Cytoscape Web
Click node...

Severe intellectual deficit and progressive spastic paraplegia
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe intellectual deficit and progressive spastic paraplegia
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AP4S1
(0.56)
APP


Citations in the biomedical literature:


Severe intellectual deficit and progressive spastic paraplegia
AP4B1 AP4E1 AP4M1 AP4S1
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP



Severe intellectual deficit and progressive spastic paraplegia
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

Synonym(s):
- AP4 deficiency syndrome
Synonym(s):
- HCHWA, Flemish type
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
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:
(no data available)
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.