ODCs

Click node...

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
11 signs/symptoms

Huntington disease

Pyruvate dehydrogenase E3 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.63)	DLD

Citations in the biomedical literature:

Huntington disease		Pyruvate dehydrogenase E3 deficiency
	Synonym(s): - Huntington chorea		Synonym(s): - DLD deficiency - Dihydrolipoamide dehydrogenase deficiency - E3-deficient maple syrup urine disease

	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 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D006816		External references: 1 OMIM reference - No MeSH references

Huntington disease		Pyruvate dehydrogenase E3 deficiency
	Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Organic acid metabolism anomalies Frequent - Abnormal gait - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly Occasional - Hepatocellular liver disease / hepatic failure - Hypoglycemia