MCID: HYP052
MIFTS: 55

Hyperkalemic Periodic Paralysis

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hyperkalemic Periodic Paralysis

MalaCards integrated aliases for Hyperkalemic Periodic Paralysis:

Name: Hyperkalemic Periodic Paralysis 57 12 76 24 53 25 37 55 6 15 73
Familial Hyperkalemic Periodic Paralysis 12 25 29 6
Gamstorp Disease 57 53 25 75
Adynamia Episodica Hereditaria with or Without Myotonia 57 53 75
Hyperkalemic Periodic Paralysis, Type 2 57 13 40
Hypp 57 53 75
Gamstorp Episodic Adynamy 53 25
Hyperpp 24 25
Primary Hyperkalemic Periodic Paralysis 25
Paralysis, Hyperkalemic Periodic 44
Periodic Paralysis Hyperkalemic 75
Periodic Paralysis Normokalemic 75
Adynamia Episodica Hereditaria 25
Sodium Channel Muscle Disease 53
Potassium Aggravated Myotonia 73
Periodic Paralysis Eukalemic 75
Hyperkpp 25
Nkpp 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
allelic disorder to potassium-aggravated myotonia
allelic disorder to hypokalemic periodic paralysis (hokpp, )
variable phenotype (myotonia may or may not be present)
acetazolamide is often effective
allelic disorder to paramyotonia congenita


HPO:

32
hyperkalemic periodic paralysis:
Mortality/Aging death in infancy death in early adulthood
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Usually, the penetrance is high (>90%). a few individuals with rare heterozygous pathogenic variants do not present with clinically detectable symptoms but have signs of myotonia detectable by emg only [mcclatchey et al 1992, wagner et al 1997]...

Classifications:



Summaries for Hyperkalemic Periodic Paralysis

NIH Rare Diseases : 53 Hyperkalemic periodic paralysis is a genetic disease that causes episodes of extreme muscle weakness and an increase of the potassium levels in the blood. Muscle weakness during an attack usually affects the arms and legs and muscles of the eyes, throat, and trunk. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes usually begin before age 20, usually between infancy and age 10. Normally an episode lasts for 15 minutes to an hour, but in some people the episodes may last a few days to a week. Episodes tend to increase in frequency until about age 50, after which they may occur less frequently. Factors that can trigger attacks include rest after strenuous exercise, potassium-rich foods, stress, fatigue, and exposure to cold. Depolarizing anesthetics should also be avoided. Muscle strength usually returns to normal between episodes, although many people continue to experience mild stiffness, particularly in muscles of the face and hands. Studies suggest more than 80% of people with hyperkalemic periodic paralysis over age 40 have permanent muscle weakness, most often affecting the leg muscles. About one third may develop a chronic progressive myopathy.  Hyperkalemic periodic paralysis is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant manner. Diagnosis is based on clinical symptoms including the increase of blood potassium level during an episode, but normal levels of blood potassium level in between episodes. Genetic testing can confirm the diagnosis. Treatment is focused on avoiding triggers and decreasing the severity of an episode. At the first sign of muscle weakness, episodes in many people may be prevented or stopped by mild exercise and/or eating carbohydrates, inhalation of salbutamol, or intravenous calcium gluconate.

MalaCards based summary : Hyperkalemic Periodic Paralysis, also known as familial hyperkalemic periodic paralysis, is related to malignant hyperthermia and myotonia, 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 Dichlorphenamide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and skeletal muscle, and related phenotypes are myotonia and episodic flaccid weakness

OMIM : 57 The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000). Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP. (170500)

UniProtKB/Swiss-Prot : 75 Periodic paralysis hyperkalemic: An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients. Periodic paralysis normokalemic: A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness.

Genetics Home Reference : 25 Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands.

Wikipedia : 76 Hyperkalemic periodic paralysis (HYPP, HyperKPP) is a genetic disorder. It occurs in humans, horses... more...

GeneReviews: NBK1496

Related Diseases for Hyperkalemic Periodic Paralysis

Graphical network of the top 20 diseases related to Hyperkalemic Periodic Paralysis:



Diseases related to Hyperkalemic Periodic Paralysis

Symptoms & Phenotypes for Hyperkalemic Periodic Paralysis

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
flaccid weakness or paralysis, episodic attacks
muscle weakness is predominantly of extremities and tongue
attacks precipitated by rest after exercise
attacks precipitated by cold temperature
attacks precipitated by potassium
more
Laboratory Abnormalities:
hyperkalemia during attacks


Clinical features from OMIM:

170500

Human phenotypes related to Hyperkalemic Periodic Paralysis:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 myotonia 32 frequent (33%) HP:0002486
2 episodic flaccid weakness 32 hallmark (90%) HP:0003752
3 periodic hyperkalemic paralysis 32 hallmark (90%) HP:0007215
4 ophthalmoparesis 32 occasional (7.5%) HP:0000597
5 hypertonia 32 occasional (7.5%) HP:0001276
6 gait disturbance 32 frequent (33%) HP:0001288
7 reduced tendon reflexes 32 hallmark (90%) HP:0001315
8 flexion contracture 32 occasional (7.5%) HP:0001371
9 congestive heart failure 32 occasional (7.5%) HP:0001635
10 malignant hyperthermia 32 occasional (7.5%) HP:0002047
11 respiratory insufficiency 32 occasional (7.5%) HP:0002093
12 hyperkalemia 32 frequent (33%) HP:0002153
13 fasciculations 32 frequent (33%) HP:0002380
14 bowel incontinence 32 occasional (7.5%) HP:0002607
15 hypokalemia 32 occasional (7.5%) HP:0002900
16 hyponatremia 32 occasional (7.5%) HP:0002902
17 myopathy 32 occasional (7.5%) HP:0003198
18 skeletal muscle atrophy 32 occasional (7.5%) HP:0003202
19 elevated serum creatine phosphokinase 32 hallmark (90%) HP:0003236
20 myalgia 32 frequent (33%) HP:0003326
21 paresthesia 32 occasional (7.5%) HP:0003401
22 emg abnormality 32 hallmark (90%) HP:0003457
23 skeletal muscle hypertrophy 32 occasional (7.5%) HP:0003712
24 feeding difficulties in infancy 32 occasional (7.5%) HP:0008872
25 arrhythmia 32 occasional (7.5%) HP:0011675
26 cerebral palsy 32 hallmark (90%) HP:0100021
27 chest pain 32 occasional (7.5%) HP:0100749

UMLS symptoms related to Hyperkalemic Periodic Paralysis:


stridor, muscular stiffness, myalgia

MGI Mouse Phenotypes related to Hyperkalemic Periodic Paralysis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.72 CACNA1S CLCN1 KCNJ2 PTPRB SCN4A
2 homeostasis/metabolism MP:0005376 9.63 CACNA1S CLCN1 KCNE3 KCNJ2 PTPRB SCN4A
3 hearing/vestibular/ear MP:0005377 9.43 CLCN1 KCNE3 SCN4A
4 muscle MP:0005369 9.35 CACNA1S CLCN1 KCNJ2 PTPRB SCN4A
5 respiratory system MP:0005388 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

Drugs & Therapeutics for Hyperkalemic Periodic Paralysis

Drugs for Hyperkalemic Periodic Paralysis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3 Hops Approved, Nutraceutical Phase 3
4 Carbonic Anhydrase Inhibitors Phase 3
5 Anticonvulsants Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Diuretics, Potassium Sparing Phase 3
9 Excitatory Amino Acid Antagonists Phase 3
10 Excitatory Amino Acids Phase 3
11 Neurotransmitter Agents Phase 3
12 Sodium Channel Blockers Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hyper- and Hypokalemic Periodic Paralysis Study Completed NCT00494507 Phase 3 Dichlorphenamide (double-blind);Placebo (double-blind);Dichlorphenamide (open-label)
2 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide
3 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo

Search NIH Clinical Center for Hyperkalemic Periodic Paralysis

Cochrane evidence based reviews: paralysis, hyperkalemic periodic

Genetic Tests for Hyperkalemic Periodic Paralysis

Genetic tests related to Hyperkalemic Periodic Paralysis:

# Genetic test Affiliating Genes
1 Familial Hyperkalemic Periodic Paralysis 29

Anatomical Context for Hyperkalemic Periodic Paralysis

MalaCards organs/tissues related to Hyperkalemic Periodic Paralysis:

41
Testes, Eye, Skeletal Muscle, Tongue, Heart

Publications for Hyperkalemic Periodic Paralysis

Articles related to Hyperkalemic Periodic Paralysis:

(show top 50) (show all 119)
# Title Authors Year
1
Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C&amp;gt;T in the<i>SCN4A</i>gene. ( 28298850 )
2017
2
Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement. ( 26256659 )
2015
3
Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysis. ( 26702073 )
2015
4
Understanding the physiology of the asymptomatic diaphragm of the M1592V hyperkalemic periodic paralysis mouse. ( 26621775 )
2015
5
ANESTHESIA CHARACTERISTICS OF A PATIENT WITH HYPERKALEMIC PERIODIC PARALYSIS--CASE REPORT. ( 26152064 )
2014
6
Post-exercise increment in compound muscle action potential amplitude in hyperkalemic periodic paralysis. ( 24583090 )
2014
7
Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content. ( 24714718 )
2014
8
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals. ( 23884711 )
2013
9
Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis. ( 23473731 )
2013
10
Management of a patient with hyperkalemic periodic paralysis requiring coronary artery bypass grafts. ( 23041689 )
2012
11
Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results. ( 22509051 )
2012
12
Lessons learned from muscle fatigue: implications for treatment of patients with hyperkalemic periodic paralysis. ( 23092434 )
2012
13
Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis. ( 21708955 )
2011
14
Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A. ( 22253644 )
2011
15
Combined spinal/general anesthesia with postoperative femoral nerve block for total knee replacement in a patient with familial hyperkalemic periodic paralysis: a case report. ( 20572404 )
2010
16
Disappearance of episodic weakness during pregnancy in hyperkalemic periodic paralysis from the SCNA4 mutation T704M. ( 19741438 )
2009
17
An unusual pathologic feature and phenotype associated with familial hyperkalemic periodic paralysis. ( 18410368 )
2008
18
[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene]. ( 18726720 )
2008
19
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. ( 17395131 )
2007
20
Anesthesia case of the month. Hyperkalemic periodic paralysis. ( 17199489 )
2007
21
Epidural anesthesia in a patient with hyperkalemic periodic paralysis undergoing orthopedic surgery. ( 14709476 )
2004
22
Spinal anesthesia for a patient with familial hyperkalemic periodic paralysis. ( 12131128 )
2002
23
Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation. ( 11757950 )
2001
24
Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis. ( 10677861 )
2000
25
A global defect in scaling relationship between electrical activity and availability of muscle sodium channels in hyperkalemic periodic paralysis. ( 10370108 )
1999
26
Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na+ channel. ( 9886942 )
1999
27
Hyperkalemic periodic paralysis associated with multiple sleep onset REM periods. ( 10617173 )
1999
28
Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. ( 9508059 )
1998
29
Effect of high-intensity exercise on arterial blood gas tensions and upper airway and cardiac function in clinically normal quarter horses and horses heterozygous and homozygous for hyperkalemic periodic paralysis. ( 9582966 )
1998
30
Phenytoin alters transcript levels of hormone-sensitive lipase in muscle from horses with hyperkalemic periodic paralysis. ( 9784238 )
1998
31
Effects of local anesthetics on Na+ channels containing the equine hyperkalemic periodic paralysis mutation. ( 9688593 )
1998
32
Fibromyalgia in hyperkalemic periodic paralysis. ( 9808405 )
1998
33
[Familial hyperkalemic periodic paralysis: a brief review of the adult human skeletal muscle sodium channel and the application of LA-PCR to the SCN4A gene analysis]. ( 9436446 )
1997
34
Hyperkalemic periodic paralysis. ( 9106348 )
1997
35
Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype. ( 9131651 )
1997
36
A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism. ( 9266738 )
1997
37
Laryngospasm, dysphagia, and emaciation associated with hyperkalemic periodic paralysis in a horse. ( 8926191 )
1996
38
Hyperkalemic periodic paralysis episode during halothane anesthesia in a horse. ( 8675475 )
1996
39
Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene. ( 8985730 )
1996
40
Evidence for a single pedigree source of the hyperkalemic periodic paralysis susceptibility gene in quarter horses. ( 8856926 )
1996
41
Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis. ( 8756883 )
1996
42
Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation? ( 7695243 )
1995
43
A clinical and neuroelectrophysiological study of hyperkalemic periodic paralysis. ( 7647318 )
1995
44
Sodium channel inactivation is impaired in equine hyperkalemic periodic paralysis. ( 7623088 )
1995
45
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. ( 8058156 )
1994
46
Selection of quarter horses affected with hyperkalemic periodic paralysis by show judges. ( 8188514 )
1994
47
Equine hyperkalemic periodic paralysis: review and implications. ( 8050073 )
1994
48
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. ( 8044656 )
1994
49
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. ( 8388676 )
1993
50
Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. ( 8386527 )
1993

Variations for Hyperkalemic Periodic Paralysis

UniProtKB/Swiss-Prot genetic disease variations for Hyperkalemic Periodic Paralysis:

75
# Symbol AA change Variation ID SNP ID
1 SCN4A p.Thr704Met VAR_001562 rs80338957
2 SCN4A p.Ala1156Thr VAR_001565 rs80338958
3 SCN4A p.Leu1433Arg VAR_001571 rs121908550
4 SCN4A p.Met1592Val VAR_001575 rs80338962
5 SCN4A p.Arg675Gly VAR_037104 rs121908556
6 SCN4A p.Arg675Gln VAR_037105 rs121908557
7 SCN4A p.Arg675Trp VAR_037106 rs121908556
8 SCN4A p.Arg1129Gln VAR_064987 rs527236149

ClinVar genetic disease variations for Hyperkalemic Periodic Paralysis:

6
(show top 50) (show all 495)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.2111C> T (p.Thr704Met) single nucleotide variant Pathogenic rs80338957 GRCh37 Chromosome 17, 62034787: 62034787
2 SCN4A NM_000334.4(SCN4A): c.2111C> T (p.Thr704Met) single nucleotide variant Pathogenic rs80338957 GRCh38 Chromosome 17, 63957427: 63957427
3 SCN4A NM_000334.4(SCN4A): c.4774A> G (p.Met1592Val) single nucleotide variant Pathogenic rs80338962 GRCh37 Chromosome 17, 62018868: 62018868
4 SCN4A NM_000334.4(SCN4A): c.4774A> G (p.Met1592Val) single nucleotide variant Pathogenic rs80338962 GRCh38 Chromosome 17, 63941508: 63941508
5 SCN4A NM_000334.4(SCN4A): c.4342C> T (p.Arg1448Cys) single nucleotide variant Pathogenic rs121908544 GRCh37 Chromosome 17, 62019300: 62019300
6 SCN4A NM_000334.4(SCN4A): c.4342C> T (p.Arg1448Cys) single nucleotide variant Pathogenic rs121908544 GRCh38 Chromosome 17, 63941940: 63941940
7 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh37 Chromosome 17, 62019299: 62019299
8 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh38 Chromosome 17, 63941939: 63941939
9 SCN4A NM_000334.4(SCN4A): c.3466G> A (p.Ala1156Thr) single nucleotide variant Pathogenic rs80338958 GRCh37 Chromosome 17, 62022974: 62022974
10 SCN4A NM_000334.4(SCN4A): c.3466G> A (p.Ala1156Thr) single nucleotide variant Pathogenic rs80338958 GRCh38 Chromosome 17, 63945614: 63945614
11 SCN4A NM_000334.4(SCN4A): c.2023C> T (p.Arg675Trp) single nucleotide variant Pathogenic rs121908556 GRCh37 Chromosome 17, 62034875: 62034875
12 SCN4A NM_000334.4(SCN4A): c.2023C> T (p.Arg675Trp) single nucleotide variant Pathogenic rs121908556 GRCh38 Chromosome 17, 63957515: 63957515
13 SCN4A NM_000334.4(SCN4A): c.3938C> T (p.Thr1313Met) single nucleotide variant Pathogenic rs121908547 GRCh37 Chromosome 17, 62021185: 62021185
14 SCN4A NM_000334.4(SCN4A): c.3938C> T (p.Thr1313Met) single nucleotide variant Pathogenic rs121908547 GRCh38 Chromosome 17, 63943825: 63943825
15 SCN4A NM_000334.4(SCN4A): c.3917G> C (p.Gly1306Ala) single nucleotide variant Pathogenic rs80338792 GRCh37 Chromosome 17, 62021206: 62021206
16 SCN4A NM_000334.4(SCN4A): c.3917G> C (p.Gly1306Ala) single nucleotide variant Pathogenic rs80338792 GRCh38 Chromosome 17, 63943846: 63943846
17 SCN4A NM_000334.4(SCN4A): c.3877G> A (p.Val1293Ile) single nucleotide variant Pathogenic rs121908551 GRCh37 Chromosome 17, 62022068: 62022068
18 SCN4A NM_000334.4(SCN4A): c.3877G> A (p.Val1293Ile) single nucleotide variant Pathogenic rs121908551 GRCh38 Chromosome 17, 63944708: 63944708
19 SCN4A NM_000334.4(SCN4A): c.1333G> A (p.Val445Met) single nucleotide variant Pathogenic rs121908552 GRCh37 Chromosome 17, 62041947: 62041947
20 SCN4A NM_000334.4(SCN4A): c.1333G> A (p.Val445Met) single nucleotide variant Pathogenic rs121908552 GRCh38 Chromosome 17, 63964587: 63964587
21 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh37 Chromosome 17, 62036638: 62036638
22 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh38 Chromosome 17, 63959278: 63959278
23 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh37 Chromosome 17, 62036629: 62036629
24 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh38 Chromosome 17, 63959269: 63959269
25 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
26 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
27 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
28 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
29 SCN4A NM_000334.4(SCN4A): c.2023C> G (p.Arg675Gly) single nucleotide variant Pathogenic rs121908556 GRCh37 Chromosome 17, 62034875: 62034875
30 SCN4A NM_000334.4(SCN4A): c.2023C> G (p.Arg675Gly) single nucleotide variant Pathogenic rs121908556 GRCh38 Chromosome 17, 63957515: 63957515
31 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh37 Chromosome 17, 62034874: 62034874
32 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh38 Chromosome 17, 63957514: 63957514
33 SCN4A NM_000334.4(SCN4A): c.3917G> A (p.Gly1306Glu) single nucleotide variant Pathogenic rs80338792 GRCh37 Chromosome 17, 62021206: 62021206
34 SCN4A NM_000334.4(SCN4A): c.3917G> A (p.Gly1306Glu) single nucleotide variant Pathogenic rs80338792 GRCh38 Chromosome 17, 63943846: 63943846
35 SCN4A NM_000334.4(SCN4A): c.2078T> C (p.Ile693Thr) single nucleotide variant Pathogenic rs80338956 GRCh37 Chromosome 17, 62034820: 62034820
36 SCN4A NM_000334.4(SCN4A): c.2078T> C (p.Ile693Thr) single nucleotide variant Pathogenic rs80338956 GRCh38 Chromosome 17, 63957460: 63957460
37 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
38 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
39 SCN4A NM_000334.4(SCN4A): c.2065C> A (p.Leu689Ile) single nucleotide variant Pathogenic rs80338955 GRCh37 Chromosome 17, 62034833: 62034833
40 SCN4A NM_000334.4(SCN4A): c.2065C> A (p.Leu689Ile) single nucleotide variant Pathogenic rs80338955 GRCh38 Chromosome 17, 63957473: 63957473
41 SCN4A NM_000334.4(SCN4A): c.4078A> G (p.Met1360Val) single nucleotide variant Likely pathogenic rs80338959 GRCh37 Chromosome 17, 62020396: 62020396
42 SCN4A NM_000334.4(SCN4A): c.4078A> G (p.Met1360Val) single nucleotide variant Likely pathogenic rs80338959 GRCh38 Chromosome 17, 63943036: 63943036
43 SCN4A NM_000334.4(SCN4A): c.4108A> G (p.Met1370Val) single nucleotide variant Pathogenic rs80338960 GRCh37 Chromosome 17, 62020366: 62020366
44 SCN4A NM_000334.4(SCN4A): c.4108A> G (p.Met1370Val) single nucleotide variant Pathogenic rs80338960 GRCh38 Chromosome 17, 63943006: 63943006
45 SCN4A NM_000334.4(SCN4A): c.4483A> T (p.Ile1495Phe) single nucleotide variant Pathogenic rs80338961 GRCh37 Chromosome 17, 62019159: 62019159
46 SCN4A NM_000334.4(SCN4A): c.4483A> T (p.Ile1495Phe) single nucleotide variant Pathogenic rs80338961 GRCh38 Chromosome 17, 63941799: 63941799
47 SCN4A NM_000334.4(SCN4A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs527236148 GRCh37 Chromosome 17, 62048561: 62048561
48 SCN4A NM_000334.4(SCN4A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs527236148 GRCh38 Chromosome 17, 63971201: 63971201
49 SCN4A NM_000334.4(SCN4A): c.3318+12C> A single nucleotide variant Benign rs13341114 GRCh37 Chromosome 17, 62025238: 62025238
50 SCN4A NM_000334.4(SCN4A): c.3318+12C> A single nucleotide variant Benign rs13341114 GRCh38 Chromosome 17, 63947878: 63947878

Expression for Hyperkalemic Periodic Paralysis

Search GEO for disease gene expression data for Hyperkalemic Periodic Paralysis.

Pathways for Hyperkalemic Periodic Paralysis

GO Terms for Hyperkalemic Periodic Paralysis

Cellular components related to Hyperkalemic Periodic Paralysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.63 CACNA1S CLCN1 KCNE3 KCNJ2 PTPRB SCN4A
2 integral component of plasma membrane GO:0005887 9.56 CLCN1 KCNJ2 PTPRB SCN4A
3 plasma membrane GO:0005886 9.43 CACNA1S CLCN1 KCNE3 KCNJ2 PTPRB SCN4A
4 sarcolemma GO:0042383 9.37 CACNA1S CLCN1
5 voltage-gated potassium channel complex GO:0008076 9.32 KCNE3 KCNJ2
6 T-tubule GO:0030315 8.62 CACNA1S KCNJ2

Biological processes related to Hyperkalemic Periodic Paralysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.61 CACNA1S CLCN1 SCN4A
2 potassium ion transport GO:0006813 9.48 KCNE3 KCNJ2
3 potassium ion transmembrane transport GO:0071805 9.46 KCNE3 KCNJ2
4 cardiac conduction GO:0061337 9.4 CACNA1S KCNJ2
5 regulation of heart rate by cardiac conduction GO:0086091 9.37 KCNE3 KCNJ2
6 ion transport GO:0006811 9.35 CACNA1S CLCN1 KCNE3 KCNJ2 SCN4A
7 muscle contraction GO:0006936 9.33 CACNA1S CLCN1 SCN4A
8 membrane depolarization during action potential GO:0086010 9.32 CACNA1S SCN4A
9 regulation of membrane repolarization GO:0060306 9.26 KCNE3 KCNJ2
10 regulation of ion transmembrane transport GO:0034765 9.02 CACNA1S CLCN1 KCNE3 KCNJ2 SCN4A

Molecular functions related to Hyperkalemic Periodic Paralysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 8.96 CACNA1S SCN4A
2 voltage-gated ion channel activity GO:0005244 8.8 CACNA1S KCNJ2 SCN4A

Sources for Hyperkalemic Periodic Paralysis

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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