MC4DN1
MCID: MTC205
MIFTS: 57

Mitochondrial Complex Iv Deficiency, Nuclear Type 1 (MC4DN1)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

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

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

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 1 57
Mitochondrial Complex Iv Deficiency 57 12 20 43 72 29 6
Cytochrome C Oxidase Deficiency 57 73 20 43 72 13 54
Cox Deficiency 57 20 43 72
Cytochrome-C Oxidase Deficiency 43 44 70
Mc1dn4 57 12 72
Complex 4 Mitochondrial Respiratory Chain Deficiency 20 72
Mitochondrial Complex I Deficiency, Nuclear Type 4 57 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 4 29 6
Cytochrome-C Oxidase Deficiency Disease 12 15
Complex Iv Deficiency 20 43
Lethal Neonatal Cardiomyopathy Hypertrophic Due to Cytochrome C Oxidase Deficiency 72
Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency 58
Deficiency of Mitochondrial Respiratory Chain Complex4 20
Complex Iv Mitochondrial Respiratory Chain Deficiency 72
Nuclear Type Mitochondrial Complex I Deficiency 4 12
Isolated Cytochrome C Oxidase Deficiency 58
Deficiency, Mitochondrial Complex Iv 39
Cytochrome C Oxidase Deficiency 36
Isolated Cox Deficiency 58
Mc4dn1 57
Mt-C4d 72

Characteristics:

Orphanet epidemiological data:

58
isolated cytochrome c oxidase deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
rapidly progressive
onset usually between about 5 and 18 months
death in childhood often occurs

Inheritance:
autosomal recessive


HPO:

31
mitochondrial complex iv deficiency, nuclear type 1:
Inheritance autosomal recessive inheritance heterogeneous mitochondrial inheritance

mitochondrial complex i deficiency, nuclear type 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

MedlinePlus Genetics : 43 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.The severity of cytochrome c oxidase deficiency varies widely among affected individuals, even among those in the same family. People who are mildly affected tend to have muscle weakness (myopathy) and poor muscle tone (hypotonia) with no other related health problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome c oxidase deficiency have a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Another possible feature of this condition is an enlarged liver (hepatomegaly), which may lead to liver failure. Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can cause nausea and an irregular heart rate, and can be life-threatening.Many people with cytochrome c oxidase deficiency have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome.Many individuals with cytochrome c oxidase deficiency do not survive past childhood, although some individuals with mild signs and symptoms live into adolescence or adulthood.

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 1, also known as mitochondrial complex iv deficiency, is related to fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency and mitochondrial myopathy, infantile, transient, and has symptoms including seizures, ataxia and muscle weakness. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 1 is NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1), and among its related pathways/superpathways are Oxidative phosphorylation and Porphyrin and chlorophyll metabolism. Affiliated tissues include liver, heart and brain, and related phenotypes are intellectual disability and failure to thrive

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.

GARD : 20 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.

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by Tiranti et al., 1998; Tiranti et al., 1999; Teraoka et al., 1999; Poyau et al., 2000) (220110) (Updated 05-Apr-2021)

KEGG : 36 Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex IV). Since COX is encoded by nuclear and mitochondrial genes, COX deficiency can be inherited in either an autosomal recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy.

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 4: 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. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance.
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 : 73 The enzyme cytochrome c oxidase or Complex IV, EC 1.9.3.1, is a large transmembrane protein complex... more...

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

(show top 50) (show all 204)
# Related Disease Score Top Affiliating Genes
1 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 33.3 SURF1 SCO1 COX5A COX10
2 mitochondrial myopathy, infantile, transient 33.0 MT-CO3 MT-CO1
3 charcot-marie-tooth disease, type 4k 32.3 SURF1 PET100
4 leigh syndrome 31.6 TACO1 SURF1 SCO1 PET100 NDUFV1 MT-TL1
5 mitochondrial metabolism disease 31.4 TACO1 SURF1 NDUFV1 COX10
6 lactic acidosis 31.2 SURF1 PET100 NDUFV1 MT-TL1 MT-CO3 MT-CO2
7 kearns-sayre syndrome 31.1 SURF1 MT-TL1 MT-CO3 MT-CO2 MT-CO1 COX5A
8 mitochondrial encephalomyopathy 31.1 SURF1 MT-TL1 MT-CO3 MT-CO2 MT-CO1 FASTKD2
9 cardioencephalomyopathy 31.1 SURF1 SCO1 COX5A
10 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 31.0 MT-TN MT-TL1 MT-CO1
11 chronic progressive external ophthalmoplegia 30.9 SURF1 MT-TN MT-TL1 MT-CO3 MT-CO1 COX5A
12 hypertrophic cardiomyopathy 30.8 SCO1 MT-TL1 MT-CO3 MT-CO2 MT-CO1 COX6B1
13 cardiomyopathy, infantile hypertrophic 30.7 SURF1 COX6B1 COX10
14 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.6 SURF1 MT-TN MT-TL1 MT-CO3 MT-CO2 MT-CO1
15 optic nerve disease 30.4 MT-CO3 MT-CO1 COX4I1
16 myopathy 30.4 NDUFV1 MT-TN MT-TL1 MT-CO3 MT-CO2 MT-CO1
17 mitochondrial dna depletion syndrome 4a 30.3 SURF1 MT-CO3 COX5A
18 myoglobinuria, recurrent 30.2 MT-CO1 COX5A
19 mitochondrial myopathy 30.1 SURF1 NDUFV1 MT-TL1 MT-CO3 MT-CO2 MT-CO1
20 mitochondrial disorders 30.0 SURF1 SCO1 NDUFV1 MT-TN MT-TL1 MT-CO3
21 mitochondrial complex iv deficiency, nuclear type 7 11.7
22 mitochondrial complex iv deficiency, nuclear type 9 11.7
23 mitochondrial complex iv deficiency, nuclear type 4 11.7
24 mitochondrial complex iv deficiency, nuclear type 8 11.7
25 mitochondrial complex iv deficiency, nuclear type 10 11.7
26 mitochondrial complex iv deficiency, nuclear type 11 11.7
27 mitochondrial complex iv deficiency, nuclear type 12 11.7
28 mitochondrial complex iv deficiency, nuclear type 14 11.7
29 mitochondrial complex iv deficiency, nuclear type 15 11.7
30 mitochondrial complex iv deficiency, nuclear type 16 11.7
31 mitochondrial complex iv deficiency, nuclear type 17 11.7
32 mitochondrial complex iv deficiency, nuclear type 18 11.7
33 mitochondrial complex iv deficiency, nuclear type 19 11.7
34 mitochondrial complex iv deficiency, nuclear type 20 11.7
35 mitochondrial complex iv deficiency, nuclear type 21 11.7
36 mitochondrial complex iv deficiency, nuclear type 5 11.6
37 mitochondrial complex iv deficiency, nuclear type 2 11.6
38 mitochondrial complex iv deficiency, nuclear type 6 11.6
39 mitochondrial complex iv deficiency, nuclear type 13 11.6
40 mitochondrial complex iii deficiency, nuclear type 4 11.5
41 leigh syndrome with cardiomyopathy 11.4
42 fars2 deficiency 11.3
43 hypotonia 10.7
44 encephalopathy 10.6
45 neuropathy 10.5
46 peripheral nervous system disease 10.4
47 gnathomiasis 10.4 MT-TN MT-CO1
48 diphyllobothriasis 10.4 MT-TL1 MT-CO1
49 genetic recurrent myoglobinuria 10.4 MT-CO3 MT-CO1
50 myasthenic syndrome, congenital, 10 10.4 MT-CO3 MT-CO2 MT-CO1

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



Diseases related to Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

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

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 ptosis 31 HP:0000508
4 ataxia 31 HP:0001251
5 high palate 31 HP:0000218
6 developmental regression 31 HP:0002376
7 global developmental delay 31 HP:0001263
8 hepatomegaly 31 HP:0002240
9 sensorineural hearing impairment 31 HP:0000407
10 optic atrophy 31 HP:0000648
11 proteinuria 31 HP:0000093
12 vomiting 31 HP:0002013
13 aminoaciduria 31 HP:0003355
14 anemia 31 HP:0001903
15 myoclonus 31 HP:0001336
16 strabismus 31 HP:0000486
17 hypertrophic cardiomyopathy 31 HP:0001639
18 respiratory insufficiency due to muscle weakness 31 HP:0002747
19 motor delay 31 HP:0001270
20 ophthalmoplegia 31 HP:0000602
21 increased serum lactate 31 HP:0002151
22 apnea 31 HP:0002104
23 lethargy 31 HP:0001254
24 leukoencephalopathy 31 HP:0002352
25 increased csf lactate 31 HP:0002490
26 lactic acidosis 31 HP:0003128
27 metabolic acidosis 31 HP:0001942
28 respiratory distress 31 HP:0002098
29 pigmentary retinopathy 31 HP:0000580
30 generalized hypotonia 31 HP:0001290
31 exertional dyspnea 31 HP:0002875
32 brain atrophy 31 HP:0012444
33 glycosuria 31 HP:0003076
34 renal fanconi syndrome 31 HP:0001994
35 decreased liver function 31 HP:0001410
36 hyperphosphaturia 31 HP:0003109
37 increased intramyocellular lipid droplets 31 HP:0012240
38 increased hepatocellular lipid droplets 31 HP:0006565
39 exercise intolerance 31 HP:0003546
40 weakness of facial musculature 31 HP:0030319
41 cytochrome c oxidase-negative muscle fibers 31 HP:0003688
42 seizure 31 HP:0001250
43 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
ataxia
tremor
dystonia
increased csf lactate
brisk reflexes
more
Laboratory Abnormalities:
increased serum lactate
increased csf lactate
decreased activity of cytochrome c oxidase in patient tissues

Respiratory:
central hypoventilation
apneic episodes

Cardiovascular Heart:
cardiomyopathy (rare)

Head And Neck Eyes:
nystagmus
strabismus
ophthalmoplegia
slow saccades
oculomotor abnormalities

Muscle Soft Tissue:
muscle weakness
hypotonia
decrease or absence of cytochrome c oxidase seen on muscle biopsy

Metabolic Features:
lactic acidosis

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Clinical features from OMIM®:

220110 618225 (Updated 05-Apr-2021)

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


seizures; ataxia; muscle weakness; dyspnea; dyspnea on exertion

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.02 COX10 COX4I1 COX5A COX6B1 NDUFV1

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

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

Cochrane evidence based reviews: cytochrome-c oxidase deficiency

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iv Deficiency 29 SURF1
2 Mitochondrial Complex 1 Deficiency, Nuclear Type 4 29 NDUFV1

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

40
Liver, Heart, Brain, Eye, Cerebellum, Skeletal Muscle, Skin

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

(show top 50) (show all 166)
# Title Authors PMID Year
1
A SURF1 gene mutation presenting as isolated leukodystrophy. 57 6 54
11409433 2001
2
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 54 6 57
10647889 1999
3
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 6 57 54
9837813 1998
4
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6 57
16326995 2006
5
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. 57 6
15214016 2004
6
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 57 6
10746561 2000
7
Leigh syndrome transmitted by uniparental disomy of chromosome 9. 6 57
10636738 1999
8
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 57 6
9843204 1998
9
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. 6 61
24781756 2015
10
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. 57 54
14557577 2003
11
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. 6 54
11317352 2001
12
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 54 57
11013136 2000
13
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. 54 57
10443880 1999
14
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
15
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. 6
28766551 2017
16
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 6
27296531 2016
17
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. 6
26685157 2016
18
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 6
26345448 2015
19
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. 6
25293719 2015
20
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. 6
25604084 2015
21
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. 57
23575228 2013
22
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 6
23243073 2013
23
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
24
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 6
20610441 2010
25
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 6
20697048 2010
26
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
27
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 6
19503089 2009
28
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 6
19349610 2009
29
Protean phenotypic features of the A3243G mitochondrial DNA mutation. 6
19139304 2009
30
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. 6
18753147 2008
31
Pathogenic mitochondrial DNA mutations are common in the general population. 6
18674747 2008
32
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 6
18499082 2008
33
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 6
18306232 2008
34
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. 6
18252214 2008
35
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons. 6
17656376 2007
36
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 6
17823937 2007
37
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. 6
17564976 2007
38
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. 6
16950816 2007
39
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 6
17172609 2006
40
Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. 6
17018649 2006
41
A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure. 6
16908752 2006
42
DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF. 6
16336784 2005
43
Hypertrichosis in patients with SURF1 mutations. 57
16222681 2005
44
MELAS A3243G mitochondrial DNA mutation and age related maculopathy. 6
15629304 2004
45
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation. 6
15032978 2004
46
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting. 6
12905015 2003
47
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. 6
12612863 2003
48
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. 57
12566387 2003
49
Mutation screening in patients with isolated cytochrome c oxidase deficiency. 57
12538779 2003
50
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 6
12414820 2002

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

6 (show top 50) (show all 449)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-CO3 m.9487_9501delTCGCAGGATTTTTCT Deletion Pathogenic 9654 rs267606612 GRCh37: MT:9480-9494
GRCh38: MT:9480-9494
2 MT-CO3 m.9952G>A SNV Pathogenic 9655 rs267606613 GRCh37: MT:9952-9952
GRCh38: MT:9952-9952
3 MT-CO3 m.9379G>A SNV Pathogenic 9657 rs267606615 GRCh37: MT:9379-9379
GRCh38: MT:9379-9379
4 MT-CO2 m.7587T>C SNV Pathogenic 9658 rs199474825 GRCh37: MT:7587-7587
GRCh38: MT:7587-7587
5 MT-CO2 m.7671T>A SNV Pathogenic 9660 rs199474827 GRCh37: MT:7671-7671
GRCh38: MT:7671-7671
6 MT-CO2 m.8042_8043delAT Deletion Pathogenic 9661 rs199474828 GRCh37: MT:8042-8043
GRCh38: MT:8042-8043
7 MT-CO2 m.7896G>A SNV Pathogenic 9662 rs199474829 GRCh37: MT:7896-7896
GRCh38: MT:7896-7896
8 MT-CO1 m.6930G>A SNV Pathogenic 9668 rs28679680 GRCh37: MT:6930-6930
GRCh38: MT:6930-6930
9 COX6B1 NM_001863.5(COX6B1):c.59G>A (p.Arg20His) SNV Pathogenic 16875 rs121909602 GRCh37: 19:36142204-36142204
GRCh38: 19:35651302-35651302
10 COA3 NM_001040431.3(COA3):c.199dup (p.Leu67fs) Duplication Pathogenic 190477 rs757472611 GRCh37: 17:40950500-40950501
GRCh38: 17:42798482-42798483
11 COA3 NM_001040431.3(COA3):c.215A>G (p.Tyr72Cys) SNV Pathogenic 190478 rs139877390 GRCh37: 17:40950185-40950185
GRCh38: 17:42798167-42798167
12 COX8A NM_004074.3(COX8A):c.115-1G>C SNV Pathogenic 222973 rs869025575 GRCh37: 11:63743696-63743696
GRCh38: 11:63976224-63976224
13 COX4I1 NM_001861.6(COX4I1):c.303_304delinsTT (p.Lys101_Thr102delinsAsnSer) Indel Pathogenic 834062 GRCh37: 16:85839400-85839401
GRCh38: 16:85805794-85805795
14 MT-CO2 NC_012920.1:m.8088delT Deletion Pathogenic 488349 rs1556423388 GRCh37: MT:8087-8087
GRCh38: MT:8087-8087
15 FASTKD2 NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter) SNV Pathogenic 561009 rs755068980 GRCh37: 2:207652756-207652756
GRCh38: 2:206788032-206788032
16 FASTKD2 NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) SNV Pathogenic 641 rs118203917 GRCh37: 2:207638988-207638988
GRCh38: 2:206774264-206774264
17 MT-CO3 m.9537dupC Duplication Pathogenic 9656 rs267606614 GRCh37: MT:9531-9532
GRCh38: MT:9531-9532
18 MT-CO1 m.6480G>A SNV Pathogenic 9666 rs199476128 GRCh37: MT:6480-6480
GRCh38: MT:6480-6480
19 PET100 NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) SNV Pathogenic 128250 rs587779779 GRCh37: 19:7696362-7696362
GRCh38: 19:7631476-7631476
20 SURF1 NM_003172.4(SURF1):c.323+2T>C SNV Pathogenic 12758 rs1588691694 GRCh37: 9:136221512-136221512
GRCh38: 9:133354657-133354657
21 SURF1 SURF1, 2-BP DEL, 855CT Deletion Pathogenic 12760 GRCh37:
GRCh38:
22 SURF1 SURF1, 1-BP INS, 882T Insertion Pathogenic 12761 GRCh37:
GRCh38:
23 SURF1 SURF1, 1-BP INS, 868T Insertion Pathogenic 12763 GRCh37:
GRCh38:
24 SURF1 NM_003172.4(SURF1):c.515+2T>G SNV Pathogenic 12764 rs781787822 GRCh37: 9:136220602-136220602
GRCh38: 9:133353747-133353747
25 SURF1 NM_003172.4(SURF1):c.550_551del (p.Arg184fs) Deletion Pathogenic 12765 rs1588689993 GRCh37: 9:136219586-136219587
GRCh38: 9:133352731-133352732
26 SURF1 NM_003172.4(SURF1):c.820T>G (p.Tyr274Asp) SNV Pathogenic 12766 rs121918658 GRCh37: 9:136218929-136218929
GRCh38: 9:133352074-133352074
27 SURF1 NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) SNV Pathogenic 12768 rs28933402 GRCh37: 9:136220748-136220748
GRCh38: 9:133353893-133353893
28 SURF1 SURF1, 4-BP INS, 572CCCT Insertion Pathogenic 12769 GRCh37:
GRCh38:
29 SURF1 NM_003172.4(SURF1):c.679T>C (p.Trp227Arg) SNV Pathogenic 29897 rs398122806 GRCh37: 9:136219373-136219373
GRCh38: 9:133352518-133352518
30 SURF1 SURF1, 765C-T SNV Pathogenic 12757 GRCh37:
GRCh38:
31 SURF1 NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) Indel Pathogenic 215237 rs863224228 GRCh37: 9:136221516-136221525
GRCh38: 9:133354661-133354670
32 SURF1 NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) SNV Pathogenic 12762 rs121918657 GRCh37: 9:136219301-136219301
GRCh38: 9:133352446-133352446
33 NDUFV1 NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) SNV Pathogenic 14057 rs768050261 GRCh37: 11:67376042-67376042
GRCh38: 11:67608571-67608571
34 NDUFV1 NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) SNV Pathogenic 14059 rs121913661 GRCh37: 11:67377981-67377981
GRCh38: 11:67610510-67610510
35 NDUFV1 NM_007103.4(NDUFV1):c.1162+4A>C SNV Pathogenic 372716 rs199683937 GRCh37: 11:67379453-67379453
GRCh38: 11:67611982-67611982
36 PET100 NM_001171155.2(PET100):c.3G>C (p.Met1Ile) SNV Pathogenic 125441 rs587777839 GRCh37: 19:7694722-7694722
GRCh38: 19:7629836-7629836
37 COX10 NM_001303.4(COX10):c.1007A>T (p.Asp336Val) SNV Pathogenic 7525 rs104894557 GRCh37: 17:14110205-14110205
GRCh38: 17:14206888-14206888
38 NDUFV1 NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) SNV Pathogenic 14056 rs121913659 GRCh37: 11:67379696-67379696
GRCh38: 11:67612225-67612225
39 SURF1 NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) Microsatellite Pathogenic 12770 rs782316919 GRCh37: 9:136218825-136218826
GRCh38: 9:133351970-133351971
40 MT-TN m.5728T>C SNV Pathogenic 9622 rs199476132 GRCh37: MT:5728-5728
GRCh38: MT:5728-5728
41 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
42 SURF1 NM_003172.4(SURF1):c.790_791AG[1] (p.Arg264fs) Microsatellite Pathogenic 215238 rs782490558 GRCh37: 9:136218956-136218957
GRCh38: 9:133352101-133352102
43 SCO1 NM_004589.4(SCO1):c.835C>T (p.Gln279Ter) SNV Pathogenic 1028272 GRCh37: 17:10584507-10584507
GRCh38: 17:10681190-10681190
44 COA8 NM_001370595.2(COA8):c.-10dup Duplication Pathogenic 1030024 GRCh37: 14:104029324-104029325
GRCh38: 14:103562987-103562988
45 TACO1 NM_016360.4(TACO1):c.97dup (p.Arg33fs) Duplication Pathogenic 1033410 GRCh37: 17:61678534-61678535
GRCh38: 17:63601175-63601176
46 SCO1 NM_004589.4(SCO1):c.261del (p.Ser88fs) Deletion Pathogenic 418798 rs770131276 GRCh37: 17:10600564-10600564
GRCh38: 17:10697247-10697247
47 SCO1 NM_004589.4(SCO1):c.263dup (p.Lys89fs) Duplication Pathogenic 1034098 GRCh37: 17:10600561-10600562
GRCh38: 17:10697244-10697245
48 COX6B1 NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) SNV Likely pathogenic 217745 rs778740017 GRCh37: 19:36142203-36142203
GRCh38: 19:35651301-35651301
49 TACO1 NM_016360.4(TACO1):c.472dup (p.His158fs) Duplication Likely pathogenic 411 rs587776513 GRCh37: 17:61683755-61683756
GRCh38: 17:63606395-63606396
50 NDUFV1 NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu) SNV Likely pathogenic 976668 GRCh37: 11:67376115-67376115
GRCh38: 11:67608644-67608644

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

72 (show all 16)
# 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 NDUFV1 p.Ala341Val VAR_008846 rs121913660
14 NDUFV1 p.Thr423Met VAR_008847 rs121913659
15 NDUFV1 p.Glu214Lys VAR_019534 rs121913661
16 SCO1 p.Pro174Leu VAR_012109 rs104894630

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

36
# 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, Nuclear Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 TACO1 SURF1 SCO1 NDUFV1 MT-CO3 MT-CO2
2
Show member pathways
13.58 TACO1 SURF1 SCO1 MT-CO3 MT-CO2 MT-CO1
3
Show member pathways
13.24 NDUFV1 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1
4
Show member pathways
12.96 TACO1 SURF1 SCO1 NDUFV1 MT-CO3 MT-CO2
5
Show member pathways
12.75 TACO1 SURF1 SCO1 MT-CO3 MT-CO2 MT-CO1
6
Show member pathways
12.64 NDUFV1 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1
7
Show member pathways
12.04 COX8A COX6B1 COX5A COX4I1 COX10
8 11.74 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1 COX5A
9 11.33 TACO1 SURF1 SCO1 MT-CO3 MT-CO2 MT-CO1
10 10.32 COX8A COX5A

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 SURF1 SCO1 PET100 NDUFV1 MT-CO3 MT-CO2
2 integral component of membrane GO:0016021 10.21 SURF1 SCO1 PET100 MT-CO3 MT-CO2 MT-CO1
3 mitochondrial inner membrane GO:0005743 9.83 SURF1 SCO1 NDUFV1 MT-CO3 MT-CO2 MT-CO1
4 mitochondrial membrane GO:0031966 9.63 COX4I1 COX14 COX10
5 mitochondrion GO:0005739 9.58 TACO1 SURF1 SCO1 PET100 NDUFV1 MT-CO3
6 respiratory chain complex IV GO:0045277 9.55 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1
7 respiratory chain GO:0070469 9.54 NDUFV1 MT-CO2 MT-CO1
8 integral component of mitochondrial inner membrane GO:0031305 9.5 SCO1 PET100 COA3
9 mitochondrial respiratory chain complex IV GO:0005751 9.43 MT-CO1 COX5A COX4I1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 SURF1 NDUFV1 MT-CO2 MT-CO1 COX4I1
2 electron transport chain GO:0022900 9.85 SURF1 MT-CO2 MT-CO1 COX8A COX5A COX4I1
3 proton transmembrane transport GO:1902600 9.81 SURF1 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1
4 oxidative phosphorylation GO:0006119 9.73 SURF1 MT-CO1 COX8A COX6B1 COX5A COX4I1
5 aerobic respiration GO:0009060 9.71 SURF1 MT-CO3 MT-CO1 COX10
6 respiratory chain complex IV assembly GO:0008535 9.62 SURF1 SCO1 MT-CO3 COX10
7 mitochondrial respiratory chain complex IV assembly GO:0033617 9.56 TACO1 SURF1 SCO1 PET100 COX20 COX14
8 respiratory electron transport chain GO:0022904 9.46 MT-CO3 MT-CO1
9 positive regulation of mitochondrial translation GO:0070131 9.43 FASTKD2 COA3
10 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.23 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1 COX5A

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 9.28 SURF1 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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