Details of Disease | DrugMAP

General Information of Disease (ID: DIS21WOL)

Disease Name	Hyperkalemic periodic paralysis
Synonyms	sodium channel muscle disease; hyperPP; familial hyperPP; adynamia episodica hereditaria with or without myotonia; hyperkalemic PP; Gamstorp episodic adynamy; hyperkalemic periodic paralysis; Gamstorp disease; familial hyperkalemic periodic paralysis (disorder) [ambiguous]; familial hyperkalemic periodic paralysis; normokalemic periodic paralysis, potassium-sensitive; adynamia episodica hereditaria; hyperKPP; primary hyperPP; HYPP; primary hyperkalemic periodic paralysis; hyperkalemic periodic paralysis, type 2
Definition	Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
Disease Hierarchy	DISD9YAA: Familial periodic paralysis DISCJ8DX: SCN4A-related channelopathy DIS21WOL: Hyperkalemic periodic paralysis
Disease Identifiers	MONDO ID MONDO_0008224 MESH ID D020513 UMLS CUI C0238357 OMIM ID 170500 MedGen ID 68665 HPO ID HP:0007215 SNOMED CT ID 304737009

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
CLCN1	TTUYAF3	Strong	Biomarker	[1]
SCN4A	TT84DRB	Definitive	Genetic Variation	[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	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNE3	OTKWKR91	Strong	Genetic Variation	[4]
SCN4A	OT0MYDHC	Definitive	Autosomal dominant	[3]
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References

1	A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30.
2	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.
3	Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991 Nov 29;67(5):1021-7. doi: 10.1016/0092-8674(91)90374-8.
4	Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.Neurotherapeutics. 2007 Apr;4(2):216-24. doi: 10.1016/j.nurt.2007.02.001.