ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Pyridoxal phosphate-responsive seizures

Hereditary cerebral hemorrhage with amyloidosis, Arctic type


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

Citations in the biomedical literature:

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

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)