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Glycogen storage disease due to hepatic glycogen synthase deficiency
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Intermittent hydrarthrosis
TRAPS syndrome
Synonym(s):
- GSD due to hepatic glycogen synthase deficiency
- GSD type 0a
- Glycogen storage disease due to liver glycogen synthase deficiency
- Glycogen storage disease type 0a
- Glycogenosis type 0a
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GYS2 P54840138571
No signs/symptoms info available.