ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Pyridoxine-dependent epilepsy

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALDH7A1	(0.63)	ASNS

Citations in the biomedical literature:

Pyridoxine-dependent epilepsy		Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
	Synonym(s): - Glutamate decarboxylase deficiency - Pyridoxine-responsive seizures - Vitamin B6-responsive seizures		Synonym(s): - Asparagine synthetase deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536254		External references: 1 OMIM reference - No MeSH references

Pyridoxine-dependent epilepsy
	Very frequent - Autosomal recessive inheritance - EEG anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Metabolic anomalies - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Hypotonia Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Hepatomegaly / liver enlargement (excluding storage disease) - Strabismus / squint
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
(no data available)