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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase phosphatase deficiency

PDHA1 PDP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDHA1
(0.55)
PDP1



Citations in the biomedical literature:


Pyruvate dehydrogenase E1-alpha deficiency
PDHA1
Pyruvate dehydrogenase phosphatase deficiency
PDP1



Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase phosphatase deficiency

Synonym(s):
- PDHAD
- Pyruvate decarboxylase deficiency
- Pyruvate dehydrogenase complex E1 component subunit alpha deficiency

Synonym(s):
- PDH phosphatase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- 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):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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:
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.