Details of Disease

General Information of Disease (ID: DIS93J7H)

Disease Name Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
Synonyms EPD; pyridoxine-dependent epilepsy; AASA dehydrogenase deficiency; epilepsy, pyridoxine-dependent; Epd; pyridoxine dependency with seizures; pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
Disease Hierarchy
DISVYADQ: Pyridoxine-dependent epilepsy
DIS93J7H: Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALDH7A1 OTV57BZD Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.