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Phosphoenolpyruvate carboxykinase 1 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant spastic paraplegia type 13
1 OMIM reference -
1 associated gene
No signs/symptoms info
Phosphoenolpyruvate carboxykinase 1 deficiency
Autosomal dominant spastic paraplegia type 13

PCK1
(UniProt - OMIM)
 HSPD1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PCK1
(0.63)
HSPD1


Citations in the biomedical literature:


Phosphoenolpyruvate carboxykinase 1 deficiency
PCK1
Autosomal dominant spastic paraplegia type 13
HSPD1



Phosphoenolpyruvate carboxykinase 1 deficiency
Autosomal dominant spastic paraplegia type 13

Synonym(s):
- PEPCK1 deficiency
Synonym(s):
- SPG13
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537485
No signs/symptoms info available.