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Cardiomyopathy - hypotonia - lactic acidosis
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pyruvate dehydrogenase E3-binding protein deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Cardiomyopathy - hypotonia - lactic acidosis
Pyruvate dehydrogenase E3-binding protein deficiency

SLC25A3
(UniProt - OMIM)
 PDHX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SLC25A3
(0.49)
PDHX


Citations in the biomedical literature:


Cardiomyopathy - hypotonia - lactic acidosis
SLC25A3
Pyruvate dehydrogenase E3-binding protein deficiency
PDHX



Cardiomyopathy - hypotonia - lactic acidosis
Pyruvate dehydrogenase E3-binding protein deficiency

Synonym(s):
(no synonyms)

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 cardiac disease
- Rare genetic 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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.