Cytoscape Web
Click node...

Pyruvate dehydrogenase E1-alpha deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Leigh syndrome with cardiomyopathy
8 associated genes
No signs/symptoms info
Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome with cardiomyopathy

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

COMMON
GENES 		PDHA1


Citations in the biomedical literature:


Pyruvate dehydrogenase E1-alpha deficiency
PDHA1
Leigh syndrome with cardiomyopathy
COA5 COX10 COX15 COX6B1 SCO2
SURF1 TACO1



Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome with cardiomyopathy

Synonym(s):
- PDHAD
- Pyruvate decarboxylase deficiency
- Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Synonym(s):
- Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
- Cardiomyopathy with myopathy due to COX deficiency
- Leigh disease with myopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: x-linked dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.