Details of Disease

General Information of Disease (ID: DIS5GF2M)

Disease Name Hypokalemic periodic paralysis, type 1
Synonyms HOKPP1; hypokalemic periodic paralysis, type 1
Disease Hierarchy
DISVIXI1: Hypokalemic periodic paralysis
DIS5GF2M: Hypokalemic periodic paralysis, type 1
Disease Identifiers
MONDO ID
MONDO_0042979
UMLS CUI
C3714580
OMIM ID
170400
MedGen ID
811387

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNJ18 TTVW8QH Limited Genetic Variation [1]
SCN4A TT84DRB Limited Genetic Variation [2]
CACNA1S TT94HRF Strong Autosomal dominant [3]
KCNJ2 TTH7UO3 Strong Genetic Variation [4]
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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 [5]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNA1S OT96MCM2 Strong Autosomal dominant [3]
DPYS OTLTUIVL Strong Genetic Variation [6]
FXYD1 OTNKT6GP Strong Biomarker [7]
KCNE3 OTKWKR91 Strong Genetic Variation [8]
SCN4A OT0MYDHC Definitive Autosomal dominant [5]
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References

1 A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.Clin Neurophysiol. 2016 Jun;127(6):2503-8. doi: 10.1016/j.clinph.2016.03.008. Epub 2016 Mar 17.
2 Electromyographic Features in a Chinese Cohort With Hereditary Skeletal Muscle Channelopathies.J Clin Neurophysiol. 2020 May;37(3):231-238. doi: 10.1097/WNP.0000000000000635.
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.
4 Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.Neuromuscul Disord. 2018 May;28(5):402-407. doi: 10.1016/j.nmd.2018.03.006. Epub 2018 Mar 9.
5 Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. Neurology. 2000 Jun 13;54(11):2179-81. doi: 10.1212/wnl.54.11.2179.
6 A novel sodium channel mutation in a family with hypokalemic periodic paralysis.Neurology. 1999 Dec 10;53(9):1932-6. doi: 10.1212/wnl.53.9.1932.
7 Phospholemman, a major regulator of skeletal muscle Na(+)/K(+)-ATPase, is not mutated in probands with hypokalemic periodic paralysis.Exp Ther Med. 2017 Oct;14(4):3229-3232. doi: 10.3892/etm.2017.4848. Epub 2017 Jul 28.
8 A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.J Clin Endocrinol Metab. 2002 Nov;87(11):4881-4. doi: 10.1210/jc.2002-020698.