Cytoscape Web
Click node...


2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Alternating hemiplegia of childhood
Familial drusen

ATP1A2 CFH
ATP1A3 EFEMP1
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Familial drusen
CFH EFEMP1



Alternating hemiplegia of childhood
Familial drusen

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

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

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.