Cytoscape Web
Click node...


2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Alternating hemiplegia of childhood
Atelosteogenesis type I

ATP1A2 FLNB
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC1A3
(0.63)
FLNB



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Atelosteogenesis type I
FLNB



Alternating hemiplegia of childhood
Atelosteogenesis type I

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

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
1 OMIM reference -
1 MeSH reference: C535396

No signs/symptoms info available.