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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Renal tubulopathy - encephalopathy - liver failure
Leigh syndrome with nephrotic syndrome

BCS1L BCS1L
COQ2
DLD
PDSS2


COMMON
GENES
BCS1L



Citations in the biomedical literature:


Renal tubulopathy - encephalopathy - liver failure
BCS1L
Leigh syndrome with nephrotic syndrome
COQ2 DLD PDSS2



Renal tubulopathy - encephalopathy - liver failure
Leigh syndrome with nephrotic syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Infantile subacute necrotizing encephalopathy with nephrotic syndrome
- Leigh disease with nephrotic syndrome

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
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:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.