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Pyruvate dehydrogenase E1-alpha deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Atypical hemolytic uremic syndrome with DGKE deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pyruvate dehydrogenase E1-alpha deficiency
Atypical hemolytic uremic syndrome with DGKE deficiency

PDHA1
(UniProt - OMIM)
 DGKE
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PDHA1
(0.76)
DGKE


Citations in the biomedical literature:


Pyruvate dehydrogenase E1-alpha deficiency
PDHA1
Atypical hemolytic uremic syndrome with DGKE deficiency
DGKE



Pyruvate dehydrogenase E1-alpha deficiency
Atypical hemolytic uremic syndrome with DGKE deficiency

Synonym(s):
- PDHAD
- Pyruvate decarboxylase deficiency
- Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Synonym(s):
- Atypical HUS with DGKE deficiency
- D-HUS with DGKE deficiency
- Hemolytic-uremic syndrome without diarrhea with DGKE deficiency
- aHUS with DGKE deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
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.