ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
No signs/symptoms info

Classic maple syrup urine disease

Pseudohypoaldosteronism type 2E


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

Citations in the biomedical literature:

Classic maple syrup urine disease		Pseudohypoaldosteronism type 2E
	Synonym(s): - Classic BCKD deficiency - Classic MSUD - Classic branched-chain 2-ketoacid dehydrogenase deficiency - Classic branched-chain ketoaciduria - Classic leucinosis		Synonym(s): - PHA2E

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - 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.