ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Huntington disease

Glycogen storage disease due to muscle beta-enolase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.63)	ENO3

Citations in the biomedical literature:

Huntington disease		Glycogen storage disease due to muscle beta-enolase deficiency
	Synonym(s): - Huntington chorea		Synonym(s): - GSD due to muscle beta-enolase deficiency - GSDXIII - Glycogenosis due to muscle beta-enolase deficiency - Glycogenosis type 13 - Muscle enolase deficiency - Muscular enolase deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - 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: adulthood Average age of death: normal Type of inheritance: autosomal recessive

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

Huntington disease
	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 - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline
Glycogen storage disease due to muscle beta-enolase deficiency
(no data available)