MEOAL
MCID: MTC145
MIFTS: 32

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

Categories: Eye diseases, Genetic diseases, Neuronal 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 57
Mitochondrial Myopathy, Episodic, with Optic Atrophy and Reversible Leukoencephalopathy 57 72
Meoal 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy:
Inheritance autosomal recessive inheritance mitochondrial inheritance


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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 pthirus pubis infestation and lice infestation. 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 skeletal muscle, and related phenotypes are spasticity and hyperreflexia

UniProtKB/Swiss-Prot : 72 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy: An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy.

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

Graphical network of the top 20 diseases related to Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy:



Diseases related to Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy

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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 hyperreflexia 31 very rare (1%) HP:0001347
3 nystagmus 31 very rare (1%) HP:0000639
4 hypothyroidism 31 very rare (1%) HP:0000821
5 visual impairment 31 very rare (1%) HP:0000505
6 optic atrophy 31 very rare (1%) HP:0000648
7 microcytic anemia 31 very rare (1%) HP:0001935
8 elevated serum creatine kinase 31 very rare (1%) HP:0003236
9 increased serum lactate 31 very rare (1%) HP:0002151
10 neutropenia 31 very rare (1%) HP:0001875
11 rhabdomyolysis 31 very rare (1%) HP:0003201
12 ptosis 31 HP:0000508
13 muscle weakness 31 HP:0001324
14 macroglossia 31 HP:0000158
15 hepatomegaly 31 HP:0002240
16 motor delay 31 HP:0001270
17 myalgia 31 HP:0003326
18 pes cavus 31 HP:0001761
19 hyporeflexia 31 HP:0001265
20 mitochondrial myopathy 31 HP:0003737
21 generalized hypotonia 31 HP:0001290
22 difficulty walking 31 HP:0002355
23 muscle spasm 31 HP:0003394
24 sensorimotor neuropathy 31 HP:0007141
25 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
optic atrophy (in some patients)
nystagmus (in some patients)
visual impairment (in some patients)

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
hyporeflexia (in some patients)
sensorimotor peripheral neuropathy

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

Muscle Soft Tissue:
myalgia
muscle cramps
ragged red fibers
muscle weakness, episodic
mitochondrial myopathy, progressive
more
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 (Updated 20-May-2021)

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:

40
Eye, Skeletal Muscle

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

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

(show all 11)
# Title Authors PMID Year
1
A novel complex neurological phenotype due to a homozygous mutation in FDX2. 57 6
30010796 2018
2
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
3
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. 6
25873012 2015
4
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. 57
24281368 2014
5
A disease-causing point mutation in human mitochondrial tRNAMet rsults in tRNA misfolding leading to defects in translational initiation and elongation. 6
18835817 2008
6
Pure myopathy associated with a novel mitochondrial tRNA gene mutation. 6
16476954 2006
7
A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance. 6
9633749 1998
8
A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. 6
9673981 1998
9
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. 6
9012410 1997
10
Myopathy with atypical mitochondria in type I skeletal muscle fibers. A histochemical and ultrastructural study. 57
5338697 1967
11
New myopathy with mitochondrial enzyme hyperactivity. Histochemical demonstration. 57
6071254 1967

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 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TW m.5521G>A SNV Pathogenic 9556 rs199474673 GRCh37: MT:5521-5521
GRCh38: MT:5521-5521
2 MT-TM m.4409T>C SNV Pathogenic 9578 rs118203884 GRCh37: MT:4409-4409
GRCh38: MT:4409-4409
3 MT-TL2 m.12320A>G SNV Pathogenic 9587 rs121434463 GRCh37: MT:12320-12320
GRCh38: MT:12320-12320
4 MT-TA m.5591G>A SNV Pathogenic 9625 rs121434458 GRCh37: MT:5591-5591
GRCh38: MT:5591-5591
5 MT-TA NC_012920.1:m.5631G>A SNV Pathogenic 162369 rs786200950 GRCh37: MT:5631-5631
GRCh38: MT:5631-5631
6 MT-TA NC_012920.1:m.5610G>A SNV Pathogenic 162370 rs786200951 GRCh37: MT:5610-5610
GRCh38: MT:5610-5610
7 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Pathogenic 18249 rs121912683 GRCh37: 4:186066174-186066174
GRCh38: 4:185145020-185145020
8 MT-TE m.14709T>C SNV Pathogenic 9617 rs121434453 GRCh37: MT:14709-14709
GRCh38: MT:14709-14709
9 FDX2 NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu) SNV Likely pathogenic 623644 rs888630930 GRCh37: 19:10421292-10421292
GRCh38: 19:10310616-10310616
10 LARS2 NM_015340.4(LARS2):c.308G>A (p.Arg103His) SNV Likely pathogenic 691525 rs757204777 GRCh37: 3:45441810-45441810
GRCh38: 3:45400318-45400318
11 SLC25A42 NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) SNV Likely pathogenic 219191 rs864321624 GRCh37: 19:19221599-19221599
GRCh38: 19:19110790-19110790
12 MT-CYB NC_012920.1:m.15096T>C SNV Uncertain significance 370063 rs1057516073 GRCh37: MT:15096-15096
GRCh38: MT:15096-15096
13 LARS2-AS1 , LARS2 NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) SNV Uncertain significance 226694 rs116826217 GRCh37: 3:45537795-45537795
GRCh38: 3:45496303-45496303
14 FDX2 NM_001031734.4(FDX2):c.10A>T (p.Met4Leu) SNV Uncertain significance 143059 rs587777600 GRCh37: 19:10426672-10426672
GRCh38: 19:10315996-10315996
15 PUS1 NM_025215.6(PUS1):c.1047C>T (p.Asn349=) SNV Likely benign 721364 rs145061048 GRCh37: 12:132426339-132426339
GRCh38: 12:131941794-131941794
16 PUS1 NM_025215.6(PUS1):c.1065G>T (p.Pro355=) SNV Likely benign 512031 rs147555676 GRCh37: 12:132426357-132426357
GRCh38: 12:131941812-131941812
17 PUS1 NM_025215.6(PUS1):c.1197C>T (p.Phe399=) SNV Benign 138854 rs35461276 GRCh37: 12:132426489-132426489
GRCh38: 12:131941944-131941944
18 PUS1 NM_025215.6(PUS1):c.345C>T (p.Asp115=) SNV Benign 138857 rs145798848 GRCh37: 12:132416761-132416761
GRCh38: 12:131932216-131932216
19 PUS1 NM_025215.6(PUS1):c.364C>A (p.Arg122=) SNV Benign 138858 rs142954643 GRCh37: 12:132416780-132416780
GRCh38: 12:131932235-131932235
20 PUS1 NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) SNV Benign 138859 rs76655496 GRCh37: 12:132416813-132416813
GRCh38: 12:131932268-131932268
21 PUS1 NM_025215.6(PUS1):c.621G>A (p.Thr207=) SNV Benign 215035 rs142044204 GRCh37: 12:132425913-132425913
GRCh38: 12:131941368-131941368
22 PUS1 NM_025215.6(PUS1):c.999G>C (p.Leu333=) SNV Benign 138853 rs150359622 GRCh37: 12:132426291-132426291
GRCh38: 12:131941746-131941746

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy:

72
# Symbol AA change Variation ID SNP ID
1 FDX2 p.Pro144Leu VAR_082100 rs888630930

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
11.34 MT-TW MT-TM MT-TL2 MT-TE MT-TA LARS2

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

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 SLC25A42 SLC25A4 LARS2 FDX2

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

# Name GO ID Score Top Affiliating Genes
1 ADP transport GO:0015866 8.62 SLC25A42 SLC25A4

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

# Name GO ID Score Top Affiliating Genes
1 ATP transmembrane transporter activity GO:0005347 8.62 SLC25A42 SLC25A4

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

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
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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71 UMLS via Orphanet
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