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

COL4A1 APP
COL4A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A1
COL4A2
(0.52)
(0.52)
APP
APP



Citations in the biomedical literature:


Familial porencephaly
COL4A1 COL4A2
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP



Familial porencephaly
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Arctic type

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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:
2 OMIM references -
1 MeSH reference: C536850
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



Familial porencephaly

(no data available)