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1 OMIM reference -
3 associated genes
No signs/symptoms info
COMMON GENES: 3
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Intermittent maple syrup urine disease
Thiamine-responsive maple syrup urine disease

BCKDHA BCKDHA
BCKDHB BCKDHB
DBT DBT


COMMON
GENES
BCKDHA
BCKDHB
DBT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BCKDHA
(0.84)
BCKDHB



Citations in the biomedical literature:


Intermittent maple syrup urine disease
BCKDHA BCKDHB DBT
Thiamine-responsive maple syrup urine disease



Intermittent maple syrup urine disease
Thiamine-responsive maple syrup urine disease

Synonym(s):
- Intermittent BCKD deficiency
- Intermittent MSUD
- Intermittent branched-chain 2-ketoacid dehydrogenase deficiency

Synonym(s):
- Thiamine-responsive BCKD deficiency
- Thiamine-responsive MSUD
- Thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.