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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
9 signs/symptoms
Lethal arteriopathy syndrome due to FBLN4 deficiency
Familial or sporadic hemiplegic migraine

EFEMP2 ATP1A2
CACNA1A
PRRT2
SCN1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EFEMP2
(0.63)
CACNA1A



Citations in the biomedical literature:


Lethal arteriopathy syndrome due to FBLN4 deficiency
EFEMP2
Familial or sporadic hemiplegic migraine
ATP1A2 CACNA1A PRRT2 SCN1A



Lethal arteriopathy syndrome due to FBLN4 deficiency
Familial or sporadic hemiplegic migraine

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
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:
No 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


Lethal arteriopathy syndrome due to FBLN4 deficiency

(no data available)