ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

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

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Lafora disease

GYS1	(UniProt - OMIM)		EPM2A	(UniProt - OMIM)
			NHLRC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GYS1 GYS1	(0.63) (0.52)	NHLRC1 EPM2A

Citations in the biomedical literature:

Glycogen storage disease due to muscle and heart glycogen synthase deficiency		Lafora disease
	Synonym(s): - GSD due to muscle and heart glycogen synthase deficiency - GSD type 0b - Glycogen storage disease type 0b - Glycogenosis due to muscle and heart glycogen synthase deficiency - Glycogenosis type 0b		Synonym(s): - Progressive myoclonic epilepsy type 2

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic 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: <1 / 1 000 000 Average age onset: childhood Average age of death: child / adolescent Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D020192

No signs/symptoms info available.