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3 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

POLG RRM2B
RRM2B
TYMP


COMMON
GENES
RRM2B



Citations in the biomedical literature:


Mitochondrial neurogastrointestinal encephalomyopathy
POLG RRM2B TYMP
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy



Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Synonym(s):
- MNGIE

Synonym(s):
- mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(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
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.