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Pyruvate dehydrogenase E3-binding protein deficiency
1 OMIM reference -
1 associated gene
16 connected diseases
No signs/symptoms info
Disease Type of connection
Pyruvate dehydrogenase E2 deficiency
Leigh syndrome with nephrotic syndrome
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E1-beta deficiency
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Autosomal dominant macrothrombocytopenia
Multiple endocrine neoplasia type 1
Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E1-alpha deficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Cardiomyopathy - hypotonia - lactic acidosis
Oxoglutaricaciduria
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 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: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PDHX O00330608769
No signs/symptoms info available.