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

AICDA RRM2B


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

Synonym(s):
- AID deficiency
- Activation-induced cytidine deaminase deficiency
- HIGM2

Synonym(s):
- Adult-onset CPEO with mitochondrial myopathy

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
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 blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.