Chronic Progressive External Ophthalmoplegia (PEO)

Alias:
Progressive External Ophthalmoplegia
Ophthalmoplegia, External, Progressive, Chronic
Ophthalmoplegia, Chronic Progressive External
Peo - [progressive External Ophthalmoplegia]
Ophthalmoplegia Plus Syndrome
Graefe Disease
Cpeo
Peo
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chronic Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1, and has symptoms including ophthalmoplegia An important gene associated with Chronic Progressive External Ophthalmoplegia is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related phenotypes are Strongly decreased CFP-tsO45G cell surface transport and pigmentation
Related ID:
MESH:D017246
ICD11:1698427219

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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23
134
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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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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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