Cytoscape Web
Click node...

Pyridoxine-dependent epilepsy
1 OMIM reference -
1 associated gene
13 connected diseases
12 signs/symptoms
Disease Type of connection
17p13.3 microduplication syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Distal 17p13.3 microdeletion syndrome
Fabry disease
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Miller-Dieker syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Glutamate decarboxylase deficiency
- Pyridoxine-responsive seizures
- Vitamin B6-responsive seizures
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536254
Gene symbol UniProt reference OMIM reference
ALDH7A1 P49419107323
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