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

APP AP4B1
AP4E1
AP4M1
AP4S1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- AP4 deficiency syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(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

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references

No signs/symptoms info available.