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Familial infantile bilateral striatal necrosis
2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Phosphoenolpyruvate carboxykinase 1 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial infantile bilateral striatal necrosis
Phosphoenolpyruvate carboxykinase 1 deficiency

ADAR
(UniProt - OMIM)
 PCK1
(UniProt - OMIM)
MT-ATP6
(UniProt - OMIM)
NUP62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NUP62
(0.63)
PCK1


Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Phosphoenolpyruvate carboxykinase 1 deficiency
PCK1



Familial infantile bilateral striatal necrosis
Phosphoenolpyruvate carboxykinase 1 deficiency

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis
Synonym(s):
- PEPCK1 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.