ODCs

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

PROTEIN INTERACTIONS: 1

16 OMIM references -
4 associated genes
No signs/symptoms info

Pyridoxal phosphate-responsive seizures

Early-onset autosomal dominant Alzheimer disease


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

Citations in the biomedical literature:

Pyridoxal phosphate-responsive seizures		Early-onset autosomal dominant Alzheimer disease
	Synonym(s): - PNPO deficiency - PNPO-related neonatal epileptic encephalopathy - Pyridoxa-phosphate dependent seizures - Pyridoxamine 5'-oxidase deficiency - Pyridoxamine 5'-phosphate oxidase deficiency		Synonym(s): - EOFAD - Early-onset familial autosomal dominant Alzheimer disease - Familial Alzheimer disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		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		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 16 OMIM references - No MeSH references

No signs/symptoms info available.