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Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

HSD10 disease, infantile type

1 associated gene
No signs/symptoms info

Huntington disease

HSD10 disease, infantile type

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.68)	HSD17B10

Citations in the biomedical literature:

Huntington disease		HSD10 disease, infantile type
	Synonym(s): - Huntington chorea		Synonym(s): - 2-methyl-3-hydroxybutyric aciduria, classic type - 2-methyl-3-hydroxybutyric aciduria, infantile type - 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type - 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type - HSD10 deficiency, classic type - HSD10 deficiency, infantile type - HSD10 disease, classic type - MHBD deficiency, classic type - MHBD deficiency, infantile type

	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): (no data available)

	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: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: D006816		External references: No OMIM references 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
HSD10 disease, infantile type
(no data available)