MEOAL
MCID: MTC145
MIFTS: 21

Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy (MEOAL)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

MalaCards integrated aliases for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy:

Name: Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy 58
Mitochondrial Myopathy, Episodic, with Optic Atrophy and Reversible Leukoencephalopathy 58
Meoal 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in first decade
leukoencephalopathy tends to resolve later in childhood
episodic myopathy may be triggered by infection or low temperature
peripheral neuropathy has onset in the second decade


HPO:

33
mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy:
Inheritance autosomal dominant inheritance autosomal recessive inheritance mitochondrial inheritance


Classifications:



Summaries for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

OMIM : 58 Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function (summary by Gurgel-Giannetti et al., 2018) (251900)

MalaCards based summary : Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy, also known as mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, is related to chronic progressive external ophthalmoplegia and perrault syndrome 1. An important gene associated with Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy is FDX2 (Ferredoxin 2), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include eye, and related phenotypes are muscular hypotonia and muscle weakness

Related Diseases for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Diseases related to Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 9.7 MT-TA MT-TL2
2 perrault syndrome 1 9.6 MT-TL2 MT-TM
3 mitochondrial encephalomyopathy 9.6 MT-TL2 MT-TW
4 mitochondrial myopathy 9.0 MT-TA MT-TL2 MT-TM MT-TW

Symptoms & Phenotypes for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Human phenotypes related to Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 HP:0001252
2 muscle weakness 33 HP:0001324
3 macroglossia 33 HP:0000158
4 hepatomegaly 33 HP:0002240
5 abnormality of metabolism/homeostasis 33 HP:0001939
6 mitochondrial myopathy 33 HP:0003737
7 motor delay 33 HP:0001270
8 hyporeflexia 33 HP:0001265
9 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
optic atrophy (in some patients)
nystagmus (in some patients)
visual impairment (in some patients)

Muscle Soft Tissue:
myalgia
muscle cramps
ragged red fibers
muscle weakness, episodic
mitochondrial myopathy, progressive
more
Neurologic Peripheral Nervous System:
hyporeflexia (in some patients)
sensorimotor peripheral neuropathy

Hematology:
microcytic anemia (in some patients)
neutropenia (in some patients)

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
difficulty walking
spasticity (in some patients)
upper motor neuron signs (in some patients)
delayed motor development, mild
hyperreflexia (in some patients)
more
Endocrine Features:
hypothyroidism (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase (in some patients)
increased serum lactate (in some patients)

Clinical features from OMIM:

251900

Drugs & Therapeutics for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Search Clinical Trials , NIH Clinical Center for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy

Genetic Tests for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Anatomical Context for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

MalaCards organs/tissues related to Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy:

42
Eye

Publications for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Variations for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

ClinVar genetic disease variations for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TA m.5591G> A single nucleotide variant Pathogenic rs121434458 GRCh37 Chromosome MT, 5591: 5591
2 MT-TA m.5591G> A single nucleotide variant Pathogenic rs121434458 GRCh38 Chromosome MT, 5591: 5591
3 MT-TW m.5521G> A single nucleotide variant Pathogenic rs199474673 GRCh37 Chromosome MT, 5521: 5521
4 MT-TW m.5521G> A single nucleotide variant Pathogenic rs199474673 GRCh38 Chromosome MT, 5521: 5521
5 MT-TM m.4409T> C single nucleotide variant Pathogenic rs118203884 GRCh37 Chromosome MT, 4409: 4409
6 MT-TM m.4409T> C single nucleotide variant Pathogenic rs118203884 GRCh38 Chromosome MT, 4409: 4409
7 MT-TL2 m.12320A> G single nucleotide variant Pathogenic rs121434463 GRCh37 Chromosome MT, 12320: 12320
8 MT-TL2 m.12320A> G single nucleotide variant Pathogenic rs121434463 GRCh38 Chromosome MT, 12320: 12320
9 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh37 Chromosome 4, 186066174: 186066174
10 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh38 Chromosome 4, 185145020: 185145020
11 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh37 Chromosome MT, 5610: 5610
12 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh38 Chromosome MT, 5610: 5610
13 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh37 Chromosome MT, 5631: 5631
14 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh38 Chromosome MT, 5631: 5631
15 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh37 Chromosome 19, 19221599: 19221599
16 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh38 Chromosome 19, 19110790: 19110790
17 MT-CYB NC_012920.1: m.15096T> C single nucleotide variant Uncertain significance rs1057516073 GRCh37 Chromosome MT, 15096: 15096
18 MT-CYB NC_012920.1: m.15096T> C single nucleotide variant Uncertain significance rs1057516073 GRCh38 Chromosome MT, 15096: 15096
19 FDX2 NM_001031734.4(FDX2): c.431C> T (p.Pro144Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 10310616: 10310616
20 FDX2 NM_001031734.4(FDX2): c.431C> T (p.Pro144Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 10421292: 10421292

Expression for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Search GEO for disease gene expression data for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy.

Pathways for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Pathways related to Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 MT-TA MT-TL2 MT-TM MT-TW

GO Terms for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

Sources for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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45 MeSH
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58 OMIM
59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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