Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Osteogenesis imperfecta type 2

APP COL1A1
COL1A2
CRTAP
LEPRE1
PPIB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.52)
COL1A2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Osteogenesis imperfecta type 2
COL1A1 COL1A2 CRTAP LEPRE1 PPIB



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Osteogenesis imperfecta type 2

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Lethal osteogenesis imperfecta
- OI type 2

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

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



Osteogenesis imperfecta type 2

(no data available)