Hypokalemic Periodic Paralysis, Type 1 (HOKPP1)

Alias:
Hypokalemic Periodic Paralysis
Westphall Disease
Hokpp
Westphal Disease
Hypopp
Familial Hypokalemic Periodic Paralysis
Hypokalemic Periodic Paralysis Type 1
Familial Periodic Paralysis
Hokpp1
Paralysis, Hypokalemic, Periodic, Type 1
Hypokalemic Familial Periodic Paralysis
Primary Hypokalemic Periodic Paralysis
Periodic Paralysis Hypokalemic 1
Paralysis, Hypokalemic, Periodic
Periodic Hypokalemic Paralysis
Periodic Paralysis I
Hypokpp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypokalemic Periodic Paralysis, Type 1, also known as hypokalemic periodic paralysis, is related to hypokalemic periodic paralysis, type 2 and thyrotoxic periodic paralysis, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Hypokalemic Periodic Paralysis, Type 1 is CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and CREB Pathway. The drugs Diclofenamide and Carbonic Anhydrase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and thyroid, and related phenotypes are periodic hypokalemic paresis and episodic hypokalemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/100000
48
498
132

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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