Cytoscape Web
Click node...

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Spinocerebellar ataxia type 29
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Spinocerebellar ataxia type 29

GRM1
(UniProt - OMIM)
 ITPR1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GRM1
(0.52)
ITPR1


Citations in the biomedical literature:


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
GRM1
Spinocerebellar ataxia type 29
ITPR1



Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Spinocerebellar ataxia type 29

Synonym(s):
- Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Synonym(s):
- Congenital nonprogressive spinocerebellar ataxia
- SCA29
Classification (Orphanet):
- Inborn errors of metabolism
- 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 recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.