MC4DN1
MCID: MTC205
MIFTS: 58

Mitochondrial Complex Iv Deficiency, Nuclear Type 1 (MC4DN1)

Categories: Genetic diseases, Metabolic diseases, Rare diseases
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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 73
Cytochrome C Oxidase Deficiency 57 19 42 75 73 12 53
Mitochondrial Complex Iv Deficiency 57 11 19 42 73 38
Cytochrome-C Oxidase Deficiency Disease 11 28 5 14
Cox Deficiency 57 19 42 73
Cytochrome-C Oxidase Deficiency 42 43 71
Mc1dn4 57 11 73
Complex 4 Mitochondrial Respiratory Chain Deficiency 19 73
Mitochondrial Complex I Deficiency, Nuclear Type 4 57 73
Mitochondrial Complex 1 Deficiency, Nuclear Type 4 28 5
Complex Iv Deficiency 19 42
Mc4dn1 57 73
Lethal Neonatal Cardiomyopathy Hypertrophic Due to Cytochrome C Oxidase Deficiency 73
Deficiency of Mitochondrial Respiratory Chain Complex4 19
Complex Iv Mitochondrial Respiratory Chain Deficiency 73
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1 38
Nuclear Type Mitochondrial Complex I Deficiency 4 11
Mt-C4d 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
rapidly progressive
onset usually between about 5 and 18 months
death in childhood often occurs


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

MedlinePlus Genetics: 42 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 cytochrome c oxidase deficiency, is related to fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency and mitochondrial myopathy, infantile, transient, and has symptoms including ataxia, muscle weakness and dyspnea. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 1 is SURF1 (SURF1 Cytochrome C Oxidase Assembly Factor), and among its related pathways/superpathways are Gene expression (Transcription) and Metabolism. Affiliated tissues include liver, brain and heart, and related phenotypes are failure to thrive and developmental regression

UniProtKB/Swiss-Prot 73 Mitochondrial complex iv deficiency, nuclear type 1: An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure.

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 intellectual disability. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.

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.

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 08-Dec-2022)

GARD: 19 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 genetic changes in any of at least 14 genes; the inheritance pattern depends on the gene involved.

Disease Ontology 11 Nuclear type mitochondrial complex i deficiency 4: A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2.

Cytochrome-c oxidase deficiency disease: 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.

Wikipedia: 75 The enzyme cytochrome c oxidase or Complex IV, (was EC 1.9.3.1, now reclassified as a translocase EC... 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 235)
# Related Disease Score Top Affiliating Genes
1 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 33.4 TACO1 SURF1 SCO2 SCO1 COX15 COX10
2 mitochondrial myopathy, infantile, transient 33.2 MT-CO3 MT-CO2 MT-CO1
3 leigh syndrome with cardiomyopathy 32.7 SURF1 SCO2
4 leigh syndrome 32.5 TACO1 SURF1 SCO2 SCO1 PET100 NDUFV1
5 charcot-marie-tooth disease, type 4k 32.4 TACO1 SURF1 COX15 COX10 COA8
6 lactic acidosis 31.6 SURF1 SCO2 NDUFV1 MT-TL1 MT-CO3 MT-CO2
7 mitochondrial encephalomyopathy 31.3 SURF1 NDUFV1 MT-TS1 MT-TL1 MT-CO3 MT-CO2
8 kearns-sayre syndrome 31.3 SURF1 SCO2 NDUFV1 MT-TL1 MT-CO3 MT-CO2
9 chronic progressive external ophthalmoplegia 31.2 SURF1 MT-TL1 MT-CO3 MT-CO1
10 hypertrophic cardiomyopathy 31.1 SURF1 SCO2 SCO1 MT-TL1 MT-CO3 MT-CO2
11 3-methylglutaconic aciduria, type iii 31.0 SCO2 MT-TS1 MT-CO2 MT-CO1 COX6B1 COX15
12 early myoclonic encephalopathy 31.0 NDUFV1 MT-TS1 MT-TL1
13 metabolic acidosis 31.0 SCO1 PET100 COX6B1 COX10
14 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.8 SURF1 SCO2 SCO1 MT-TS1 MT-TN MT-TL1
15 mitochondrial dna depletion syndrome 9 30.7 SCO1 PET100
16 myopathy 30.7 NDUFV1 MT-TL1 MT-CO3 MT-CO2 MT-CO1 COX10
17 myoclonic epilepsy associated with ragged-red fibers 30.7 SURF1 SCO2 MT-TS1 MT-TN MT-TL1 MT-CO3
18 mitochondrial disease 30.6 SURF1 SCO2 MT-TS1 MT-TN MT-TL1 MT-CO3
19 optic nerve disease 30.6 SURF1 MT-TL1 MT-CO3 MT-CO1
20 cardiomyopathy, infantile hypertrophic 30.6 SURF1 SCO2 COX6B1 COX15 COX10
21 isolated cytochrome c oxidase deficiency 30.4 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1 COX4I1
22 mitochondrial dna depletion syndrome 4a 30.3 SURF1 SCO2 MT-TL1 MT-CO3 MT-CO2
23 mitochondrial myopathy 30.2 SURF1 SCO2 MT-TS1 MT-TL1 MT-CO3 MT-CO2
24 deafness, nonsyndromic sensorineural, mitochondrial 30.2 MT-TS1 MT-CO1
25 mitochondrial complex iv deficiency, nuclear type 9 11.8
26 mitochondrial complex iv deficiency, nuclear type 13 11.7
27 mitochondrial complex iii deficiency, nuclear type 4 11.7
28 mitochondrial complex iv deficiency, nuclear type 20 11.7
29 mitochondrial complex iv deficiency, nuclear type 22 11.7
30 mitochondrial complex iv deficiency, nuclear type 7 11.7
31 mitochondrial complex iv deficiency, nuclear type 5 11.7
32 mitochondrial complex iv deficiency, nuclear type 2 11.7
33 mitochondrial complex iv deficiency, nuclear type 6 11.7
34 mitochondrial complex iv deficiency, nuclear type 4 11.7
35 mitochondrial complex iv deficiency, nuclear type 8 11.7
36 mitochondrial complex iv deficiency, nuclear type 10 11.7
37 mitochondrial complex iv deficiency, nuclear type 11 11.7
38 mitochondrial complex iv deficiency, nuclear type 12 11.7
39 mitochondrial complex iv deficiency, nuclear type 14 11.7
40 mitochondrial complex iv deficiency, nuclear type 15 11.7
41 mitochondrial complex iv deficiency, nuclear type 16 11.7
42 mitochondrial complex iv deficiency, nuclear type 17 11.7
43 mitochondrial complex iv deficiency, nuclear type 18 11.7
44 mitochondrial complex iv deficiency, nuclear type 19 11.7
45 mitochondrial complex iv deficiency, nuclear type 21 11.7
46 congenital lactic acidosis, saguenay-lac-saint-jean type 11.4
47 hypotonia 10.7
48 encephalopathy 10.6
49 cardiomyopathy, familial hypertrophic, 1 10.5
50 neuropathy 10.5

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:

30 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 30 Very rare (1%) HP:0001508
2 developmental regression 30 Very rare (1%) HP:0002376
3 optic atrophy 30 Very rare (1%) HP:0000648
4 ophthalmoparesis 30 Very rare (1%) HP:0000597
5 respiratory failure 30 Very rare (1%) HP:0002878
6 lactic acidosis 30 Very rare (1%) HP:0003128
7 generalized hypotonia 30 Very rare (1%) HP:0001290
8 brisk reflexes 30 Very rare (1%) HP:0001348
9 truncal ataxia 30 Very rare (1%) HP:0002078
10 cytochrome c oxidase-negative muscle fibers 30 Very rare (1%) HP:0003688
11 intellectual disability 30 HP:0001249
12 seizure 30 HP:0001250
13 ptosis 30 HP:0000508
14 ataxia 30 HP:0001251
15 high palate 30 HP:0000218
16 global developmental delay 30 HP:0001263
17 hepatomegaly 30 HP:0002240
18 sensorineural hearing impairment 30 HP:0000407
19 proteinuria 30 HP:0000093
20 vomiting 30 HP:0002013
21 aminoaciduria 30 HP:0003355
22 anemia 30 HP:0001903
23 myoclonus 30 HP:0001336
24 strabismus 30 HP:0000486
25 hypertrophic cardiomyopathy 30 HP:0001639
26 respiratory insufficiency due to muscle weakness 30 HP:0002747
27 motor delay 30 HP:0001270
28 ophthalmoplegia 30 HP:0000602
29 increased serum lactate 30 HP:0002151
30 apnea 30 HP:0002104
31 lethargy 30 HP:0001254
32 leukoencephalopathy 30 HP:0002352
33 increased csf lactate 30 HP:0002490
34 metabolic acidosis 30 HP:0001942
35 respiratory distress 30 HP:0002098
36 weakness of facial musculature 30 HP:0030319
37 pigmentary retinopathy 30 HP:0000580
38 exertional dyspnea 30 HP:0002875
39 brain atrophy 30 HP:0012444
40 renal fanconi syndrome 30 HP:0001994
41 decreased liver function 30 HP:0001410
42 hyperphosphaturia 30 HP:0003109
43 increased intramyocellular lipid droplets 30 HP:0012240
44 glycosuria 30 HP:0003076
45 increased hepatocellular lipid droplets 30 HP:0006565
46 exercise intolerance 30 HP:0003546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
ataxia
tremor
hypotonia
dystonia
increased csf lactate
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:
hypotonia
muscle weakness
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 08-Dec-2022)

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


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 COX10 COX4I1 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 Cytochrome-C Oxidase Deficiency Disease 28 SURF1
2 Mitochondrial Complex 1 Deficiency, Nuclear Type 4 28 NDUFV1

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

MalaCards : Liver, Brain, Heart, Cerebellum, Eye, Bone Marrow, Kidney
ODiseA: Blood And Bone Marrow, Kidney

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

(show top 50) (show all 727)
# Title Authors PMID Year
1
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 53 62 57 5
10647889 1999
2
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 53 62 57 5
9837813 1998
3
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 62 57 5
16326995 2006
4
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. 62 57 5
15214016 2004
5
A SURF1 gene mutation presenting as isolated leukodystrophy. 53 57 5
11409433 2001
6
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 62 57 5
10746561 2000
7
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 62 57 5
9843204 1998
8
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. 53 62 57
14557577 2003
9
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 53 62 57
11013136 2000
10
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. 53 62 57
10443880 1999
11
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. 62 5
26685157 2016
12
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. 62 5
25293719 2015
13
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. 62 5
25604084 2015
14
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. 62 5
24781756 2015
15
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 62 5
24462369 2014
16
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. 62 57
23575228 2013
17
SURF1-associated Leigh syndrome: a case series and novel mutations. 62 5
22488715 2012
18
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 62 5
19503089 2009
19
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 62 5
18499082 2008
20
Mutation screening in patients with isolated cytochrome c oxidase deficiency. 62 57
12538779 2003
21
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. 62 57
12566387 2003
22
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. 62 5
11558799 2001
23
Cytochrome c oxidase deficiency. 62 57
11579424 2001
24
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. 62 5
10205264 1999
25
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency. 62 57
9932961 1999
26
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. 62 5
9832034 1998
27
Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. 62 5
9634511 1998
28
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. 62 57
9402980 1997
29
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. 62 57
9029077 1997
30
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. 62 5
8630495 1996
31
Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency. 62 57
8739953 1996
32
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. 62 57
8589677 1995
33
Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency. 62 57
8157021 1994
34
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. 62 5
1315123 1992
35
Autosomal recessive lethal infantile cytochrome C oxidase deficiency. 62 57
1852096 1991
36
Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation. 62 57
2540452 1989
37
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. 62 57
2834526 1988
38
Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy. 62 57
3027266 1987
39
Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment. 62 57
3016603 1986
40
Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency. 62 57
6313867 1983
41
Two siblings with cytochrome c oxidase deficiency. 62 57
6321854 1983
42
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. 62 57
6251406 1980
43
Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. 62 57
202917 1977
44
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms. 5
34807224 2021
45
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 5
32313153 2020
46
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. 5
29976978 2018
47
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia. 5
30090137 2018
48
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. 5
28766551 2017
49
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 5
27296531 2016
50
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 5
26345448 2015

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

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

5 (show top 50) (show all 468)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FASTKD2 NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) SNV Pathogenic
641 rs118203917 GRCh37: 2:207638988-207638988
GRCh38: 2:206774264-206774264
2 SURF1 NM_003172.4(SURF1):c.323+2T>C SNV Pathogenic
12758 rs1588691694 GRCh37: 9:136221512-136221512
GRCh38: 9:133354657-133354657
3 SURF1 NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) SNV Pathogenic
12762 rs121918657 GRCh37: 9:136219301-136219301
GRCh38: 9:133352446-133352446
4 SURF1 NM_003172.4(SURF1):c.515+2T>G SNV Pathogenic
12764 rs781787822 GRCh37: 9:136220602-136220602
GRCh38: 9:133353747-133353747
5 SURF1 NM_003172.4(SURF1):c.550_551del (p.Arg184fs) DEL Pathogenic
12765 rs1588689993 GRCh37: 9:136219586-136219587
GRCh38: 9:133352731-133352732
6 SURF1 NM_003172.4(SURF1):c.820T>G (p.Tyr274Asp) SNV Pathogenic
12766 rs121918658 GRCh37: 9:136218929-136218929
GRCh38: 9:133352074-133352074
7 NDUFV1 NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) SNV Pathogenic
14057 rs768050261 GRCh37: 11:67376042-67376042
GRCh38: 11:67608571-67608571
8 NDUFV1 NM_007103.4(NDUFV1):c.1162+4A>C SNV Pathogenic
372716 rs199683937 GRCh37: 11:67379453-67379453
GRCh38: 11:67611982-67611982
9 COX6B1 NM_001863.5(COX6B1):c.59G>A (p.Arg20His) SNV Pathogenic
16875 rs121909602 GRCh37: 19:36142204-36142204
GRCh38: 19:35651302-35651302
10 SURF1 NM_003172.4(SURF1):c.679T>C (p.Trp227Arg) SNV Pathogenic
29897 rs398122806 GRCh37: 9:136219373-136219373
GRCh38: 9:133352518-133352518
11 PET100 NM_001171155.2(PET100):c.3G>C (p.Met1Ile) SNV Pathogenic
125441 rs587777839 GRCh37: 19:7694722-7694722
GRCh38: 19:7629836-7629836
12 PET100 NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) SNV Pathogenic
128250 rs587779779 GRCh37: 19:7696362-7696362
GRCh38: 19:7631476-7631476
13 COX8A NM_004074.3(COX8A):c.115-1G>C SNV Pathogenic
222973 rs869025575 GRCh37: 11:63743696-63743696
GRCh38: 11:63976224-63976224
14 COA3 NM_001040431.3(COA3):c.199dup (p.Leu67fs) DUP Pathogenic
190477 rs757472611 GRCh37: 17:40950500-40950501
GRCh38: 17:42798482-42798483
15 COA3 NM_001040431.3(COA3):c.215A>G (p.Tyr72Cys) SNV Pathogenic
190478 rs139877390 GRCh37: 17:40950185-40950185
GRCh38: 17:42798167-42798167
16 COX4I1 NM_001861.6(COX4I1):c.303_304delinsTT (p.Lys101_Thr102delinsAsnSer) INDEL Pathogenic
834062 rs1906146144 GRCh37: 16:85839400-85839401
GRCh38: 16:85805794-85805795
17 FASTKD2 NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter) SNV Pathogenic
561009 rs755068980 GRCh37: 2:207652756-207652756
GRCh38: 2:206788032-206788032
18 COX10 NM_001303.4(COX10):c.1007A>T (p.Asp336Val) SNV Pathogenic
7525 rs104894557 GRCh37: 17:14110205-14110205
GRCh38: 17:14206888-14206888
19 TACO1 NM_016360.4(TACO1):c.97dup (p.Arg33fs) DUP Pathogenic
1033410 rs759254294 GRCh37: 17:61678534-61678535
GRCh38: 17:63601175-63601176
20 SCO1 NM_004589.4(SCO1):c.263dup (p.Lys89fs) DUP Pathogenic
1034098 rs1176555010 GRCh37: 17:10600561-10600562
GRCh38: 17:10697244-10697245
21 NDUFV1 NM_007103.4(NDUFV1):c.797dup (p.Arg267fs) DUP Pathogenic
1299402 GRCh37: 11:67378560-67378561
GRCh38: 11:67611089-67611090
22 NDUFV1 NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter) SNV Pathogenic
1323338 GRCh37: 11:67376932-67376932
GRCh38: 11:67609461-67609461
23 SURF1 NM_003172.4(SURF1):c.152dup (p.Ser52fs) DUP Pathogenic
1323662 GRCh37: 9:136221766-136221767
GRCh38: 9:133354911-133354912
24 MT-CO3 m.9487_9501delTCGCAGGATTTTTCT DEL Pathogenic
9654 rs267606612 GRCh37: MT:9480-9494
GRCh38: MT:9480-9494
25 MT-CO3 m.9952G>A SNV Pathogenic
9655 rs267606613 GRCh37: MT:9952-9952
GRCh38: MT:9952-9952
26 MT-CO2 m.7587T>C SNV Pathogenic
9658 rs199474825 GRCh37: MT:7587-7587
GRCh38: MT:7587-7587
27 MT-CO2 m.7671T>A SNV Pathogenic
9660 rs199474827 GRCh37: MT:7671-7671
GRCh38: MT:7671-7671
28 MT-CO2 m.8042_8043delAT DEL Pathogenic
9661 rs199474828 GRCh37: MT:8042-8043
GRCh38: MT:8042-8043
29 MT-CO2 m.7896G>A SNV Pathogenic
9662 rs199474829 GRCh37: MT:7896-7896
GRCh38: MT:7896-7896
30 MT-CO1 m.6480G>A SNV Pathogenic
9666 rs199476128 GRCh37: MT:6480-6480
GRCh38: MT:6480-6480
31 MT-CO1 m.6930G>A SNV Pathogenic
9668 rs28679680 GRCh37: MT:6930-6930
GRCh38: MT:6930-6930
32 MT-CO2 NC_012920.1:m.8088delT DEL Pathogenic
488349 rs1556423388 GRCh37: MT:8087-8087
GRCh38: MT:8087-8087
33 SURF1 NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) INDEL Pathogenic
215237 rs863224228 GRCh37: 9:136221516-136221525
GRCh38: 9:133354661-133354670
34 SURF1 NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) SNV Pathogenic
1329011 GRCh37: 9:136219562-136219562
GRCh38: 9:133352707-133352707
35 MT-TS1 NC_012920.1(MT-TS1):m.7453G>A SNV Pathogenic
869395 rs2068703521 GRCh37: MT:7453-7453
GRCh38: MT:7453-7453
36 MT-CO3 m.9379G>A SNV Pathogenic
9657 rs267606615 GRCh37: MT:9379-9379
GRCh38: MT:9379-9379
37 NDUFV1 NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) SNV Pathogenic
14059 rs121913661 GRCh37: 11:67377981-67377981
GRCh38: 11:67610510-67610510
38 SURF1 NM_003172.4(SURF1):c.574_575insCTCC (p.Arg192fs) INSERT Pathogenic
12769 GRCh37: 9:136219562-136219563
GRCh38: 9:133352707-133352708
39 SURF1 NM_003172.4(SURF1):c.833+1G>A SNV Pathogenic
599351 rs782609482 GRCh37: 9:136218915-136218915
GRCh38: 9:133352060-133352060
40 SURF1 NM_003172.4(SURF1):c.792_793del (p.Arg264fs) MICROSAT Pathogenic
215238 rs782490558 GRCh37: 9:136218956-136218957
GRCh38: 9:133352101-133352102
41 SURF1 NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) SNV Pathogenic
12768 rs28933402 GRCh37: 9:136220748-136220748
GRCh38: 9:133353893-133353893
42 NDUFV1 NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) SNV Pathogenic
14056 rs121913659 GRCh37: 11:67379696-67379696
GRCh38: 11:67612225-67612225
43 MT-CO3 m.9537dupC DUP Pathogenic
9656 rs267606614 GRCh37: MT:9531-9532
GRCh38: MT:9531-9532
44 MT-TS1 NC_012920.1:m.7505T>C SNV Pathogenic
40885 rs724159989 GRCh37: MT:7505-7505
GRCh38: MT:7505-7505
45 MT-TS1 NC_012920.1:m.7462C>T SNV Pathogenic
631470 rs1569484151 GRCh37: MT:7462-7462
GRCh38: MT:7462-7462
46 SURF1 NM_003172.4(SURF1):c.845_846del (p.Ser282fs) MICROSAT Pathogenic
12770 rs782316919 GRCh37: 9:136218825-136218826
GRCh38: 9:133351970-133351971
47 SURF1 NM_003172.4(SURF1):c.758_759del (p.Thr253fs) MICROSAT Pathogenic
372717 rs782349178 GRCh37: 9:136218990-136218991
GRCh38: 9:133352135-133352136
48 MT-TS1 m.7512T>C SNV Pathogenic
9562 rs199474817 GRCh37: MT:7512-7512
GRCh38: MT:7512-7512
49 SURF1 NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) INSERT Pathogenic
419973 rs782289759 GRCh37: 9:136219562-136219563
GRCh38: 9:133352707-133352708
50 COA8 NM_001370595.2(COA8):c.-10dup DUP Pathogenic
1030024 rs559856575 GRCh37: 14:104029324-104029325
GRCh38: 14:103562987-103562988

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

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 MT-CO1 p.Ser142Phe VAR_033055 rs267606883
2 MT-CO1 p.Leu196Ile VAR_033056 rs28461189
3 MT-CO2 p.Met29Lys VAR_035085 rs199474827
4 NDUFV1 p.Ala341Val VAR_008846 rs121913660
5 NDUFV1 p.Thr423Met VAR_008847 rs121913659
6 NDUFV1 p.Glu214Lys VAR_019534 rs121913661
7 SURF1 p.Gly124Glu VAR_007450 rs28933402
8 SURF1 p.Ile246Thr VAR_007452
9 SURF1 p.Gly124Arg VAR_015258 rs782033035
10 SURF1 p.Tyr274Asp VAR_015259 rs121918658
11 SURF1 p.Leu90Pro VAR_068649 rs782024654
12 SURF1 p.Val177Gly VAR_068650
13 SURF1 p.Gly205Glu VAR_068651
14 SURF1 p.Met235Thr VAR_068652 rs1319811735
15 SURF1 p.Ala248Asp VAR_068653
16 SURF1 p.Gly257Arg VAR_068654
17 SURF1 p.Gly257Val VAR_083395 rs1030336089

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 TACO1 SURF1 SCO2 SCO1 MT-CO3 MT-CO2
2
Show member pathways
13.64 TACO1 SURF1 SCO2 SCO1 NDUFV1 MT-CO3
3
Show member pathways
13.3 COX4I1 COX6B1 COX8A MT-CO1 MT-CO2 MT-CO3
4
Show member pathways
12.83 COX4I1 COX6B1 COX8A MT-CO1 MT-CO2 MT-CO3
5
Show member pathways
12.69 COX15 COX4I1 COX6B1 COX8A MT-CO1 MT-CO2
6
Show member pathways
12.65 TACO1 SURF1 SCO2 SCO1 MT-CO3 MT-CO2
7
Show member pathways
12.05 COX8A COX6B1 COX4I1 COX15 COX10
8 11.26 TACO1 SURF1 SCO2 SCO1 MT-CO3 MT-CO2
9 11.1 TACO1 SURF1 PET100 COX8A COX6B1 COX4I1

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.57 SURF1 SCO2 SCO1 PET100 MT-CO3 MT-CO2
2 membrane GO:0016021 10.57 SURF1 SCO2 SCO1 PET100 MT-CO3 MT-CO2
3 mitochondrion GO:0005739 10.16 COA3 COA8 COX10 COX15 COX4I1 COX6B1
4 respiratory chain complex IV GO:0045277 9.96 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1
5 mitochondrial respiratory chain complex IV GO:0005751 9.93 COX4I1 COX6B1 COX8A MT-CO1 MT-CO2 MT-CO3
6 mitochondrial membrane GO:0031966 9.92 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1 COX4I1
7 mitochondrial respirasome GO:0005746 9.78 SURF1 COX15
8 mitochondrial inner membrane GO:0005743 9.77 COA3 COA8 COX10 COX15 COX4I1 COX6B1
9 cytochrome complex GO:0070069 9.71 COX15 COX10
10 obsolete integral component of mitochondrial inner membrane GO:0031305 9.67 SCO2 SCO1 PET100 COA3
11 respirasome GO:0070469 9.61 MT-CO1 MT-CO2 NDUFV1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 10.2 SURF1 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1
2 cellular respiration GO:0045333 10.1 COX15 COX4I1 COX6B1 COX8A MT-CO1 MT-CO2
3 aerobic respiration GO:0009060 10.07 COX10 MT-CO1 MT-CO3 NDUFV1 SURF1
4 mitochondrial cytochrome c oxidase assembly GO:0033617 10 TACO1 SURF1 SCO2 SCO1 PET100 COA8
5 respiratory electron transport chain GO:0022904 9.85 SCO2 MT-CO3 MT-CO1
6 electron transport chain GO:0022900 9.83 SURF1 NDUFV1 MT-CO2 MT-CO1
7 positive regulation of mitochondrial translation GO:0070131 9.81 FASTKD2 COA3
8 cellular copper ion homeostasis GO:0006878 9.8 SCO2 SCO1
9 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.8 COX15 COX4I1 COX6B1 COX8A MT-CO1 MT-CO2
10 heme A biosynthetic process GO:0006784 9.78 COX15 COX10
11 oxidative phosphorylation GO:0006119 9.71 MT-CO1 COX8A COX6B1 COX4I1
12 respiratory chain complex IV assembly GO:0008535 9.32 SURF1 SCO2 SCO1 MT-CO3 COX15 COX10

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 copper ion binding GO:0005507 9.73 SCO2 SCO1 MT-CO2
2 cytochrome-c oxidase activity GO:0004129 9.53 SURF1 MT-CO3 MT-CO2 MT-CO1 COX8A COX6B1
3 copper chaperone activity GO:0016531 9.46 SCO2 SCO1
4 triplet codon-amino acid adaptor activity GO:0030533 9.13 MT-TS1 MT-TN MT-TL1

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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