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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 13
Glycogen storage disease due to liver phosphorylase kinase deficiency

HSPD1 PHKA2
PHKG2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.63)
PHKG2



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2



Autosomal dominant spastic paraplegia type 13
Glycogen storage disease due to liver phosphorylase kinase deficiency

Synonym(s):
- SPG13

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: C537485
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.