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1 associated gene
No signs/symptoms info
COMMON GENES: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Autosomal dominant progressive external ophthalmoplegia

C10ORF2 C10ORF2
POLG
POLG2
RRM2B
SLC25A4


COMMON
GENES
C10ORF2



Citations in the biomedical literature:


Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
C10ORF2
Autosomal dominant progressive external ophthalmoplegia
POLG POLG2 RRM2B SLC25A4



Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
- mtDNA depletion syndrome, hepatocerebrorenal form

Synonym(s):
- adPEO

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
5 OMIM references -
No MeSH references

No signs/symptoms info available.