Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hyperphosphatasia-intellectual deficiency syndrome

APP PGAP2
PGAP3
PIGO
PIGV


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Hyperphosphatasia-intellectual deficiency syndrome
PGAP2 PGAP3 PIGO PIGV



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hyperphosphatasia-intellectual deficiency syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- HPMR
- Mabry syndrome

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

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



Hyperphosphatasia-intellectual deficiency syndrome

(no data available)