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5 OMIM references -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
7 signs/symptoms
Achromatopsia
Hereditary cerebral hemorrhage with amyloidosis, Italian type

CNGA3 APP
CNGB3
GNAT2
PDE6C
PDE6H
RPGR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GNAT2
PDE6H
(0.56)
(0.56)
APP
APP



Citations in the biomedical literature:


Achromatopsia
CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR

Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Achromatopsia
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- ACHM
- Complete or incomplete color blindness
- Pingelapese blindness
- Rod monochromacy
- Rod monochromatism
- Total color blindness

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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
5 OMIM references -
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



Achromatopsia

(no data available)