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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Autosomal dominant spastic paraplegia type 8
Glycogen storage disease due to liver phosphorylase kinase deficiency

KIAA0196 PHKA2
PHKG2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIAA0196
(0.49)
PHKA2



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 8
KIAA0196
Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2



Autosomal dominant spastic paraplegia type 8
Glycogen storage disease due to liver phosphorylase kinase deficiency

Synonym(s):
- SPG8

Synonym(s):
- GSD due to liver phosphorylase kinase deficiency
- GSD type 9A
- GSD type 9C
- GSD type IXa
- GSD type IXc
- Glycogen storage disease type 9A
- Glycogen storage disease type 9C
- Glycogen storage disease type IXa
- Glycogen storage disease type IXc
- Glycogenosis due to liver phosphorylase kinase deficiency
- Glycogenosis type 9A
- Glycogenosis type 9C
- Glycogenosis type IXa
- Glycogenosis type IXc
- XLG

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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 -
1 MeSH reference: C536867
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.