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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Spinocerebellar ataxia type 29
Huntington disease

ITPR1 HTT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITPR1
(0.73)
HTT



Citations in the biomedical literature:


Spinocerebellar ataxia type 29
ITPR1
Huntington disease
HTT



Spinocerebellar ataxia type 29
Huntington disease

Synonym(s):
- Congenital nonprogressive spinocerebellar ataxia
- SCA29

Synonym(s):
- Huntington chorea

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

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

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



Spinocerebellar ataxia type 29

(no data available)