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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
22 OMIM references -
22 associated genes
7 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Cone rod dystrophy

APP ABCA4
ADAM9
AIPL1
C8ORF37
CACNA1F
CACNA2D4
CDHR1
CRX
GUCA1A
GUCY2D
OPN1LW
OPN1MW
PITPNM3
PROM1
PRPH2
RAB28
RAX2
RIMS1
RPGR
RPGRIP1
SEMA4A
UNC119


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
RAB28



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Cone rod dystrophy
ABCA4 ADAM9 AIPL1 C8ORF37 CACNA1F CACNA2D4
CDHR1 CRX GUCA1A GUCY2D OPN1LW OPN1MW
PITPNM3 PROM1 PRPH2 RAB28 RAX2 RIMS1
RPGR RPGRIP1 SEMA4A UNC119



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Cone rod dystrophy

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
(no synonyms)

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: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Cone rod dystrophy

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



Very frequent
- Night blindness / hemeralopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Autosomal recessive inheritance

Occasional
- Mild visual loss / impaired visual acuity