Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 (PEOB5)

Alias:
Peob5
Progressive External Ophthalmoplegia, Autosomal Recessive 5
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 5
Progressive External Ophthalmoplegia with Mi Dna Deletions, Autosomal Recessive 5
Autosomal Recessive Progressive External Ophthalmoplegia 5
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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 5, is also known as peob5. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 is TOP3A (DNA Topoisomerase III Alpha). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and diplopia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
1

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
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
Year
IF
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