Details of Disease

General Information of Disease (ID: DIS25FT5)

Disease Name Alternating hemiplegia of childhood 2
Synonyms AHC2; alternating hemiplegia of childhood 2; alternating hemiplegia of childhood type 2; alternating hemiplegia of childhood caused by mutation in ATP1A3; ATP1A3 alternating hemiplegia of childhood
Definition Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.
Disease Hierarchy
DISB31JE: Alternating hemiplegia of childhood
DISRW48Z: ATP1A3-associated neurological disorder
DIS25FT5: Alternating hemiplegia of childhood 2
Disease Identifiers
MONDO ID
MONDO_0013900
UMLS CUI
C3553788
OMIM ID
614820
MedGen ID
766702

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
ATP1A3 OTM8EG6H 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.