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Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
1 OMIM reference -
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
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
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:


Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
RRM2B
Hyper-IgM syndrome type 2
AICDA



Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Hyper-IgM syndrome type 2

Synonym(s):
- mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Synonym(s):
- AID deficiency
- Activation-induced cytidine deaminase deficiency
- HIGM2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.