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Severe intellectual deficit and progressive spastic paraplegia
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
1 associated gene
No signs/symptoms info
Severe intellectual deficit and progressive spastic paraplegia
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

AP4B1
(UniProt - OMIM)
 GRID2
(UniProt - OMIM)
AP4E1
(UniProt - OMIM)
AP4M1
(UniProt - OMIM)
AP4S1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AP4M1
(0.67)
GRID2


Citations in the biomedical literature:


Severe intellectual deficit and progressive spastic paraplegia
AP4B1 AP4E1 AP4M1 AP4S1
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
GRID2



Severe intellectual deficit and progressive spastic paraplegia
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Synonym(s):
- AP4 deficiency syndrome
Synonym(s):
- Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
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 recessive
External references:
4 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.