ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Pyridoxine-dependent epilepsy

Hereditary cerebral hemorrhage with amyloidosis, Italian type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALDH7A1	(0.56)	APP

Citations in the biomedical literature:

Pyridoxine-dependent epilepsy		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): - Glutamate decarboxylase deficiency - Pyridoxine-responsive seizures - Vitamin B6-responsive seizures		Synonym(s): - HCHWA, Italian 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: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus

Pyridoxine-dependent epilepsy		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Very frequent - Autosomal recessive inheritance - EEG anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Metabolic anomalies - Movement disorder - 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		Very frequent - Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline