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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
Glycogen storage disease due to liver phosphorylase kinase deficiency

ATP1A2 PHKA2
ATP1A3 PHKG2
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC1A3
(0.63)
PHKG2



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2



Alternating hemiplegia of childhood
Glycogen storage disease due to liver phosphorylase kinase deficiency

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

Synonym(s):
- GSD due to liver phosphorylase kinase deficiency
- GSD type 9A
- GSD type 9C
- GSD type IXa
- GSD type IXc
- Glycogen storage disease type 9A
- Glycogen storage disease type 9C
- Glycogen storage disease type IXa
- Glycogen storage disease type IXc
- Glycogenosis due to liver phosphorylase kinase deficiency
- Glycogenosis type 9A
- Glycogenosis type 9C
- Glycogenosis type IXa
- Glycogenosis type IXc
- XLG

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.