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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Juvenile Huntington disease
Pyruvate dehydrogenase E2 deficiency

HTT DLAT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.63)
DLAT



Citations in the biomedical literature:


Juvenile Huntington disease
HTT
Pyruvate dehydrogenase E2 deficiency
DLAT



Juvenile Huntington disease
Pyruvate dehydrogenase E2 deficiency

Synonym(s):
- JHD
- Juvenile Huntington chorea

Synonym(s):
- Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Pyruvate dehydrogenase complex component E2 deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
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
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.