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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
10 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Autosomal dominant optic atrophy plus syndrome

APP MFN2
OPA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
OPA1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Autosomal dominant optic atrophy plus syndrome
MFN2 OPA1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Autosomal dominant optic atrophy plus syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- DOA+
- Optic atrophy - deafness- polyneuropathy - myopathy

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
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Autosomal dominant optic atrophy plus syndrome

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



Very frequent
- Insensitivity to pain
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensorineural deafness / hearing loss

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Areflexia / hyporeflexia
- Mild visual loss / impaired visual acuity

Occasional
- Abnormal VEP / Visual evoked potential
- Nerve conduction abnormality
- Strabismus / squint