Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
FGFR2-related bent bone dysplasia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

FGFR2 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR2
(0.56)
APP



Citations in the biomedical literature:


FGFR2-related bent bone dysplasia
FGFR2
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP



FGFR2-related bent bone dysplasia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Synonym(s):
- Perinatal lethal bent bone dysplasia

Synonym(s):
- HCHWA, Arctic type

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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 dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
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



FGFR2-related bent bone dysplasia

(no data available)