Asn204Lys) single nucleotide variant Pathogenic rs104894560 GRCh38 Chromosome 17, 14102230: 14102230
9 COX10 NM_001303.3(COX10): c.587C> A (p.Thr196Lys) single nucleotide variant Pathogenic rs104894555 GRCh37 Chromosome 17, 14005522: 14005522
10 COX10 NM_001303.3(COX10): c.587C> A (p.Thr196Lys) single nucleotide variant Pathogenic rs104894555 GRCh38 Chromosome 17, 14102205: 14102205
11 COX10 NM_001303.3(COX10): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs104894556 GRCh37 Chromosome 17, 14063243: 14063243
12 COX10 NM_001303.3(COX10): c.674C> T (p.Pro225Leu) single nucleotide variant Pathogenic rs104894556 GRCh38 Chromosome 17, 14159926: 14159926
13 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
14 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
15 MT-TN m.5728T> C single nucleotide variant Pathogenic rs199476132 GRCh37 Chromosome MT, 5728: 5728
16 MT-TN m.5728T> C single nucleotide variant Pathogenic rs199476132 GRCh38 Chromosome MT, 5728: 5728
17 MT-CO3 m.9487_9501delTCGCAGGATTTTTCT deletion Pathogenic rs267606612 GRCh37 Chromosome MT, 9487: 9501
18 MT-CO3 m.9487_9501delTCGCAGGATTTTTCT deletion Pathogenic rs267606612 GRCh38 Chromosome MT, 9487: 9501
19 MT-CO3 m.9952G> A single nucleotide variant Pathogenic rs267606613 GRCh37 Chromosome MT, 9952: 9952
20 MT-CO3 m.9952G> A single nucleotide variant Pathogenic rs267606613 GRCh38 Chromosome MT, 9952: 9952
21 MT-CO3 m.9537dupC duplication Pathogenic rs267606614 GRCh37 Chromosome MT, 9537: 9537
22 MT-CO3 m.9537dupC duplication Pathogenic rs267606614 GRCh38 Chromosome MT, 9537: 9537
23 MT-CO3 m.9379G> A single nucleotide variant Pathogenic rs267606615 GRCh37 Chromosome MT, 9379: 9379
24 MT-CO3 m.9379G> A single nucleotide variant Pathogenic rs267606615 GRCh38 Chromosome MT, 9379: 9379
25 MT-CO2 m.7587T> C single nucleotide variant Pathogenic rs199474825 GRCh37 Chromosome MT, 7587: 7587
26 MT-CO2 m.7587T> C single nucleotide variant Pathogenic rs199474825 GRCh38 Chromosome MT, 7587: 7587
27 MT-CO2 m.7671T> A single nucleotide variant Pathogenic rs199474827 GRCh37 Chromosome MT, 7671: 7671
28 MT-CO2 m.7671T> A single nucleotide variant Pathogenic rs199474827 GRCh38 Chromosome MT, 7671: 7671
29 MT-CO2 m.8042_8043delAT deletion Pathogenic rs199474828 GRCh37 Chromosome MT, 8042: 8043
30 MT-CO2 m.8042_8043delAT deletion Pathogenic rs199474828 GRCh38 Chromosome MT, 8042: 8043
31 MT-CO2 m.7896G> A single nucleotide variant Pathogenic rs199474829 GRCh37 Chromosome MT, 7896: 7896
32 MT-CO2 m.7896G> A single nucleotide variant Pathogenic rs199474829 GRCh38 Chromosome MT, 7896: 7896
33 MT-CO1 m.6480G> A single nucleotide variant Pathogenic rs199476128 GRCh37 Chromosome MT, 6480: 6480
34 MT-CO1 m.6480G> A single nucleotide variant Pathogenic rs199476128 GRCh38 Chromosome MT, 6480: 6480
35 MT-CO1 m.6930G> A single nucleotide variant Pathogenic rs28679680 GRCh37 Chromosome MT, 6930: 6930
36 MT-CO1 m.6930G> A single nucleotide variant Pathogenic rs28679680 GRCh38 Chromosome MT, 6930: 6930
37 SURF1 SURF1, 2-BP DEL, 790AG deletion Pathogenic
38 COX6B1 NM_001863.5(COX6B1): c.59G> A (p.Arg20His) single nucleotide variant Pathogenic rs121909602 GRCh37 Chromosome 19, 36142204: 36142204
39 COX6B1 NM_001863.5(COX6B1): c.59G> A (p.Arg20His) single nucleotide variant Pathogenic rs121909602 GRCh38 Chromosome 19, 35651302: 35651302
40 COX14 NM_001257133.1(COX14): c.57G> A (p.Met19Ile) single nucleotide variant Pathogenic rs587776904 GRCh37 Chromosome 12, 50513883: 50513883
41 COX14 NM_001257133.1(COX14): c.57G> A (p.Met19Ile) single nucleotide variant Pathogenic rs587776904 GRCh38 Chromosome 12, 50120100: 50120100
42 COX20 NM_001312871.1(COX20): c.154A> C (p.Thr52Pro) single nucleotide variant Pathogenic rs587777004 GRCh37 Chromosome 1, 245005357: 245005357
43 COX20 NM_001312871.1(COX20): c.154A> C (p.Thr52Pro) single nucleotide variant Pathogenic rs587777004 GRCh38 Chromosome 1, 244842055: 244842055
44 SCO1 NM_004589.3(SCO1): c.394G> A (p.Gly132Ser) single nucleotide variant Pathogenic rs587777220 GRCh37 Chromosome 17, 10596249: 10596249
45 SCO1 NM_004589.3(SCO1): c.394G> A (p.Gly132Ser) single nucleotide variant Pathogenic rs587777220 GRCh38 Chromosome 17, 10692932: 10692932
46 PET100 NM_001171155.1(PET100): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs587777839 GRCh38 Chromosome 19, 7629836: 7629836
47 PET100 NM_001171155.1(PET100): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs587777839 GRCh37 Chromosome 19, 7694722: 7694722
48 PET100 NM_001171155.1(PET100): c.142C> T (p.Gln48Ter) single nucleotide variant Pathogenic rs587779779 GRCh38 Chromosome 19, 7631476: 7631476
49 PET100 NM_001171155.1(PET100): c.142C> T (p.Gln48Ter) single nucleotide variant Pathogenic rs587779779 GRCh37 Chromosome 19, 7696362: 7696362
50 COX15 NM_004376.6(COX15): c.1120T> C (p.Phe374Leu) single nucleotide variant Benign rs2231687 GRCh37 Chromosome 10, 101473218: 101473218

Expression for Mitochondrial Complex Iv Deficiency

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

Pathways for Mitochondrial Complex Iv Deficiency

Pathways related to Mitochondrial Complex Iv Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190
2 Porphyrin and chlorophyll metabolism hsa00860
3 Cardiac muscle contraction hsa04260

Pathways related to Mitochondrial Complex Iv Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 COX10 COX14 COX15 COX20 COX5A COX6B1
2
Show member pathways
13.54 COX14 COX20 COX5A COX6B1 COX8A MT-CO1
3
Show member pathways
13.26 COA3 COX10 COX14 COX15 COX20 COX5A
4
Show member pathways
12.52 COX14 COX20 COX5A COX6B1 COX8A MT-CO1
5
Show member pathways
11.96 COX10 COX15 COX5A COX6B1 COX8A
6 11.63 COX5A COX6B1 COX8A MT-CO1 MT-CO2 MT-CO3
7 11.29 COX14 COX20 COX5A COX6B1 COX8A MT-CO1
8 10.28 COX5A COX8A

GO Terms for Mitochondrial Complex Iv Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.73 COA3 COX10 COX15 COX20 COX5A COX6B1
2 mitochondrial membrane GO:0031966 9.61 COX10 COX14 COX15
3 respiratory chain complex IV GO:0045277 9.55 COX6B1 COX8A MT-CO1 MT-CO2 MT-CO3
4 mitochondrion GO:0005739 9.53 COA3 COX10 COX14 COX15 COX20 COX5A
5 integral component of mitochondrial inner membrane GO:0031305 9.5 COA3 PET100 SCO1
6 mitochondrial respiratory chain GO:0005746 9.4 COX15 SURF1
7 cytochrome complex GO:0070069 9.37 COX10 COX15
8 mitochondrial respiratory chain complex IV GO:0005751 9.26 COX5A MT-CO1
9 integral component of membrane GO:0016021 10.23 COA3 COX10 COX14 COX15 COX20 COX8A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.77 COX5A COX8A MT-CO1 MT-CO2 SURF1
2 aerobic respiration GO:0009060 9.72 COX10 COX20 MT-CO1 MT-CO3 SURF1
3 respiratory chain complex IV assembly GO:0008535 9.65 COX10 COX15 MT-CO3 SCO1 SURF1
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.63 COX10 COX15 COX5A MT-CO1 MT-CO2 MT-CO3
5 proton transmembrane transport GO:1902600 9.61 COX10 COX15 COX5A COX6B1 COX8A MT-CO1
6 cellular respiration GO:0045333 9.58 COX10 COX15 FASTKD2
7 heme biosynthetic process GO:0006783 9.49 COX10 COX15
8 positive regulation of mitochondrial translation GO:0070131 9.48 COA3 FASTKD2
9 oxidative phosphorylation GO:0006119 9.46 MT-CO1 SURF1
10 heme a biosynthetic process GO:0006784 9.43 COX10 COX15
11 mitochondrial respiratory chain complex IV assembly GO:0033617 9.17 COA3 COX14 COX20 PET100 PET117 SCO1

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 9.28 COX10 COX15 COX5A COX6B1 COX8A MT-CO1

Sources for Mitochondrial Complex Iv Deficiency

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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