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Bothnia retinal dystrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Italian type
1 OMIM reference -
1 associated gene
7 signs/symptoms
Bothnia retinal dystrophy
Hereditary cerebral hemorrhage with amyloidosis, Italian type

RLBP1
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RLBP1
(0.56)
APP


Citations in the biomedical literature:


Bothnia retinal dystrophy
RLBP1
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Bothnia retinal dystrophy
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- Västerbotten dystrophy
Synonym(s):
- HCHWA, Italian type
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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, Italian type

Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Transient cerebral ischemia / stroke

Frequent
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus



Bothnia retinal dystrophy

(no data available)