Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Alias:
Melas Syndrome
Melas
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Juvenile Myopathy, Encephalopathy, Lactic Acidosis and Stroke
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes, also known as melas syndrome, is related to mitochondrial myopathy and lactic acidosis, and has symptoms including myalgia, hemiparesis and ophthalmoplegia. An important gene associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Complex I biogenesis. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are seizure and eeg abnormality
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Mit
Child
1-9/100000
85
488
256

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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CAS Number
Status
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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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