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Severe intellectual deficit and progressive spastic paraplegia
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Benign familial epilepsy of childhood with rolandic spikes
2 OMIM references -
2 associated genes
No signs/symptoms info
Severe intellectual deficit and progressive spastic paraplegia
Benign familial epilepsy of childhood with rolandic spikes

AP4B1
(UniProt - OMIM)
 GRIN2A
(UniProt - OMIM)
AP4E1
(UniProt - OMIM)
 SRPX2
(UniProt - OMIM)
AP4M1
(UniProt - OMIM)
AP4S1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AP4M1
(0.63)
GRIN2A


Citations in the biomedical literature:


Severe intellectual deficit and progressive spastic paraplegia
AP4B1 AP4E1 AP4M1 AP4S1
Benign familial epilepsy of childhood with rolandic spikes
GRIN2A SRPX2



Severe intellectual deficit and progressive spastic paraplegia
Benign familial epilepsy of childhood with rolandic spikes

Synonym(s):
- AP4 deficiency syndrome
Synonym(s):
- Autosomal dominant BECRS
- Centrotemporal epilepsy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.