Details of Disease | DrugMAP

General Information of Disease (ID: DISSQ9Z3)

Disease Name	Hypokalemic periodic paralysis, type 2
Synonyms	HOKPP2; hypokalemic periodic paralysis, type 2
Disease Hierarchy	DISVIXI1: Hypokalemic periodic paralysis DISCJ8DX: SCN4A-related channelopathy DISSQ9Z3: Hypokalemic periodic paralysis, type 2
Disease Identifiers	MONDO ID MONDO_0013234 MESH ID C567635 UMLS CUI C2750061 OMIM ID 613345 MedGen ID 413748

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	TT84DRB	Limited	Genetic Variation	[1]
KCNJ2	TTH7UO3	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN4A	DT7SZIQ	Strong	Autosomal dominant	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	OT0MYDHC	Strong	Autosomal dominant	[3]
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References

1	Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.Channels (Austin). 2019 Dec;13(1):110-119. doi: 10.1080/19336950.2019.1600967.
2	Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.Neurology. 2005 Oct 11;65(7):1083-9. doi: 10.1212/01.wnl.0000178888.03767.74.
3	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.