3 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

mutation in twinkle gene

Also Known As:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3; Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Mitochondrial Myopathies: 872
    - Chronic Progressive External Ophthalmoplegia: 575
      - 3 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions: 1
Nervous System Diseases: 14178
Eye Diseases: 3522
- Ocular Motility Disorders: 514
  - Ophthalmoplegia: 867
    - Chronic Progressive External Ophthalmoplegia: 575
      - 3 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions: 1
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Mitochondrial Myopathies: 872
      - Chronic Progressive External Ophthalmoplegia: 575
        3 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions: 1
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Chronic Disease: 25762
      - Chronic Progressive External Ophthalmoplegia: 575
        3 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions: 1
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Paralysis: 14164
      - Ophthalmoplegia: 867
        Chronic Progressive External Ophthalmoplegia: 575
        3 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions: 1

Related Diseases

1.	Sensorineural Hearing Loss
2.	Gonadal dysgenesis XX type deafness

Experts

1.	Kanaya, Yuhei: 1 article (01/2020)
2.	Kawakami, Hideshi: 1 article (01/2020)
3.	Kume, Kodai: 1 article (01/2020)
4.	Kurashige, Takashi: 1 article (01/2020)
5.	Matsuda, Yukiko: 1 article (01/2020)
6.	Miyamoto, Ryosuke: 1 article (01/2020)
7.	Morino, Hiroyuki: 1 article (01/2020)
8.	Ohsawa, Ryosuke: 1 article (01/2020)
9.	Tada, Yui: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 3 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions:

1.	Mitochondrial DNA (mtDNA)IBA 01/01/2020 - "The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural hearing loss in both males and females and gonadal dysfunction in females. "