MCID: MTC116
MIFTS: 29

Mitochondrial Myopathy, Infantile, Transient

Categories: Metabolic diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Mitochondrial Myopathy, Infantile, Transient

MalaCards integrated aliases for Mitochondrial Myopathy, Infantile, Transient:

Name: Mitochondrial Myopathy, Infantile, Transient 57 29 6 73
Mitochondrial Myopathy, Infantile, Transient, Due to Respiratory Chain Deficiency 57
Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency 59
Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy 59
Mitochondrial Myopathy with Reversible Complex Iv Deficiency 59
Mitochondrial Myopathy with Reversible Cox Deficiency 59
Reversible Infantile Cytochrome C Oxidase Deficiency 59
Respiratory Chain Deficiency, Infantile, Transient 57
Reversible Infantile Respiratory Chain Deficiency 59
Cox Deficiency Myopathy, Infantile, Transient 57
Benign Cox Deficiency 59
Mmit 57

Characteristics:

Orphanet epidemiological data:

59
mitochondrial myopathy with reversible cytochrome c oxidase deficiency
Inheritance: Mitochondrial inheritance; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
mitochondrial myopathy, infantile, transient:
Onset and clinical course neonatal onset
Inheritance mitochondrial inheritance


Classifications:

Orphanet: 59  
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)

MalaCards based summary : Mitochondrial Myopathy, Infantile, Transient, also known as mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency, is related to liver failure, infantile, transient and mitochondrial complex iv deficiency, and has symptoms including facial paresis and weakness. An important gene associated with Mitochondrial Myopathy, Infantile, Transient is MT-TE (Mitochondrially Encoded TRNA Glutamic Acid). Affiliated tissues include liver, and related phenotypes are macroglossia and neck muscle weakness

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 all 15)
# Related Disease Score Top Affiliating Genes
1 liver failure, infantile, transient 11.0
2 mitochondrial complex iv deficiency 10.1
3 myopathy 10.1
4 parkinson disease, mitochondrial 9.9 MT-CYB MT-ND6
5 parkinson disease 6, autosomal recessive early-onset 9.9 MT-CYB MT-ND6
6 leber optic atrophy 9.9 MT-CYB MT-ND6
7 encephalomyopathy 9.8 MT-CYB MT-ND6
8 familial colorectal cancer 9.8 MT-CYB MT-ND6
9 kearns-sayre syndrome 9.8 MT-CYB MT-ND6
10 mitochondrial encephalomyopathy 9.8 MT-CYB MT-ND6
11 mitochondrial myopathy 9.7 MT-CYB MT-ND6
12 lactic acidosis 9.7 MT-CYB MT-ND6
13 leber hereditary optic neuropathy 9.5 MT-CYB MT-ND6
14 leigh syndrome 9.2 MT-CYB MT-ND6
15 mitochondrial disorders 9.2 MT-ND6 MT-TE

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Metabolic Features:
lactic acidosis

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

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

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

Human phenotypes related to Mitochondrial Myopathy, Infantile, Transient:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 neck muscle weakness 32 HP:0000467
3 hyporeflexia 32 HP:0001265
4 areflexia 32 HP:0001284
5 generalized hypotonia 32 HP:0001290
6 failure to thrive 32 HP:0001508
7 myopathic facies 32 HP:0002058
8 increased serum lactate 32 HP:0002151
9 hepatomegaly 32 HP:0002240
10 respiratory insufficiency due to muscle weakness 32 HP:0002747
11 lactic acidosis 32 HP:0003128
12 ragged-red muscle fibers 32 HP:0003200
13 decreased plasma carnitine 32 HP:0003234
14 elevated serum creatine phosphokinase 32 HP:0003236
15 increased serum pyruvate 32 HP:0003542
16 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
17 mitochondrial myopathy 32 HP:0003737
18 increased muscle glycogen content 32 very rare (1%) HP:0009051
19 increased muscle lipid content 32 very rare (1%) HP:0009058
20 facial palsy 32 HP:0010628
21 feeding difficulties 32 very rare (1%) HP:0011968
22 muscle fiber hypertrophy 32 HP:0100293

UMLS symptoms related to Mitochondrial Myopathy, Infantile, Transient:


facial paresis, weakness

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:

41
Liver

Publications for Mitochondrial Myopathy, Infantile, Transient

Articles related to Mitochondrial Myopathy, Infantile, Transient:

# Title Authors Year
1
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. ( 19720722 )
2009

Variations for Mitochondrial Myopathy, Infantile, Transient

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh37 Chromosome MT, 14674: 14674
2 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh38 Chromosome MT, 14674: 14674
3 MT-TE m.14674T> G single nucleotide variant Pathogenic rs387906421 GRCh38 Chromosome MT, 14674: 14674
4 MT-TE m.14674T> G single nucleotide variant Pathogenic rs387906421 GRCh37 Chromosome MT, 14674: 14674

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 9.13 MT-CYB MT-ND6 TRMU
2 respiratory chain GO:0070469 8.62 MT-CYB MT-ND6

Sources for Mitochondrial Myopathy, Infantile, Transient

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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