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

APP COL1A1
COL1A2


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 1
COL1A1 COL1A2



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Osteogenesis imperfecta type 1

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Adair-Dighton syndrome
- Mild osteogenesis imperfecta
- Non-deforming osteogenesis imperfecta
- OI type 1
- Van der Hoeve syndrome

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 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 1

(no data available)