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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
9 signs/symptoms
Familial drusen
Familial or sporadic hemiplegic migraine

CFH ATP1A2
EFEMP1 CACNA1A
PRRT2
SCN1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EFEMP1
(0.63)
CACNA1A



Citations in the biomedical literature:


Familial drusen
CFH EFEMP1
Familial or sporadic hemiplegic migraine
ATP1A2 CACNA1A PRRT2 SCN1A



Familial drusen
Familial or sporadic hemiplegic migraine

Synonym(s):
- DHRD
- Dominant drusen
- Dominant radial drusen
- Doyne honeycomb retinal dystrophy
- Malattia leventinese

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
4 OMIM references -
No MeSH references

Familial or sporadic hemiplegic migraine

Very frequent
- Autosomal dominant inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Movement disorder

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Nystagmus

Occasional
- EEG anomalies
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Familial drusen

(no data available)