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Leigh syndrome with cardiomyopathy
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pyruvate dehydrogenase E3-binding protein deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E3-binding protein deficiency

COA5
(UniProt - OMIM)
 PDHX
(UniProt - OMIM)
COX10
(UniProt - OMIM)
COX15
(UniProt - OMIM)
COX6B1
(UniProt - OMIM)
PDHA1
(UniProt - OMIM)
SCO2
(UniProt - OMIM)
SURF1
(UniProt - OMIM)
TACO1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PDHA1
(0.56)
PDHX


Citations in the biomedical literature:


Leigh syndrome with cardiomyopathy
COA5 COX10 COX15 COX6B1 PDHA1 SCO2
SURF1 TACO1
Pyruvate dehydrogenase E3-binding protein deficiency
PDHX



Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E3-binding protein deficiency

Synonym(s):
- Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
- Cardiomyopathy with myopathy due to COX deficiency
- Leigh disease with myopathy
Synonym(s):
- 2-oxoglutarate complex deficiency
- Branched chain alpha-ketoacid dehydrogenase complex deficiency
- Diaphorase deficiency
- Dihydrolipoyl dehydrogenase deficiency
- Glycine cleavage system L protein deficiency
- Lipoamide dehydrogenase deficiency
- Pyruvate dehydrogenase complex component E3 deficiency
- Pyruvate dehydrogenase protein X component deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.