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MMIT
MCID: MTC116
MIFTS: 44

Mitochondrial Myopathy, Infantile, Transient (MMIT)

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Mitochondrial Myopathy, Infantile, Transient

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MalaCards integrated aliases for Mitochondrial Myopathy, Infantile, Transient:

Name: Mitochondrial Myopathy, Infantile, Transient 57 71
Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency 58 28 5
Mitochondrial Myopathy, Infantile, Transient, Due to Respiratory Chain Deficiency 57
Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy 58
Mitochondrial Myopathy with Reversible Complex Iv Deficiency 58
Mitochondrial Myopathy with Reversible Cox Deficiency 58
Reversible Infantile Cytochrome C Oxidase Deficiency 58
Respiratory Chain Deficiency, Infantile, Transient 57
Reversible Infantile Respiratory Chain Deficiency 58
Cox Deficiency Myopathy, Infantile, Transient 57
Benign Cox Deficiency 58
Mmit 57

Characteristics:


Inheritance:

Mitochondrial Myopathy, Infantile, Transient: Mitochondrial 57
Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency: Mitochondrial inheritance 58

Age Of Onset:

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in first weeks of life
gradual spontaneous improvement in the first year of life
improvement of abnormal muscle biopsy and cox deficiency
some patients may have residual muscle weakness


Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Respiratory diseases Muscle diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Inborn errors of metabolism


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Summaries for Mitochondrial Myopathy, Infantile, Transient

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OMIM®: 57 Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010). See also transient infantile liver failure (LFIT; 613070), which is a similar disorder. (500009) (Updated 08-Dec-2022)

MalaCards based summary: Mitochondrial Myopathy, Infantile, Transient, also known as mitochondrial myopathy with reversible cytochrome c oxidase deficiency, is related to mitochondrial complex iv deficiency, nuclear type 1 and myopathy, and has symptoms including weakness and facial paresis. An important gene associated with Mitochondrial Myopathy, Infantile, Transient is MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver, skeletal muscle and skin, and related phenotypes are muscle weakness and myopathy

Orphanet: 58 A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.
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Related Diseases for Mitochondrial Myopathy, Infantile, Transient

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Diseases in the Mitochondrial Myopathy family:

Mitochondrial Myopathy, Infantile, Transient

Diseases related to Mitochondrial Myopathy, Infantile, Transient via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iv deficiency, nuclear type 1 30.1 MT-CO3 MT-CO2 MT-CO1
2 myopathy 29.6 MT-CYB MT-CO3 MT-CO2 MT-CO1 MT-ATP6
3 mitochondrial disease 29.3 MT-TE MT-ND5 MT-ND1 MT-CO3 MT-CO2 MT-ATP6
4 lactic acidosis 28.5 TRMU MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-CO2
5 mitochondrial encephalomyopathy 28.0 TRMU MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3
6 mitochondrial myopathy 27.7 TRMU MT-TE MT-ND5 MT-ND2 MT-ND1 MT-CYB
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 27.7 TRMU MT-TE MT-ND5 MT-ND2 MT-ND1 MT-CYB
8 liver failure, infantile, transient 11.1
9 hypotonia 10.4
10 mixed malaria 10.2 MT-CYB MT-CO3
11 lipomatosis, multiple 10.1
12 oesophagostomiasis 10.1 MT-CYB MT-CO1
13 pediculus humanus capitis infestation 10.1 MT-CYB MT-CO1
14 genetic recurrent myoglobinuria 10.1 MT-CO3 MT-CO1
15 dracunculiasis 10.1 MT-CYB MT-CO1
16 phlebotomus fever 10.1 MT-CYB MT-CO1
17 pediculus humanus corporis infestation 10.1 MT-CYB MT-CO1
18 trench fever 10.1 MT-CYB MT-CO1
19 angiostrongyliasis 10.1 MT-CYB MT-CO1
20 eosinophilic meningitis 10.1 MT-CYB MT-CO1
21 eastern equine encephalitis 10.1 MT-CYB MT-CO1
22 neuropathy, ataxia, and retinitis pigmentosa 10.1 MT-CYB MT-ATP6
23 endemic typhus 10.1 MT-CYB MT-CO1
24 lice infestation 10.1 MT-CYB MT-CO1
25 cardiomyopathy, infantile histiocytoid 10.1 MT-CYB MT-ATP6
26 bartonellosis 10.1 MT-CYB MT-CO1
27 cercarial dermatitis 10.1 MT-ND5 MT-CO1
28 echinococcosis 10.1 MT-CO1 MT-ATP6
29 theileriasis 10.1 MT-CYB MT-CO1
30 myopathy, lactic acidosis, and sideroblastic anemia 10.0 TRMU MT-ATP6
31 tick infestation 10.0 MT-CYB MT-CO1
32 mitochondrial dna depletion syndrome 4b 10.0 TRMU MT-CO3
33 babesiosis 10.0 MT-CYB MT-CO1
34 articulation disorder 10.0 MT-CYB MT-CO1
35 mitochondrial complex iv deficiency, nuclear type 5 10.0 MT-CYB MT-ATP6
36 cardiomyopathy, infantile hypertrophic 10.0 TRMU MT-ATP6
37 myopathy, lactic acidosis, and sideroblastic anemia 3 10.0 MT-CO1 MT-ATP6
38 epidemic typhus 9.9 MT-CYB MT-CO1
39 myoglobinuria 9.9 MT-CYB MT-CO3 MT-CO1
40 hereditary optic neuropathy 9.9 MT-ND5 MT-ND2 MT-ATP6
41 leber optic atrophy and dystonia 9.9 MT-ND5 MT-ND1
42 mesocestoidiasis 9.9 MT-ND1 MT-CO1
43 alzheimer disease mitochondrial 9.8 MT-ND2 MT-ND1
44 polycystic echinococcosis 9.8 MT-ND1 MT-CO1
45 diamond-blackfan anemia 8 9.8 MT-ND2 MT-ND1
46 deafness, aminoglycoside-induced 9.8 TRMU MT-CO1 MT-ATP6
47 mitochondrial complex i deficiency, nuclear type 16 9.8 MT-ND1 MT-ATP6
48 cortical blindness 9.8 MT-ND5 MT-ND1
49 familial colorectal cancer 9.8 MT-CYB MT-CO2 MT-CO1
50 toxascariasis 9.8 MT-ND1 MT-CO2

Graphical network of the top 20 diseases related to Mitochondrial Myopathy, Infantile, Transient:



Diseases related to Mitochondrial Myopathy, Infantile, Transient
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Symptoms & Phenotypes for Mitochondrial Myopathy, Infantile, Transient

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Human phenotypes related to Mitochondrial Myopathy, Infantile, Transient:

58 30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001324
2 myopathy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003198
3 increased muscle glycogen content 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0009051
4 ragged-red muscle fibers 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003200
5 increased muscle lipid content 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0009058
6 generalized hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001290
7 cytochrome c oxidase-negative muscle fibers 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003688
8 hyporeflexia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001265
9 decreased activity of mitochondrial complex i 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011923
10 respiratory distress 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002098
11 mildly elevated creatine kinase 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008180
12 severe lactic acidosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004900
13 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000218
14 macroglossia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000158
15 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002240
16 abnormality of the cardiovascular system 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001626
17 nasogastric tube feeding in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011470
18 poor suck 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002033
19 decreased plasma carnitine 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003234
20 ventilator dependence with inability to wean 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005946
21 delayed gross motor development 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002194
22 feeding difficulties 30 Very rare (1%) HP:0011968
23 failure to thrive 30 HP:0001508
24 facial palsy 30 HP:0010628
25 elevated circulating creatine kinase concentration 30 HP:0003236
26 abnormality of the liver 58 Occasional (29-5%)
27 respiratory insufficiency due to muscle weakness 30 HP:0002747
28 areflexia 30 HP:0001284
29 increased serum lactate 30 HP:0002151
30 abnormality of the nervous system 58 Occasional (29-5%)
31 lactic acidosis 30 HP:0003128
32 increased serum pyruvate 30 HP:0003542
33 mitochondrial myopathy 30 HP:0003737
34 neck muscle weakness 30 HP:0000467
35 myopathic facies 30 HP:0002058
36 respiratory failure requiring assisted ventilation 58 Occasional (29-5%)
37 hypertrophied muscle fibers 30 HP:0100293

Symptoms via clinical synopsis from OMIM®:

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

Respiratory:
respiratory insufficiency due to muscle weakness

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

Head And Neck Mouth:
macroglossia, transient

Laboratory Abnormalities:
increased serum creatine kinase in acute stage
increased serum lactate in acute stage
increased serum pyruvate in acute stage
decreased serum carnitine in acute stage

Muscle Soft Tissue:
hypotonia
ragged red fibers
variation in fiber size
weakness, generalized
muscle biopsy in acute stage shows increased numbers of abnormal mitochondria
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Face:
myopathic facies
facial weakness

Head And Neck Neck:
neck weakness

Abdomen Liver:
hepatomegaly, transient

Clinical features from OMIM®:

500009 (Updated 08-Dec-2022)

UMLS symptoms related to Mitochondrial Myopathy, Infantile, Transient:


weakness; facial paresis
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Drugs & Therapeutics for Mitochondrial Myopathy, Infantile, Transient

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Search Clinical Trials, NIH Clinical Center for Mitochondrial Myopathy, Infantile, Transient

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Genetic Tests for Mitochondrial Myopathy, Infantile, Transient

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Genetic tests related to Mitochondrial Myopathy, Infantile, Transient:

# Genetic test Affiliating Genes
1 Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency 28
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Anatomical Context for Mitochondrial Myopathy, Infantile, Transient

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Organs/tissues related to Mitochondrial Myopathy, Infantile, Transient:

MalaCards : Liver, Skeletal Muscle, Skin
Sources

Publications for Mitochondrial Myopathy, Infantile, Transient

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Articles related to Mitochondrial Myopathy, Infantile, Transient:

(show all 43)
# Title Authors PMID Year
1
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 62 57 5
21931168 2011
2
Reversible infantile respiratory chain deficiency: a clinical and molecular study. 62 57 5
21194154 2010
3
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. 62 57 5
19720722 2009
4
A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. 5
20018511 2010
5
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 5
12414820 2002
6
Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. 5
11601507 2001
7
Functional characterization of novel mutations in the human cytochrome b gene. 5
11464242 2001
8
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. 5
10502593 1999
9
Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation. 5
8988236 1996
10
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. 5
8910895 1996
11
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency. 57
1325759 1992
12
Benign reversible muscle cytochrome c oxidase deficiency: a second case. 57
3025776 1987
13
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. 57
6312869 1983
14
Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy. 57
4273245 1973
15
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant. 62
34806237 2022
16
Exposure of Primate Reservoir Hosts to Mosquito Vectors in Malaysian Borneo. 62
35553290 2022
17
Primary mitochondrial myopathies in childhood. 62
34736635 2021
18
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency. 62
34400372 2021
19
Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency. 62
33832841 2021
20
Impact of diffuse layer processes on contaminant forward and back diffusion in heterogeneous sandy-clayey domains. 62
33517148 2021
21
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. 62
33128823 2020
22
Initial Intravascular Ultrasound Without a Routine Early Baseline Study in the Evaluation of Cardiac Transplant Vasculopathy has Prognostic Valve. 62
30745023 2019
23
A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive. 62
31333056 2019
24
High-Intensity Interval Training in Patients with Type 2 Diabetes Mellitus: a Systematic Review. 62
30712240 2019
25
Rabi splitting and optical Kerr nonlinearity of quantum dot mediated by Majorana fermions. 62
30518767 2018
26
Nil Whey Protein Effect on Glycemic Control after Intense Mixed-Mode Training in Type 2 Diabetes. 62
29251686 2018
27
Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies. 62
27854233 2016
28
Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. 62
25666558 2015
29
The effectiveness of computerized drug-lab alerts: a systematic review and meta-analysis. 62
24793784 2014
30
Multipoint and multilevel injection technique of botulinum toxin A in facial aesthetics. 62
24910277 2014
31
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. 62
23814040 2013
32
The effects of modified melodic intonation therapy on nonfluent aphasia: a pilot study. 62
22411278 2012
33
The effectiveness of integrated health information technologies across the phases of medication management: a systematic review of randomized controlled trials. 62
21852412 2012
34
Enabling medication management through health information technology (Health IT). 62
23126642 2011
35
High-resolution, imaging TOF-SIMS: novel applications in medical research. 62
20824426 2011
36
Evaluation of Paracoccidioides brasiliensis exoantigen in the detection of delayed dermal hypersensitivity in experimental and human paracoccidioidomycosis. 62
8873886 1996
37
[Experimental study of schistosome immune RNA on transfer of cellular and humoral immunity to normal mice]. 62
1720357 1991
38
In vitro studies in nickel allergy: diagnostic value of a dual parameter analysis. 62
3549912 1987
39
[Macrophage migration inhibition test in guinea pigs infected with Rickettsia prowazekii]. 62
6792842 1981
40
[Comparative investigations of quantitative determination of cell-mediated immunity by skin test, macrophage migration inhibition test, and lymphocyte transformation test in guinea pigs (author's transl)]. 62
154289 1978
41
Application of the macrophage migration inhibition test to screen patients with early cancer and obtain prognostic determinations of cancer treatment. 62
948144 1976
42
[Studies with the macrophage migration inhibition test in patients with rheumatoid arthritis]. 62
136883 1976
43
Direct macrophage migration inhibition test in DNCB contact sensitized guinea pigs. 62
1248895 1976
Sources

Variations for Mitochondrial Myopathy, Infantile, Transient

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ClinVar genetic disease variations for Mitochondrial Myopathy, Infantile, Transient:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TE m.14674T>G SNV Pathogenic
 30003 rs387906421 GRCh37: MT:14674-14674
GRCh38: MT:14674-14674
2 MT-ND5 NC_012920.1(MT-ND5):m.12425del DEL Pathogenic
 693440 rs1603223730 GRCh37: MT:12418-12418
GRCh38: MT:12418-12418
3 MT-CYB m.15150G>A SNV Pathogenic
 9681 rs207460000 GRCh37: MT:15150-15150
GRCh38: MT:15150-15150
4 MT-CO3 m.9379G>A SNV Pathogenic
 9657 rs267606615 GRCh37: MT:9379-9379
GRCh38: MT:9379-9379
5 MT-CYB m.14846G>A SNV Pathogenic
 9679 rs207459998 GRCh37: MT:14846-14846
GRCh38: MT:14846-14846
6 MT-TE m.14674T>C SNV Pathogenic
 9618 rs387906421 GRCh37: MT:14674-14674
GRCh38: MT:14674-14674
7 MT-CYB m.15579A>G SNV Likely Pathogenic
 9683 rs207460002 GRCh37: MT:15579-15579
GRCh38: MT:15579-15579
8 MT-TE NC_012920.1(MT-CYB):m.14701C>T SNV Likely Pathogenic
 618220 rs1569484669 GRCh37: MT:14701-14701
GRCh38: MT:14701-14701
9 MT-ND1 NC_012920.1(MT-ND1):m.3502T>C SNV Likely Pathogenic
 692361 rs1603218987 GRCh37: MT:3502-3502
GRCh38: MT:3502-3502
10 MT-CO2 NC_012920.1(MT-CO2):m.8156del DEL Likely Pathogenic
 1710006 GRCh37: MT:8152-8152
GRCh38: MT:8152-8152
11 MT-ATP6 NC_012920.1(MT-ATP6):m.8719G>A SNV Likely Pathogenic
 692961 rs28624611 GRCh37: MT:8719-8719
GRCh38: MT:8719-8719
12 MT-CO1 NC_012920.1(MT-CO1):m.7222A>G SNV Likely Pathogenic
 692717 rs1603220834 GRCh37: MT:7222-7222
GRCh38: MT:7222-7222
13 MT-CO1 NC_012920.1(MT-CO1):m.6145G>A SNV Likely Pathogenic
 692624 rs1603220294 GRCh37: MT:6145-6145
GRCh38: MT:6145-6145
14 MT-ND2 NC_012920.1(MT-ND2):m.5367_5385del DEL Likely Pathogenic
 692585 rs1603219920 GRCh37: MT:5360-5378
GRCh38: MT:5360-5378
15 MT-ND1 NC_012920.1(MT-ND1):m.3571del DEL Likely Pathogenic
 692374 rs1603219020 GRCh37: MT:3566-3566
GRCh38: MT:3566-3566
16 MT-CYB m.15615G>A SNV Likely Pathogenic
 9678 rs207459997 GRCh37: MT:15615-15615
GRCh38: MT:15615-15615
17 MT-ND5 NC_012920.1(MT-ND5):m.12858C>A SNV Uncertain Significance
 693492 rs879012050 GRCh37: MT:12858-12858
GRCh38: MT:12858-12858
Sources

Expression for Mitochondrial Myopathy, Infantile, Transient

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Search GEO for disease gene expression data for Mitochondrial Myopathy, Infantile, Transient.
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Pathways for Mitochondrial Myopathy, Infantile, Transient

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Pathways related to Mitochondrial Myopathy, Infantile, Transient according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.01 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3 MT-CO2
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 66
Show member pathways
 11.98 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3 MT-CO2
3
Complex I biogenesis 66
Show member pathways
 11.48 MT-ND5 MT-ND2 MT-ND1
4
TP53 Regulates Metabolic Genes 66
11.27 MT-CO3 MT-CO2 MT-CO1
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GO Terms for Mitochondrial Myopathy, Infantile, Transient

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Cellular components related to Mitochondrial Myopathy, Infantile, Transient according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.41 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3 MT-CO2
2 membrane GO:0016020 10.41 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3 MT-CO2
3 mitochondrion GO:0005739 9.97 TRMU MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3
4 mitochondrial respiratory chain complex I GO:0005747 9.88 MT-ND5 MT-ND2 MT-ND1
5 mitochondrial inner membrane GO:0005743 9.86 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3 MT-CO2
6 mitochondrial respiratory chain complex IV GO:0005751 9.8 MT-CO3 MT-CO2 MT-CO1
7 mitochondrial membrane GO:0031966 9.77 MT-ND1 MT-CO3 MT-CO2 MT-CO1
8 mitochondrial respiratory chain complex III GO:0005750 9.73 MT-CO1 MT-CYB
9 respiratory chain complex IV GO:0045277 9.73 MT-CO1 MT-CO2 MT-CO3
10 respirasome GO:0070469 9.1 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO2 MT-CO1

Biological processes related to Mitochondrial Myopathy, Infantile, Transient according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 9.95 MT-ND5 MT-ND2 MT-ND1
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.93 MT-ND5 MT-ND2 MT-ND1
3 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.86 MT-ATP6 MT-ND1 MT-ND2 MT-ND5
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.85 MT-CO3 MT-CO2 MT-CO1
5 proton transmembrane transport GO:1902600 9.81 MT-CYB MT-CO3 MT-CO2 MT-CO1 MT-ATP6
6 electron transport coupled proton transport GO:0015990 9.71 MT-ND5 MT-CO1
7 electron transport chain GO:0022900 9.67 MT-ND1 MT-CO2 MT-CO1
8 respiratory electron transport chain GO:0022904 9.62 MT-CYB MT-CO3 MT-CO1
9 ATP synthesis coupled electron transport GO:0042773 9.61 MT-ND5 MT-CO2
10 cellular respiration GO:0045333 9.56 MT-CYB MT-CO3 MT-CO2 MT-CO1
11 aerobic respiration GO:0009060 9.32 MT-ND5 MT-ND2 MT-ND1 MT-CO3 MT-CO1

Molecular functions related to Mitochondrial Myopathy, Infantile, Transient according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 9.46 MT-ND5 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.43 MT-ND5 MT-ND2 MT-ND1
3 cytochrome-c oxidase activity GO:0004129 9.1 MT-CO3 MT-CO2 MT-CO1
Sources

Sources for Mitochondrial Myopathy, Infantile, Transient

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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