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

APP PNPO


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

Synonym(s):
- HCHWA, Arctic 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):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(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

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Pyridoxal phosphate-responsive seizures

(no data available)