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Glycogen storage disease due to liver glycogen phosphorylase deficiency
1 OMIM reference -
1 associated gene
14 connected diseases
4 signs/symptoms
Disease Type of connection
Autosomal recessive Kenny-Caffey syndrome
Congenital bile acid synthesis defect type 1
D-2-hydroxyglutaric aciduria
Enchondromatosis
Familial leiomyomatosis
Familial melanoma
Fumaric aciduria
Large congenital melanocytic nevus
Maffucci syndrome
Oculocutaneous albinism type 2
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Sanjad-Sakati syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Synonym(s):
- GSD due to liver glycogen phosphorylase deficiency
- GSD type 6B
- Glycogen storage disease type 6B
- Glycogenosis due to liver glycogen phosphorylase deficiency
- Glycogenosis type 6B
- Hepatic glycogen phosphorylase deficiency
- Hepatic phosphorylase deficiency
- Hers disease
- Liver glycogen phosphorylase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
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
PYGL P06737613741
Very frequent
- Autosomal recessive inheritance
- Hypoglycemia
- Short stature / dwarfism / nanism
- Storage liver disease