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

BCS1L
(UniProt - OMIM)
 BCS1L
(UniProt - OMIM)
COQ2
(UniProt - OMIM)
DLD
(UniProt - OMIM)
PDSS2
(UniProt - OMIM)

COMMON
GENES 		BCS1L


Citations in the biomedical literature:


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



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

Synonym(s):
- Infantile subacute necrotizing encephalopathy with nephrotic syndrome
- Leigh disease with nephrotic syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
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:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.