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Pyruvate dehydrogenase E1-beta deficiency
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
Pyruvate dehydrogenase E2 deficiency
Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Fibronectin glomerulopathy
17p13.3 microduplication syndrome
Dedifferentiated liposarcoma
Distal 17p13.3 microdeletion syndrome
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Miller-Dieker syndrome
Multiple endocrine neoplasia type 1
Pseudohypoaldosteronism type 2E
Short stature due to growth hormone qualitative anomaly
Well-differentiated liposarcoma
Familial isolated congenital asplenia
Oxoglutaricaciduria
Synonym(s):
- PDHBD
- Pyruvate dehydrogenase complex E1 component subunit beta 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: childhood
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
PDHB P11177179060
No signs/symptoms info available.