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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Hyper-IgM syndrome type 2
Mitochondrial neurogastrointestinal encephalomyopathy

AICDA POLG
RRM2B
TYMP


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
Mitochondrial neurogastrointestinal encephalomyopathy
POLG RRM2B TYMP



Hyper-IgM syndrome type 2
Mitochondrial neurogastrointestinal encephalomyopathy

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

Synonym(s):
- MNGIE

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic 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: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.