Hypokalemic Periodic Paralysis, Type 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Hypokalemic Periodic Paralysis, Type 1:
Orphanet epidemiological data:53
hypokalemic periodic paralysis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy
Penetrance: the penetrance of hokpp appears to depend on the specific pathogenic variant and the gender of the affected individual. in general, among individuals with pathogenic variants, females have fewer symptoms than males:...
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
ICD10: 30 29
Rare neurological diseases
NIH Rare Diseases:47 Hypokalemic periodic paralysis (HOKPP) is a condition that causes episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). Episodes typically involve a temporary inability to move muscles in the arms and legs. The first attack usually occurs in childhood or adolescence. Attacks can last for hours or days, and the frequency of attacks varies among affected people. The frequency is usually highest between the ages of 15 and 35, and then decreases with age. Some people with HOKPP also develop late-onset proximal myopathy. HOKPP can be caused by mutations in the CACNA1S, SCN4A, or KCNJ18 gene. Inheritance is autosomal dominant. Treatment varies depending on the intensity and duration of attacks. Minor attacks may resolve spontaneously, while treatment for moderate or severe attacks may involve ingesting oral potassium salts or intravenous potassium infusion. Last updated: 10/4/2016
MalaCards based summary: Hypokalemic Periodic Paralysis, Type 1, also known as hypokalemic periodic paralysis, is related to hypokalemic periodic paralysis, type 2 and familial periodic paralysis, and has symptoms including myopathy, hypokalemia and episodic flaccid weakness. An important gene associated with Hypokalemic Periodic Paralysis, Type 1 is CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S), and among its related pathways are NCAM1 interactions and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Related mouse phenotypes are mortality/aging and behavior/neurological.
Genetics Home Reference:25 Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life.
OMIM:51 There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP,... (170400) more...
UniProtKB/Swiss-Prot:69 Periodic paralysis hypokalemic 1: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.
Wikipedia:70 Hypokalemic periodic paralysis (hypoKPP) is a rare, autosomal dominant channelopathy characterized by... more...
GeneReviews for NBK1338
Human phenotypes related to Hypokalemic Periodic Paralysis, Type 1:63 53 (show all 19)
UMLS symptoms related to Hypokalemic Periodic Paralysis, Type 1:muscle cramp, muscle rigidity, muscle spasticity, sciatica, muscle weakness, myalgia, hyperexplexia
Drugs for Hypokalemic Periodic Paralysis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Search NIH Clinical Center for Hypokalemic Periodic Paralysis, Type 1
MGI Mouse Phenotypes related to Hypokalemic Periodic Paralysis, Type 1:40
UniProtKB/Swiss-Prot genetic disease variations for Hypokalemic Periodic Paralysis, Type 1:69
Clinvar genetic disease variations for Hypokalemic Periodic Paralysis, Type 1:5 (show all 16)
Search GEO for disease gene expression data for Hypokalemic Periodic Paralysis, Type 1.
Pathways related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:(show all 13)
Cellular components related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:
Biological processes related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet