Details of Disease

General Information of Disease (ID: DISD5VAX)

• Disease Name: Alternating hemiplegia of childhood 1
• Synonyms: AHC1; alternating hemiplegia of childhood caused by mutation in ATP1A2; ATP1A2 alternating hemiplegia of childhood; alternating hemiplegia of childhood type 1; alternating hemiplegia of childhood 1
• Definition: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.
• Disease Hierarchy:
  DISB31JE: Alternating hemiplegia of childhood
  DISD5VAX: Alternating hemiplegia of childhood 1
• Disease Identifiers:
  MONDO ID: MONDO_0007087
  UMLS CUI: C3549447
  OMIM ID: 104290
  MedGen ID: 762361

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP1A2	TT5B6HJ	Strong	Autosomal dominant	[1]
ATP1A2	TT5B6HJ	Strong	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP1A2	OTCF8OWW	Strong	Autosomal dominant	[1]
ATP1A3	OTM8EG6H	Strong	Autosomal dominant	[3]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25.
• [3] ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052.