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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Glycogen storage disease due to liver phosphorylase kinase deficiency
Alternating hemiplegia of childhood

PHKA2 ATP1A2
PHKG2 ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

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

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

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

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

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

No signs/symptoms info available.