Cytoscape Web
Click node...


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

AP4B1 APP
AP4E1
AP4M1
AP4S1


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, Arctic type
APP



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

Synonym(s):
- AP4 deficiency syndrome

Synonym(s):
- HCHWA, Arctic 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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Severe intellectual deficit and progressive spastic paraplegia

(no data available)