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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Progressive supranuclear palsy - parkinsonism
Glycogen storage disease due to muscle phosphorylase kinase deficiency

MAPT PHKA1
PHKG1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPT
(0.63)
PHKG1



Citations in the biomedical literature:


Progressive supranuclear palsy - parkinsonism
MAPT
Glycogen storage disease due to muscle phosphorylase kinase deficiency
PHKA1 PHKG1



Progressive supranuclear palsy - parkinsonism
Glycogen storage disease due to muscle phosphorylase kinase deficiency

Synonym(s):
- PSP-p
- PSP-parkinsonism

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic
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
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.