Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 (PEOB1)

Alias:
Peob1
Chronic Progressive External Ophthalmoplegia
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Recessive, Type 1
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive, 1
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive
Progressive External Ophthalmoplegia, Autosomal Recessive 1
Autosomal Recessive Progressive External Ophthalmoplegia 1
Progressive External Ophthalmoplegia Autosomal Recessive
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 Recessive 1, also known as peob1, is related to chronic progressive external ophthalmoplegia and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 is POLG (DNA Polymerase Gamma, Catalytic Subunit). 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 visual impairment and optic atrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
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2
12
49

Medical Symptom

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Description
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No data available

Gene & Mutation

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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