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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hyper-IgM syndrome type 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Hyper-IgM syndrome type 2

RRM2B
(UniProt - OMIM)
 AICDA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RRM2B
(0.63)
AICDA


Citations in the biomedical literature:


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
RRM2B
Hyper-IgM syndrome type 2
AICDA



Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Hyper-IgM syndrome type 2

Synonym(s):
- Adult-onset CPEO with mitochondrial myopathy
Synonym(s):
- AID deficiency
- Activation-induced cytidine deaminase deficiency
- HIGM2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.