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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
4 associated genes
No signs/symptoms info
Alternating hemiplegia of childhood
Severe early-childhood-onset retinal dystrophy

ATP1A2 LCA5
ATP1A3 LRAT
CACNA1A RPE65
SLC1A3 SPATA7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATP1A2
ATP1A3
(0.63)
(0.63)
SPATA7
SPATA7



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Severe early-childhood-onset retinal dystrophy
LCA5 LRAT RPE65 SPATA7



Alternating hemiplegia of childhood
Severe early-childhood-onset retinal dystrophy

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

Synonym(s):
- EOSRD
- Early-onset severe retinal dystrophy
- SECORD

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: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.