Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 (PEOA3)

Alias:
Peoa3
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3
Chronic Progressive External Ophthalmoplegia
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 3
Progressive External Ophthalmoplegia, Autosomal Dominant, 3
Progressive External Ophthalmoplegia, Autosomal Dominant 3
Autosomal Dominant Progressive External Ophthalmoplegia 3
Progressive External Ophthalmoplegia Autosomal Dominant 3
Ocular Myopathy of Von Graefe-Fuchs
Mitochondrial Ocular Myopathy
Kearns-Sayre Syndrome
Graefe Disease
Cpeo
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3, also known as peoa3, is related to mitochondrial myopathy and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways is Primary ovarian insufficiency. 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 skeletal muscle and eye, and related phenotypes are seizure and dysarthria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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7
36
20

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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