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Glycogen storage disease due to muscle phosphorylase kinase deficiency
1 OMIM reference -
2 associated genes
16 connected diseases
No signs/symptoms info
Disease Type of connection
Glycogen storage disease due to liver phosphorylase kinase deficiency
Angelman syndrome
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Mosaic variegated aneuploidy syndrome
Multiple endocrine neoplasia type 1
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Acute promyelocytic leukemia
Catecholaminergic polymorphic ventricular tachycardia
Hereditary chronic pancreatitis
Tropical pancreatitis
- 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

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PHKA1 P46020311870
PHKG1 Q16816172470
No signs/symptoms info available.