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Pyruvate dehydrogenase E1-alpha deficiency
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E1-beta deficiency
Atypical hemolytic uremic syndrome with DGKE deficiency
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Argininosuccinic aciduria
Pyruvate dehydrogenase E2 deficiency
Familial isolated dilated cardiomyopathy
Pseudohypoaldosteronism type 2E
X-linked Charcot-Marie-Tooth disease type 6
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
Oxoglutaricaciduria
Williams syndrome
Synonym(s):
- PDHAD
- Pyruvate decarboxylase deficiency
- Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PDHA1 P08559300502
No signs/symptoms info available.