MCID: MTC097
MIFTS: 54

Mitochondrial Complex Iv Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency:

Name: Mitochondrial Complex Iv Deficiency 57 12 53 25 75
Cytochrome C Oxidase Deficiency 57 76 53 25 75 13 55
Cox Deficiency 57 53 25 75
Cytochrome-C Oxidase Deficiency 25 44 73
Complex 4 Mitochondrial Respiratory Chain Deficiency 53 75
Cytochrome-C Oxidase Deficiency Disease 12 15
Complex Iv Deficiency 53 25
Lethal Neonatal Cardiomyopathy Hypertrophic Due to Cytochrome C Oxidase Deficiency 75
Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency 59
Deficiency of Mitochondrial Respiratory Chain Complex4 53
Complex Iv Mitochondrial Respiratory Chain Deficiency 75
Isolated Cytochrome C Oxidase Deficiency 59
Deficiency, Mitochondrial Complex Iv 40
Cytochrome C Oxidase Deficiency 37
Isolated Cox Deficiency 59
Mt-C4d 75

Characteristics:

Orphanet epidemiological data:

59
isolated cytochrome c oxidase deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance;

OMIM:

57
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:

32
mitochondrial complex iv deficiency:
Inheritance heterogeneous autosomal recessive inheritance mitochondrial inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Mitochondrial Complex Iv Deficiency

NIH Rare Diseases : 53 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 leigh syndrome and cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, and has symptoms including ataxia, dyspnea and seizures. 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 Ubiquinone 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

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 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.

Wikipedia : 76 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 all 33)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 29.2 COX10 COX20 COX5A COX6B1 MT-CO1 MT-CO2
2 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 12.7
3 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 12.7
4 leigh syndrome, french canadian type 11.8
5 mitochondrial myopathy, infantile, transient 11.7
6 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 11.1
7 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 11.1
8 charcot-marie-tooth disease, type 4k 11.1
9 genetic recurrent myoglobinuria 10.8 MT-CO1 MT-CO3
10 fatal infantile encephalocardiomyopathy 10.8 COX10 MT-CO1
11 acquired idiopathic sideroblastic anemia 10.7 COX5A MT-CO1
12 sideroblastic anemia acquired 10.7 MT-CO1 MT-CO2
13 myoglobinuria, recurrent 10.6 COX5A MT-CO1 MT-CO2
14 deafness, nonsyndromic sensorineural, mitochondrial 10.6 MT-CO1 MT-CO2 MT-CO3
15 leber optic atrophy 10.6 MT-CO1 MT-CO2 MT-CO3
16 cardioencephalomyopathy 10.6 COX5A SCO1 SURF1
17 familial colorectal cancer 10.6 MT-CO1 MT-CO2 MT-CO3
18 cardiomyopathy, infantile hypertrophic 10.6 MT-CO2 MT-CO3
19 epilepsy, familial temporal lobe, 2 10.5 MT-CO1 MT-CO3
20 mitochondrial dna depletion syndrome 1 10.4 MT-CO2 MT-CO3
21 mitochondrial dna-associated leigh syndrome and narp 10.3 MT-CO3 MT-TL1
22 leigh syndrome with leukodystrophy 10.2 PET100 SURF1 TACO1
23 kearns-sayre syndrome 10.1 COX5A MT-CO1 MT-CO2 MT-TL1
24 maternally-inherited progressive external ophthalmoplegia 10.0 MT-TL1 MT-TN
25 mitochondrial dna depletion syndrome 9 9.9
26 lactic acidosis 9.9
27 mitochondrial myopathy 9.9 COX5A MT-CO1 MT-CO2 MT-CO3 MT-TL1
28 diphyllobothriasis 9.8 MT-CO1 MT-TL1
29 hydrocephalus 9.8
30 encephalomyopathy 9.8
31 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 FASTKD2 MT-CO1 MT-CO2 MT-CO3 MT-TL1
32 mitochondrial encephalomyopathy 9.8 FASTKD2 MT-CO1 MT-CO2 MT-CO3 MT-TL1
33 mitochondrial disorders 9.7 COX10 COX5A MT-CO2 MT-TL1 SCO1 SURF1

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mitochondrial Complex Iv Deficiency:

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

UMLS symptoms related to Mitochondrial Complex Iv Deficiency:


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

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency

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


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

41
Liver, Skeletal Muscle, Brain, Heart, Smooth Muscle

Publications for Mitochondrial Complex Iv Deficiency

Articles related to Mitochondrial Complex Iv Deficiency:

(show top 50) (show all 118)
# Title Authors Year
1
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. ( 27683825 )
2016
2
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. ( 27539578 )
2016
3
Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6. ( 25766330 )
2015
4
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. ( 25293719 )
2014
5
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. ( 25175347 )
2014
6
Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy. ( 25339201 )
2014
7
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. ( 24781756 )
2014
8
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. ( 24161539 )
2014
9
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. ( 24956508 )
2014
10
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations. ( 22465034 )
2012
11
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency. ( 22592081 )
2012
12
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. ( 21266382 )
2011
13
Subthalamic nuclei involvement in Leigh disease with cytochrome c oxidase deficiency. ( 21748946 )
2011
14
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. ( 20484224 )
2010
15
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. ( 19837698 )
2010
16
Major arc mitochondrial DNA deletions in cytochrome c oxidase-deficient human cochlear spiral ganglion cells. ( 20085441 )
2010
17
Cytochrome c oxidase deficiency: patients and animal models. ( 19682572 )
2010
18
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. ( 19373256 )
2009
19
Isolated cytochrome c oxidase deficiency as a cause of MELAS. ( 21686692 )
2009
20
The alternative oxidase, a tool for compensating cytochrome c oxidase deficiency in human cells. ( 19493305 )
2009
21
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. ( 19503089 )
2009
22
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. ( 19720722 )
2009
23
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells. ( 20049701 )
2009
24
Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene. ( 18254779 )
2008
25
Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein. ( 18334481 )
2008
26
Isolated cytochrome c oxidase deficiency as a cause of MELAS. ( 18245391 )
2008
27
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. ( 18771761 )
2008
28
Craniofacial abnormalities in a patient with cytochrome-c-oxidase deficiency subsequently developing Kearns-Sayre syndrome. ( 17625486 )
2007
29
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. ( 17187620 )
2007
30
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report. ( 16601896 )
2006
31
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. ( 16326995 )
2006
32
Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation. ( 16773507 )
2006
33
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations. ( 16225813 )
2005
34
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. ( 15863660 )
2005
35
Cytochrome c oxidase deficiency in a child with isolated myopathy. ( 16338876 )
2005
36
Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy. ( 16198107 )
2005
37
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency. ( 16103131 )
2005
38
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. ( 15596615 )
2004
39
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. ( 15499950 )
2004
40
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. ( 14662656 )
2004
41
Mutation screening in patients with isolated cytochrome c oxidase deficiency. ( 12538779 )
2003
42
Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency. ( 14681757 )
2003
43
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. ( 12566387 )
2003
44
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. ( 12529507 )
2003
45
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. ( 14557577 )
2003
46
Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. ( 12776230 )
2003
47
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. ( 12020273 )
2002
48
The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease. ( 12366820 )
2002
49
Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. ( 12408186 )
2002
50
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. ( 12026244 )
2002

Variations for Mitochondrial Complex Iv Deficiency

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

75 (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 595)
# 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 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
14 MT-TL1 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_001863.4(COX6B1): c.59G> A (p.Arg20His) single nucleotide variant Pathogenic rs121909602 GRCh37 Chromosome 19, 36142204: 36142204
39 COX6B1 NM_001863.4(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 APOPT1 NM_032374.4(APOPT1): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs587777784 GRCh38 Chromosome 14, 103571695: 103571695

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:

37
# 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
13.84 COX10 COX14 COX20 COX5A COX6B1 COX8A
2
Show member pathways
13.5 COX14 COX20 COX5A COX6B1 COX8A MT-CO1
3
Show member pathways
13.26 COA3 COA7 COX10 COX14 COX20 COX5A
4
Show member pathways
12.52 COX14 COX20 COX5A COX6B1 COX8A MT-CO1
5
Show member pathways
11.9 COX10 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 10.25 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 9.7 COA3 COX10 COX20 COX5A COX6B1 COX8A
2 mitochondrial respiratory chain complex IV GO:0005751 9.55 COX5A COX8A MT-CO1 MT-CO2 MT-CO3
3 mitochondrion GO:0005739 9.55 APOPT1 COA3 COA7 COX10 COX14 COX20
4 integral component of mitochondrial inner membrane GO:0031305 9.5 COA3 PET100 SCO1
5 respiratory chain complex IV GO:0045277 9.43 MT-CO1 MT-CO2 MT-CO3

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

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.77 COX5A COX8A MT-CO1 MT-CO2 SURF1
2 proton transmembrane transport GO:1902600 9.76 COX10 COX5A COX6B1 COX8A MT-CO1 MT-CO2
3 aerobic respiration GO:0009060 9.65 COX10 COX20 MT-CO1 MT-CO3 SURF1
4 respiratory chain complex IV assembly GO:0008535 9.62 COX10 MT-CO3 SCO1 SURF1
5 mitochondrial respiratory chain complex IV assembly GO:0033617 9.5 COA3 COX14 COX20 PET100 PET117 SCO1
6 cellular respiration GO:0045333 9.46 COX10 FASTKD2
7 respiratory electron transport chain GO:0022904 9.43 MT-CO1 MT-CO3
8 oxidative phosphorylation GO:0006119 9.4 MT-CO1 SURF1
9 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.17 COX10 COX5A COX6B1 COX8A MT-CO1 MT-CO2

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 9.23 COX10 COX5A COX6B1 COX8A MT-CO1 MT-CO2
2 electron transfer activity GO:0009055 9.13 COX5A MT-CO1 MT-CO3

Sources for Mitochondrial Complex Iv Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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