Hyperkalemic Periodic Paralysis (HYPP)

Alias:
Familial Hyperkalemic Periodic Paralysis
Gamstorp Disease
Hypp
Gamstorp Episodic Adynamy
Hyperkpp
Hyperpp
Primary Hyperkalemic Periodic Paralysis
Adynamia Episodica Hereditaria
Adynamia Episodica Hereditaria with or Without Myotonia
Familial Hyperpp
Hyperkalemic Pp
Primary Hyperpp
Paralysis, Periodic, Hyperkalemic
Paralysis, Hyperkalemic Periodic
Periodic Paralysis Hyperkalemic
Periodic Paralysis Normokalemic
Periodic Hyperkalemic Paralysis
Potassium Aggravated Myotonia
Periodic Paralysis Eukalemic
Nkpp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperkalemic Periodic Paralysis, also known as familial hyperkalemic periodic paralysis, is related to myotonia, potassium-aggravated and periodic paralysis, and has symptoms including stridor, muscular stiffness and myalgia. An important gene associated with Hyperkalemic Periodic Paralysis is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Cardiac conduction. The drugs Diclofenamide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and emg abnormality
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/1000000
28
272
229

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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