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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ocular albinism with congenital sensorineural deafness

APP MITF
TYR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Ocular albinism with congenital sensorineural deafness
MITF TYR



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ocular albinism with congenital sensorineural deafness

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Waardenburg syndrome type 2 with ocular albinism

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
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



Ocular albinism with congenital sensorineural deafness

(no data available)