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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
4 associated genes
No signs/symptoms info
Pseudohypoaldosteronism type 2E
Intermediate maple syrup urine disease

CUL3 BCKDHA
BCKDHB
DBT
PPM1K


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CUL3
CUL3
(0.63)
(0.63)
BCKDHA
BCKDHB



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Intermediate maple syrup urine disease
BCKDHA BCKDHB DBT PPM1K



Pseudohypoaldosteronism type 2E
Intermediate maple syrup urine disease

Synonym(s):
- PHA2E

Synonym(s):
- Intermediate BCKD deficiency
- Intermediate MSUD
- Intermediate branched-chain 2-ketoacid dehydrogenase deficiency
- Intermediate branched-chain ketoaciduria
- Intermediate leucinosis

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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.