MMIT
MCID: MTC116
MIFTS: 42

Mitochondrial Myopathy, Infantile, Transient (MMIT)

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Myopathy, Infantile, Transient

MalaCards integrated aliases for Mitochondrial Myopathy, Infantile, Transient:

Name: Mitochondrial Myopathy, Infantile, Transient 57 29 6 70
Mitochondrial Myopathy, Infantile, Transient, Due to Respiratory Chain Deficiency 57
Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency 58
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:

Orphanet epidemiological data:

58
mitochondrial myopathy with reversible cytochrome c oxidase deficiency
Inheritance: Mitochondrial inheritance; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
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

Inheritance:
mitochondrial


HPO:

31
mitochondrial myopathy, infantile, transient:
Onset and clinical course neonatal onset
Inheritance mitochondrial inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Mitochondrial Myopathy, Infantile, Transient

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 05-Apr-2021)

MalaCards based summary : Mitochondrial Myopathy, Infantile, Transient, also known as mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency, is related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes and mitochondrial disorders, 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 Pathways of neurodegeneration - multiple diseases. Affiliated tissues include liver and skin, and related phenotypes are muscle weakness and myopathy

Related Diseases for Mitochondrial Myopathy, Infantile, Transient

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 84)
# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 29.6 MT-TE MT-ND5 MT-ND1 MT-CO1 MT-ATP6
2 mitochondrial disorders 28.9 MT-TE MT-ND5 MT-ND1 MT-CO3 MT-CO1 MT-ATP6
3 lactic acidosis 28.7 TRMU MT-ND5 MT-ND1 MT-CYB MT-CO3 MT-CO1
4 mitochondrial encephalomyopathy 28.1 TRMU MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3
5 myopathy 27.8 TRMU MT-TE MT-ND5 MT-ND2 MT-ND1 MT-CYB
6 mitochondrial myopathy 27.8 TRMU MT-TE MT-ND5 MT-ND2 MT-ND1 MT-CYB
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 27.8 TRMU MT-TE MT-ND5 MT-ND2 MT-ND1 MT-CYB
8 liver failure, infantile, transient 11.0
9 hypotonia 10.3
10 oesophagostomiasis 10.2 MT-CYB MT-CO1
11 echinostomiasis 10.2 MT-TE MT-CO1
12 gnathomiasis 10.2 MT-TE MT-CO1
13 pediculus humanus corporis infestation 10.2 MT-CYB MT-CO1
14 bartonellosis 10.2 MT-CYB MT-CO1
15 ophthalmomyiasis 10.2 MT-CYB MT-CO1
16 babesiosis 10.1 MT-CYB MT-CO1
17 amelogenesis imperfecta, type iv 10.1 MT-CYB MT-CO1
18 mixed malaria 10.1 MT-CYB MT-CO3
19 periodic fever, familial, autosomal dominant 10.1 MT-CYB MT-CO1
20 coenurosis 10.1 MT-ND1 MT-CO1
21 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
22 polycystic echinococcosis 10.1 MT-ND1 MT-CO1
23 nonsyndromic hearing loss and deafness, mitochondrial 10.1 TRMU MT-CO1
24 familial colorectal cancer 10.1 MT-CYB MT-CO1
25 genetic recurrent myoglobinuria 10.1 MT-CO3 MT-CO1
26 cysticercosis 10.1 MT-ND1 MT-CO1
27 fascioliasis 10.1 MT-ND1 MT-CO1
28 epidemic typhus 10.0 MT-CYB MT-CO1
29 cortical blindness 10.0 MT-ND5 MT-ND1
30 cardiomyopathy, infantile histiocytoid 10.0 MT-CYB MT-ATP6
31 intracranial vasospasm 10.0 MT-ND5 MT-ATP6
32 mitochondrial complex iv deficiency, nuclear type 5 10.0 MT-CYB MT-ATP6
33 stuttering 10.0 MT-CYB MT-CO1
34 parasitic helminthiasis infectious disease 10.0 MT-ND1 MT-CO1
35 sparganosis 10.0 MT-ND1 MT-CYB MT-CO1
36 myiasis 10.0 MT-ND1 MT-CYB MT-CO1
37 taeniasis 10.0 MT-ND1 MT-CYB MT-CO1
38 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.9 MT-CYB MT-ATP6
39 diphyllobothriasis 9.9 MT-ND5 MT-ND1 MT-CO1
40 myopathy, lactic acidosis, and sideroblastic anemia 9.9 TRMU MT-ATP6
41 myoglobinuria 9.9 MT-CYB MT-CO3 MT-CO1
42 mitochondrial metabolism disease 9.9 MT-ND1 MT-ATP6
43 progressive myoclonus epilepsy 8 9.9 MT-ND5 MT-ND2
44 parasitic protozoa infectious disease 9.9 MT-CYB MT-CO1
45 cardiomyopathy, infantile hypertrophic 9.9 TRMU MT-ATP6
46 alzheimer disease mitochondrial 9.9 MT-ND2 MT-ND1
47 deafness, nonsyndromic sensorineural, mitochondrial 9.9 TRMU MT-ND1 MT-CO1
48 deafness, aminoglycoside-induced 9.8 TRMU MT-ND1 MT-CO1
49 cystic echinococcosis 9.8 MT-ND1 MT-CO1 MT-ATP6
50 echinococcosis 9.8 MT-ND1 MT-CO1 MT-ATP6

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



Diseases related to Mitochondrial Myopathy, Infantile, Transient

Symptoms & Phenotypes for Mitochondrial Myopathy, Infantile, Transient

Human phenotypes related to Mitochondrial Myopathy, Infantile, Transient:

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

Symptoms via clinical synopsis from OMIM®:

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

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Face:
myopathic facies
facial weakness

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

Respiratory:
respiratory insufficiency due to muscle weakness

Metabolic Features:
lactic acidosis

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
Head And Neck Neck:
neck weakness

Abdomen Liver:
hepatomegaly, transient

Clinical features from OMIM®:

500009 (Updated 05-Apr-2021)

UMLS symptoms related to Mitochondrial Myopathy, Infantile, Transient:


weakness; facial paresis

Drugs & Therapeutics for Mitochondrial Myopathy, Infantile, Transient

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

Genetic Tests for Mitochondrial Myopathy, Infantile, Transient

Genetic tests related to Mitochondrial Myopathy, Infantile, Transient:

# Genetic test Affiliating Genes
1 Mitochondrial Myopathy, Infantile, Transient 29

Anatomical Context for Mitochondrial Myopathy, Infantile, Transient

MalaCards organs/tissues related to Mitochondrial Myopathy, Infantile, Transient:

40
Liver, Skin

Publications for Mitochondrial Myopathy, Infantile, Transient

Articles related to Mitochondrial Myopathy, Infantile, Transient:

(show all 32)
# Title Authors PMID Year
1
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 57 6
21931168 2011
2
Reversible infantile respiratory chain deficiency: a clinical and molecular study. 57 6
21194154 2010
3
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. 57 6
19720722 2009
4
A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. 6
20018511 2010
5
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 6
12414820 2002
6
Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. 6
11601507 2001
7
Functional characterization of novel mutations in the human cytochrome b gene. 6
11464242 2001
8
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. 6
10502593 1999
9
Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation. 6
8988236 1996
10
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. 6
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
Impact of diffuse layer processes on contaminant forward and back diffusion in heterogeneous sandy-clayey domains. 61
33517148 2021
16
Initial Intravascular Ultrasound Without a Routine Early Baseline Study in the Evaluation of Cardiac Transplant Vasculopathy has Prognostic Valve. 61
30745023 2019
17
High-Intensity Interval Training in Patients with Type 2 Diabetes Mellitus: a Systematic Review. 61
30712240 2019
18
Rabi splitting and optical Kerr nonlinearity of quantum dot mediated by Majorana fermions. 61
30518767 2018
19
Nil Whey Protein Effect on Glycemic Control after Intense Mixed-Mode Training in Type 2 Diabetes. 61
29251686 2018
20
The effectiveness of computerized drug-lab alerts: a systematic review and meta-analysis. 61
24793784 2014
21
Multipoint and multilevel injection technique of botulinum toxin A in facial aesthetics. 61
24910277 2014
22
The effects of modified melodic intonation therapy on nonfluent aphasia: a pilot study. 61
22411278 2012
23
The effectiveness of integrated health information technologies across the phases of medication management: a systematic review of randomized controlled trials. 61
21852412 2012
24
Enabling medication management through health information technology (Health IT). 61
23126642 2011
25
Evaluation of Paracoccidioides brasiliensis exoantigen in the detection of delayed dermal hypersensitivity in experimental and human paracoccidioidomycosis. 61
8873886 1996
26
[Experimental study of schistosome immune RNA on transfer of cellular and humoral immunity to normal mice]. 61
1720357 1991
27
In vitro studies in nickel allergy: diagnostic value of a dual parameter analysis. 61
3549912 1987
28
[Macrophage migration inhibition test in guinea pigs infected with Rickettsia prowazekii]. 61
6792842 1981
29
[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)]. 61
154289 1978
30
Application of the macrophage migration inhibition test to screen patients with early cancer and obtain prognostic determinations of cancer treatment. 61
948144 1976
31
Direct macrophage migration inhibition test in DNCB contact sensitized guinea pigs. 61
1248895 1976
32
[Studies with the macrophage migration inhibition test in patients with rheumatoid arthritis]. 61
136883 1976

Variations for Mitochondrial Myopathy, Infantile, Transient

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

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

Expression for Mitochondrial Myopathy, Infantile, Transient

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

Pathways for Mitochondrial Myopathy, Infantile, Transient

GO Terms for Mitochondrial Myopathy, Infantile, Transient

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.76 TRMU MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3
2 mitochondrial inner membrane GO:0005743 9.5 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO3 MT-CO1
3 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND5 MT-ND2 MT-ND1
4 mitochondrial respiratory chain complex III GO:0005750 9.37 MT-CYB MT-CO1
5 respiratory chain complex IV GO:0045277 9.32 MT-CO3 MT-CO1
6 respiratory chain GO:0070469 9.02 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 MT-ND5 MT-ND2 MT-ND1 MT-CYB MT-CO1
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.5 MT-ND5 MT-ND2 MT-ND1
3 response to organonitrogen compound GO:0010243 9.48 MT-ND5 MT-CYB
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.46 MT-CO3 MT-CO1
5 response to copper ion GO:0046688 9.43 MT-CYB MT-CO1
6 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.43 MT-ND5 MT-ND2 MT-ND1
7 response to hyperoxia GO:0055093 9.4 MT-CYB MT-ATP6
8 aerobic respiration GO:0009060 9.33 MT-ND1 MT-CO3 MT-CO1
9 respiratory electron transport chain GO:0022904 9.13 MT-CYB MT-CO3 MT-CO1
10 electron transport coupled proton transport GO:0015990 8.8 MT-ND5 MT-CYB MT-CO1

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.26 MT-CYB MT-CO3
2 cytochrome-c oxidase activity GO:0004129 9.16 MT-CO3 MT-CO1
3 NADH dehydrogenase activity GO:0003954 8.96 MT-ND5 MT-ND1
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND5 MT-ND2 MT-ND1

Sources for Mitochondrial Myopathy, Infantile, Transient

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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