Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 (PEOA5)

Alias:

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 5

Peoa5

Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 5

Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 5

Progressive External Ophthalmoplegia, Autosomal Dominant 5

Autosomal Dominant Progressive External Ophthalmoplegia 5

Progressive External Ophthalmoplegia Autosomal Dominant 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 Dominant 5, also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5, is related to rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction and mitochondrial dna depletion syndrome 8a. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B). Related phenotypes are hearing impairment and anxiety

Related ID：

MALACARDS：PRG041

OMIM：613077

MESH：D017246