ODCs

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Glycogen storage disease due to muscle phosphorylase kinase deficiency

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Glycogen storage disease due to liver phosphorylase kinase deficiency

2 OMIM references -
2 associated genes
No signs/symptoms info

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Glycogen storage disease due to liver phosphorylase kinase deficiency

PHKA1	(UniProt - OMIM)		PHKA2	(UniProt - OMIM)
PHKG1	(UniProt - OMIM)		PHKG2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKA1 PHKG1	(0.72) (0.52)	PHKG2 PHKG2

Citations in the biomedical literature:

Glycogen storage disease due to muscle phosphorylase kinase deficiency		Glycogen storage disease due to liver phosphorylase kinase deficiency
	Synonym(s): - GSD due to muscle phosphorylase kinase deficiency - GSD type 9D - GSD type 9E - GSD type IXd - GSD type IXe - Glycogen storage disease type 9D - Glycogen storage disease type 9E - Glycogen storage disease type IXd - Glycogen storage disease type IXe - Glycogenosis due to muscle phosphorylase kinase deficiency - Glycogenosis type 9D - Glycogenosis type 9E - Glycogenosis type IXd - Glycogenosis type IXe		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): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

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

No signs/symptoms info available.