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Pyridoxal phosphate-responsive seizures
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pyridoxal phosphate-responsive seizures
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

PNPO
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PNPO
(0.56)
APP


Citations in the biomedical literature:


Pyridoxal phosphate-responsive seizures
PNPO
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP



Pyridoxal phosphate-responsive seizures
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

Synonym(s):
- PNPO deficiency
- PNPO-related neonatal epileptic encephalopathy
- Pyridoxa-phosphate dependent seizures
- Pyridoxamine 5'-oxidase deficiency
- Pyridoxamine 5'-phosphate oxidase deficiency
Synonym(s):
- HCHWA, Flemish type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: unknown
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.