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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
4 associated genes
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Severe early-childhood-onset retinal dystrophy

APP LCA5
LRAT
RPE65
SPATA7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
SPATA7



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Severe early-childhood-onset retinal dystrophy
LCA5 LRAT RPE65 SPATA7



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Severe early-childhood-onset retinal dystrophy

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- EOSRD
- Early-onset severe retinal dystrophy
- SECORD

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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



Severe early-childhood-onset retinal dystrophy

(no data available)