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Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Triose phosphate-isomerase deficiency

1 OMIM reference -
1 associated gene
9 signs/symptoms

Huntington disease

Triose phosphate-isomerase deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.63)	TPI1

Citations in the biomedical literature:

Huntington disease		Triose phosphate-isomerase deficiency
	Synonym(s): - Huntington chorea		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Huntington disease		Triose phosphate-isomerase 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 - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline		Very frequent - Autosomal recessive inheritance - Functional anomalies of the nervous system - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy Frequent - Diaphragmatic hernia / defect / agenesis - Stillbirth / neonatal death Occasional - Cardiomyopathy / hypertrophic / dilated - Nerve conduction abnormality