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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant progressive external ophthalmoplegia
Kearns-Sayre syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial neurogastrointestinal encephalomyopathy
B-cell chronic lymphocytic leukemia
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Hyper-IgM syndrome type 2
Synonym(s):
- Adult-onset CPEO with mitochondrial myopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
RRM2B Q7LG56604712
No signs/symptoms info available.