Cytoscape Web
Click node...

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
1 OMIM reference -
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
Cardiofaciocutaneous syndrome
Craniopharyngioma
Hairy cell leukemia
Hashimoto-Pritzker syndrome
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Adrenocortical carcinoma
Angelman syndrome
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Synonym(s):
- GSD due to liver and muscle phosphorylase kinase deficiency
- GSD type 9B
- GSD type IXb
- Glycogen storage disease type 9B
- Glycogen storage disease type IXb
- Glycogenosis due to liver and muscle phosphorylase kinase deficiency
- Glycogenosis type 9B
- Glycogenosis type IXb
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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
Gene symbol UniProt reference OMIM reference
PHKB Q93100172490
No signs/symptoms info available.