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Pseudohypoaldosteronism type 2E
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pseudohypoaldosteronism type 2E
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

CUL3
(UniProt - OMIM)
 LDHB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CUL3
(0.63)
LDHB


Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
LDHB



Pseudohypoaldosteronism type 2E
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

Synonym(s):
- PHA2E
Synonym(s):
- GSD due to lactate dehydrogenase H-subunit deficiency
- Glycogenosis due to lactate dehydrogenase H-subunit deficiency
- LDH-H subunit deficiency
- Lactate dehydrogenase B deficiency
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.