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Pyridoxal phosphate-responsive seizures
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- PNPO deficiency
- PNPO-related neonatal epileptic encephalopathy
- Pyridoxa-phosphate dependent seizures
- Pyridoxamine 5'-oxidase deficiency
- Pyridoxamine 5'-phosphate oxidase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PNPO Q9NVS9603287
No signs/symptoms info available.