HOKPP1
MCID: HYP370
MIFTS: 61

Hypokalemic Periodic Paralysis, Type 1 (HOKPP1)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypokalemic Periodic Paralysis, Type 1

MalaCards integrated aliases for Hypokalemic Periodic Paralysis, Type 1:

Name: Hypokalemic Periodic Paralysis, Type 1 57 13
Hypokalemic Periodic Paralysis 57 12 76 24 53 25 59 37 29 55 6 44 15 73
Hokpp 57 24 53 25 75
Hypopp 24 53 25 75
Westphall Disease 25 59 75
Familial Hypokalemic Periodic Paralysis 12 25
Hypokalemic Periodic Paralysis Type 1 76 73
Hypokalemic Periodic Paralysis 1 29 6
Familial Periodic Paralysis 12 73
Westphal Disease 12 29
Hokpp1 57 75
Paralysis, Hypokalemic, Periodic, Type 1 40
Hypokalemic Familial Periodic Paralysis 12
Primary Hypokalemic Periodic Paralysis 25
Hypokalemic Periodic Paralysis; Hokpp 57
Periodic Paralysis Hypokalemic 1 75
Paralysis, Hypokalemic, Periodic 40
Periodic Hypokalemic Paralysis 12
Periodic Paralysis I 12
Hypokpp 25

Characteristics:

Orphanet epidemiological data:

59
hypokalemic periodic paralysis
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
allelic disorder to hyperkalemic periodic paralysis (hypp, )
onset usually in second decade (may occur earlier)
one-third of cases are sporadic
reduced penetrance in females


HPO:

32
hypokalemic periodic paralysis, type 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance In general, the penetrance of this disorder is high (≥90%) in males and reduced in females. an exception to this occurs with pathogenic variants with an arginine-to-glycine substitution for which high penetrance in males and females is noted [kim et al 2005, wang et al 2005, winczewska-wiktor et al 2007]...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 170400
Disease Ontology 12 DOID:14452
ICD10 33 G72.3
MeSH 44 D020514
NCIt 50 C84775
SNOMED-CT 68 82732003
Orphanet 59 ORPHA681
MESH via Orphanet 45 D020514
UMLS via Orphanet 74 C0238358 C0238357
ICD10 via Orphanet 34 G72.3
KEGG 37 H00746

Summaries for Hypokalemic Periodic Paralysis, Type 1

NIH Rare Diseases : 53 Hypokalemic periodic paralysis (HOKPP) is characterized by 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 people with HOKPP. 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 go away on their own, while treatment for moderate or severe attacks may involve taking potassium salts or intravenous (IV) potassium.

MalaCards based summary : 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 weakness, myalgia and sciatica. 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 MAPK signaling pathway and Calcium signaling pathway. The drugs Dichlorphenamide and Hops have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, smooth muscle and thyroid, and related phenotypes are emg abnormality and periodic hypokalemic paresis

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 : 57 There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, 188580), a disorder with a high frequency in individuals of Asian descent (Kung, 2006). (170400)

UniProtKB/Swiss-Prot : 75 Periodic paralysis hypokalemic 1: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.

Wikipedia : 76 Hypokalemic periodic paralysis (hypoKPP) is a rare, autosomal dominant channelopathy characterized by... more...

GeneReviews: NBK1338

Related Diseases for Hypokalemic Periodic Paralysis, Type 1

Diseases in the Hypokalemic Periodic Paralysis, Type 1 family:

Hypokalemic Periodic Paralysis, Type 2

Diseases related to Hypokalemic Periodic Paralysis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 hypokalemic periodic paralysis, type 2 34.3 SCN4A QDPR
2 thyrotoxic periodic paralysis 33.4 KCNJ2 CACNA1S
3 periodic paralyses 31.8 SCN4A KCNJ2 KCNE3 CACNA1S
4 hyperkalemic periodic paralysis 31.7 SCN4A KCNJ2 KCNE3 CLCN1 CACNA1S
5 familial periodic paralysis 31.0 SCN4A RYR1 QDPR KCNJ2 KCNE3 CLCN1
6 malignant hyperthermia 30.4 SCN4A RYR1 QDPR CACNA1S
7 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 30.2 SCN4A RYR1
8 graves disease 1 30.2 SCN4A INS
9 andersen cardiodysrhythmic periodic paralysis 30.2 SCN4A KCNJ2 CACNA1S
10 cardiac arrhythmia 30.1 KCNJ2 CACNA1C
11 myotonia 29.9 SCN4A CLCN1
12 thyrotoxic periodic paralysis 2 12.2
13 thyrotoxic periodic paralysis 1 11.4
14 familial periodic paralyses 11.2
15 renal tubular acidosis 10.5
16 polyglucosan body myopathy 1 with or without immunodeficiency 10.4
17 graves' disease 10.4
18 myopathy 10.4
19 hypokalemia 10.4
20 sjogren syndrome 10.3
21 renal tubular acidosis, distal 10.3
22 multiple sclerosis 10.3
23 myasthenia gravis 10.3
24 hyperthyroidism 10.3
25 myasthenia gravis congenital 10.3
26 malignant hyperthermia of anesthesia 10.2 RYR1 CACNA1S
27 hypophosphatemia 10.2
28 epilepsy 10.2
29 adenoma 10.2
30 central core disease of muscle 10.2 RYR1 CACNA1S
31 myotonic dystrophy 2 10.1 SCN4A CLCN1
32 myotonic disease 10.1 SCN4A CLCN1
33 brody myopathy 10.1 RYR1 CLCN1
34 malignant hyperthermia susceptibility 10.1 SCN4A RYR1 CACNA1S
35 myopathy, congenital, bailey-bloch 10.1 RYR1 QDPR CACNA1S
36 central core myopathy 10.1 RYR1 QDPR CACNA1S
37 muscle disorders 10.1 RYR1 CLCN1
38 myotonia congenita 10.1 SCN4A CLCN1 CACNA1S
39 long qt syndrome 6 10.1 KCNJ2 CACNA1C
40 long qt syndrome 1 10.1 KCNJ2 KCNE3 CACNA1C
41 hyperglobulinemic purpura 10.0 BRD4 ATP6V0A4
42 diabetes insipidus, nephrogenic, autosomal 10.0
43 renal tubular acidosis, proximal 10.0
44 wolff-parkinson-white syndrome 10.0
45 epilepsy, idiopathic generalized 10.0
46 ventricular tachycardia, catecholaminergic polymorphic, 2 10.0
47 acute promyelocytic leukemia 10.0
48 ventricular tachycardia, catecholaminergic polymorphic, 4 10.0
49 amelogenesis imperfecta 10.0
50 bartter disease 10.0

Graphical network of the top 20 diseases related to Hypokalemic Periodic Paralysis, Type 1:



Diseases related to Hypokalemic Periodic Paralysis, Type 1

Symptoms & Phenotypes for Hypokalemic Periodic Paralysis, Type 1

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
flaccid weakness or paralysis, episodic attacks
attacks last 4 to 24 hours
attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
attacks may present during or after sleep
attacks relieved by potassium administration
more
Laboratory Abnormalities:
hypokalemia occurs during paralytic attacks


Clinical features from OMIM:

170400

Human phenotypes related to Hypokalemic Periodic Paralysis, Type 1:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
2 periodic hypokalemic paresis 59 32 obligate (100%) Obligate (100%) HP:0008153
3 fatigable weakness of respiratory muscles 59 32 very rare (1%) Very rare (<4-1%) HP:0030196
4 adrenocortical adenoma 59 32 very rare (1%) Very rare (<4-1%) HP:0008256
5 episodic hypokalemia 59 32 obligate (100%) Obligate (100%) HP:0012726
6 episodic flaccid weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003752
7 mildly elevated creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0008180
8 increased intramyocellular lipid droplets 59 32 hallmark (90%) Very frequent (99-80%) HP:0012240
9 exercise-induced muscle fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0009020
10 postprandial hyperglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0011998
11 late-onset proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003694
12 respiratory paralysis 59 32 very rare (1%) Very rare (<4-1%) HP:0002203
13 hypokalemia 32 HP:0002900
14 myopathy 32 occasional (7.5%) HP:0003198
15 myotonia 59 Excluded (0%)
16 paralysis 59 Very frequent (99-80%)
17 abnormality of muscle fibers 59 Very frequent (99-80%)
18 impaired myocardial contractility 59 Excluded (0%)
19 periodic hyperkalemic paralysis 32 HP:0007215

UMLS symptoms related to Hypokalemic Periodic Paralysis, Type 1:


muscle weakness, myalgia, sciatica, muscle rigidity, muscle cramp, muscle spasticity

GenomeRNAi Phenotypes related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.32 QDPR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.32 QDPR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.32 QDPR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.32 KCNE4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.32 QDPR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.32 CLCN1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.32 CLCN1 KCNE4 QDPR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.32 CLCN1

MGI Mouse Phenotypes related to Hypokalemic Periodic Paralysis, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.96 ATP6V0A4 CACNA1C CACNA1S CLCN1 INS KCNE3
2 behavior/neurological MP:0005386 9.92 ATP6V0A4 CACNA1C CACNA1S CLCN1 INS KCNJ2
3 mortality/aging MP:0010768 9.81 ATP6V0A4 CACNA1C CACNA1S CLCN1 INS KCNJ2
4 muscle MP:0005369 9.5 CACNA1C CACNA1S CLCN1 INS KCNJ2 RYR1
5 skeleton MP:0005390 9.17 ATP6V0A4 CACNA1S CLCN1 INS KCNJ2 QDPR

Drugs & Therapeutics for Hypokalemic Periodic Paralysis, Type 1

Drugs for Hypokalemic Periodic Paralysis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2 Hops Approved Phase 3
3 Carbonic Anhydrase Inhibitors Phase 3
4
Bumetanide Approved Phase 2 28395-03-1 2471
5 diuretics Phase 2
6 Sodium Potassium Chloride Symporter Inhibitors Phase 2
7 Natriuretic Agents Phase 2

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 Bumetanide in Hypokalaemic Periodic Paralysis Terminated NCT02582476 Phase 2 Bumetanide;Placebo

Search NIH Clinical Center for Hypokalemic Periodic Paralysis, Type 1

Cochrane evidence based reviews: hypokalemic periodic paralysis

Genetic Tests for Hypokalemic Periodic Paralysis, Type 1

Genetic tests related to Hypokalemic Periodic Paralysis, Type 1:

# Genetic test Affiliating Genes
1 Hypokalemic Periodic Paralysis 29
2 Hypokalemic Periodic Paralysis 1 29 CACNA1S SCN4A
3 Westphal Disease 29

Anatomical Context for Hypokalemic Periodic Paralysis, Type 1

MalaCards organs/tissues related to Hypokalemic Periodic Paralysis, Type 1:

41
Skeletal Muscle, Smooth Muscle, Thyroid, Testes, Pituitary

Publications for Hypokalemic Periodic Paralysis, Type 1

Articles related to Hypokalemic Periodic Paralysis, Type 1:

(show top 50) (show all 307)
# Title Authors Year
1
Proximal Muscle Weakness With Overlying Hypokalemic Periodic Paralysis in SjAPgren Syndrome: Report of 6 Cases. ( 29667944 )
2018
2
Recognizing thyrotoxic hypokalemic periodic paralysis. ( 29278563 )
2018
3
Changing Management Guidelines in Thyrotoxic Hypokalemic Periodic Paralysis. ( 29871829 )
2018
4
Thyrotoxic Hypokalemic Periodic Paralysis. ( 29910553 )
2018
5
Phenotypical Variation with Same Genetic Mutation in Familial Hypokalemic Periodic Paralysis. ( 30090141 )
2018
6
Thyrotoxic hypokalemic periodic paralysis. ( 30169664 )
2018
7
Secondary hypokalemic periodic paralysis as a rare clinical presentation of Conn syndrome. ( 30262175 )
2018
8
Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men. ( 30305000 )
2018
9
Clinical Profile of Primary Sjogrens Syndrome with Hypokalemic Periodic Paralysis. ( 30477063 )
2018
10
[Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis]. ( 29419865 )
2018
11
Rhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis. ( 28255549 )
2017
12
The Case | An unusual case of recurrent hypokalemic periodic paralysis. ( 28501311 )
2017
13
Phospholemman, a major regulator of skeletal muscle Na+/K+-ATPase, is not mutated in probands with hypokalemic periodic paralysis. ( 28912873 )
2017
14
Na leak with gating pore properties in hypokalemic periodic paralysis V876E mutant muscle Ca channel. ( 29114033 )
2017
15
An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis. ( 29138267 )
2017
16
A novel Kir2.6 mutation associated with hypokalemic periodic paralysis. ( 27178871 )
2016
17
Tenofovir-Induced Fanconi Syndrome Presenting as Hypokalemic Periodic Paralysis. ( 27574926 )
2016
18
Myasthenia gravis accompanied by Graves' disease, thyrotoxic hypokalemic periodic paralysis and thymic hyperplasia. ( 27381127 )
2016
19
Hypokalemic Periodic Paralysis Associated with Glue-Sniffing. ( 26758874 )
2016
20
Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis. ( 26935888 )
2016
21
Thyrotoxic hypokalemic periodic paralysis. ( 27318366 )
2016
22
Thyrotoxic hypokalemic periodic paralysis in a Turkish patient presenting with a U wave on ECG. ( 27394710 )
2016
23
Hyperthyroid hypokalemic periodic paralysis. ( 27648066 )
2016
24
Gitelman's syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis. ( 27752015 )
2016
25
The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis. ( 26433613 )
2015
26
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent. ( 25893123 )
2015
27
Thyrotoxic hypokalemic periodic paralysis in an African male: a case report. ( 25767707 )
2015
28
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. ( 26252573 )
2015
29
Recurrent Hypokalemic Periodic Paralysis Unmasks Sjogren Syndrome without Sicca Symptoms. ( 25933458 )
2015
30
Hypokalemic periodic paralysis: an omega pore mutation affects inactivation. ( 26083144 )
2015
31
Episodic weakness and vacuolar myopathy in hypokalemic periodic paralysis. ( 26190219 )
2015
32
Weakness in the Emergency Department: Hypokalemic Periodic Paralysis Induced By Strenuous Physical Activity. ( 27336072 )
2015
33
The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis. ( 25379045 )
2014
34
Successful treatment of hypokalemic periodic paralysis with topiramate. ( 25065459 )
2014
35
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis. ( 25024265 )
2014
36
Possible brugada phenocopy induced by hypokalemia in a patient with congenital hypokalemic periodic paralysis. ( 24652091 )
2014
37
Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. ( 25153560 )
2014
38
Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause? ( 25088161 )
2014
39
Secondary Sjogren's syndrome presenting with hypokalemic periodic paralysis. ( 25988057 )
2014
40
Hypokalemic periodic paralysis induced by thymic hyperplasia and relieved by thymectomy. ( 24061198 )
2013
41
Acute hypokalemic periodic paralysis possibly precipitated by albuterol. ( 23988599 )
2013
42
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis. ( 23427324 )
2013
43
V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman. ( 23948435 )
2013
44
Hypokalemic periodic paralysis in Sjogren's syndrome secondary to distal renal tubular acidosis. ( 22212410 )
2013
45
Hypokalemic periodic paralysis and distal renal tubular acidosis associated with renal morphological changes. ( 23680609 )
2013
46
Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis. ( 23953801 )
2013
47
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. ( 23019082 )
2013
48
Unilateral gynecomastia and hypokalemic periodic paralysis as first manifestations of Graves' disease. ( 23276903 )
2013
49
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis. ( 23956568 )
2013
50
Hypokalemic periodic paralysis: two cases of profound weakness. ( 23816210 )
2013

Variations for Hypokalemic Periodic Paralysis, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Hypokalemic Periodic Paralysis, Type 1:

75
# Symbol AA change Variation ID SNP ID
1 CACNA1S p.Arg528His VAR_001499 rs80338777
2 CACNA1S p.Arg1239Gly VAR_001501 rs28930069
3 CACNA1S p.Arg1239His VAR_001502 rs28930068
4 CACNA1S p.Arg528Gly VAR_054953 rs80338778
5 CACNA1S p.Arg900Ser VAR_054954

ClinVar genetic disease variations for Hypokalemic Periodic Paralysis, Type 1:

6 (show top 50) (show all 919)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh37 Chromosome 17, 62036638: 62036638
2 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh38 Chromosome 17, 63959278: 63959278
3 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh37 Chromosome 17, 62036629: 62036629
4 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh38 Chromosome 17, 63959269: 63959269
5 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
6 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
7 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
8 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
9 CACNA1S NM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 GRCh37 Chromosome 1, 201022666: 201022666
10 CACNA1S NM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 GRCh38 Chromosome 1, 201053538: 201053538
11 CACNA1S NM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly) single nucleotide variant Pathogenic rs28930069 GRCh37 Chromosome 1, 201022667: 201022667
12 CACNA1S NM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly) single nucleotide variant Pathogenic rs28930069 GRCh38 Chromosome 1, 201053539: 201053539
13 CACNA1S NM_000069.2(CACNA1S): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 GRCh37 Chromosome 1, 201047043: 201047043
14 CACNA1S NM_000069.2(CACNA1S): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 GRCh38 Chromosome 1, 201077915: 201077915
15 CACNA1S NM_000069.2(CACNA1S): c.2691G> T (p.Arg897Ser) single nucleotide variant Uncertain significance rs80338779 GRCh37 Chromosome 1, 201035411: 201035411
16 CACNA1S NM_000069.2(CACNA1S): c.2691G> T (p.Arg897Ser) single nucleotide variant Uncertain significance rs80338779 GRCh38 Chromosome 1, 201066283: 201066283
17 CACNA1S NM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu) single nucleotide variant Pathogenic rs267606698 GRCh37 Chromosome 1, 201036045: 201036045
18 CACNA1S NM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu) single nucleotide variant Pathogenic rs267606698 GRCh38 Chromosome 1, 201066917: 201066917
19 CACNA1S NM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly) single nucleotide variant Pathogenic rs80338778 GRCh37 Chromosome 1, 201047044: 201047044
20 CACNA1S NM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly) single nucleotide variant Pathogenic rs80338778 GRCh38 Chromosome 1, 201077916: 201077916
21 CACNA1S NM_000069.2(CACNA1S): c.3256C> T (p.Arg1086Cys) single nucleotide variant Uncertain significance rs80338782 GRCh37 Chromosome 1, 201029944: 201029944
22 CACNA1S NM_000069.2(CACNA1S): c.3256C> T (p.Arg1086Cys) single nucleotide variant Uncertain significance rs80338782 GRCh38 Chromosome 1, 201060816: 201060816
23 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
24 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
25 SCN4A NM_000334.4(SCN4A): c.2341G> A (p.Val781Ile) single nucleotide variant Benign/Likely benign rs62070884 GRCh37 Chromosome 17, 62034557: 62034557
26 SCN4A NM_000334.4(SCN4A): c.2341G> A (p.Val781Ile) single nucleotide variant Benign/Likely benign rs62070884 GRCh38 Chromosome 17, 63957197: 63957197
27 SCN4A NM_000334.4(SCN4A): c.2717G> C (p.Ser906Thr) single nucleotide variant Benign/Likely benign rs41280102 GRCh37 Chromosome 17, 62028920: 62028920
28 SCN4A NM_000334.4(SCN4A): c.2717G> C (p.Ser906Thr) single nucleotide variant Benign/Likely benign rs41280102 GRCh38 Chromosome 17, 63951560: 63951560
29 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh37 Chromosome 17, 62024451: 62024451
30 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh38 Chromosome 17, 63947091: 63947091
31 SCN4A NM_000334.4(SCN4A): c.968C> T (p.Thr323Met) single nucleotide variant Benign/Likely benign rs80338952 GRCh37 Chromosome 17, 62045451: 62045451
32 SCN4A NM_000334.4(SCN4A): c.968C> T (p.Thr323Met) single nucleotide variant Benign/Likely benign rs80338952 GRCh38 Chromosome 17, 63968091: 63968091
33 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 GRCh37 Chromosome 1, 201030461: 201030461
34 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 GRCh38 Chromosome 1, 201061333: 201061333
35 CACNA1S NM_000069.2(CACNA1S): c.3189C> T (p.Phe1063=) single nucleotide variant Benign/Likely benign rs150020550 NCBI36 Chromosome 1, 199297084: 199297084
36 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh37 Chromosome 17, 62029006: 62029006
37 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh38 Chromosome 17, 63951646: 63951646
38 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh37 Chromosome 17, 62019103: 62019103
39 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh38 Chromosome 17, 63941743: 63941743
40 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh37 Chromosome 17, 62018773: 62018773
41 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh38 Chromosome 17, 63941413: 63941413
42 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh37 Chromosome 17, 62043537: 62043537
43 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh38 Chromosome 17, 63966177: 63966177
44 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh37 Chromosome 17, 62041068: 62041068
45 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh38 Chromosome 17, 63963708: 63963708
46 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh37 Chromosome 17, 62034609: 62034609
47 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh38 Chromosome 17, 63957249: 63957249
48 SCN4A NM_000334.4(SCN4A): c.2919C> T (p.Pro973=) single nucleotide variant Benign rs73992419 GRCh37 Chromosome 17, 62026823: 62026823
49 SCN4A NM_000334.4(SCN4A): c.2919C> T (p.Pro973=) single nucleotide variant Benign rs73992419 GRCh38 Chromosome 17, 63949463: 63949463
50 SCN4A NM_000334.4(SCN4A): c.2989+5G> A single nucleotide variant Benign rs115695396 GRCh37 Chromosome 17, 62026748: 62026748

Expression for Hypokalemic Periodic Paralysis, Type 1

Search GEO for disease gene expression data for Hypokalemic Periodic Paralysis, Type 1.

Pathways for Hypokalemic Periodic Paralysis, Type 1

Pathways related to Hypokalemic Periodic Paralysis, Type 1 according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Calcium signaling pathway hsa04020
3 Cardiac muscle contraction hsa04260
4 Vascular smooth muscle contraction hsa04270
5 Cholinergic synapse hsa04725
6 GABAergic synapse hsa04727
7 GnRH signaling pathway hsa04912

Pathways related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 CACNA1C CACNA1S INS RYR1
2
Show member pathways
12.41 CACNA1C CACNA1S INS KCNJ2 RYR1
3
Show member pathways
12.29 CACNA1C CACNA1S KCNE3 KCNE4 KCNE5 KCNJ2
4 12.01 CACNA1C CACNA1S KCNE3 KCNE4 KCNJ2
5
Show member pathways
11.96 CACNA1C CACNA1S RYR1
6 11.81 CACNA1C CACNA1S RYR1
7
Show member pathways
11.72 CACNA1C CACNA1S CLCN1 INS
8 11.42 CACNA1C CACNA1S KCNJ2
9 11.3 CACNA1C KCNE3 KCNE4 KCNE5 KCNJ2
10 11.27 CACNA1C CACNA1S RYR1
11 11.09 CACNA1C CACNA1S
12
Show member pathways
10.98 CACNA1C CACNA1S KCNE3 KCNE4 KCNE5 SCN4A
13 10.54 CACNA1S RYR1

GO Terms for Hypokalemic Periodic Paralysis, Type 1

Cellular components related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel complex GO:0005891 9.43 CACNA1C CACNA1S
2 smooth endoplasmic reticulum GO:0005790 9.4 KCNJ2 RYR1
3 I band GO:0031674 9.37 CACNA1S RYR1
4 T-tubule GO:0030315 9.33 CACNA1S KCNJ2 RYR1
5 L-type voltage-gated calcium channel complex GO:1990454 9.26 CACNA1C CACNA1S
6 sarcolemma GO:0042383 9.26 CACNA1C CACNA1S CLCN1 RYR1
7 voltage-gated potassium channel complex GO:0008076 8.92 KCNE3 KCNE4 KCNE5 KCNJ2
8 plasma membrane GO:0005886 10.11 ATP6V0A4 CACNA1C CACNA1S CLCN1 KCNE3 KCNE5
9 integral component of membrane GO:0016021 10.02 ATP6V0A4 CACNA1C CACNA1S CLCN1 KCNE3 KCNE4

Biological processes related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 CACNA1C CACNA1S CLCN1 RYR1 SCN4A
2 ion transmembrane transport GO:0034220 9.84 ATP6V0A4 CACNA1C CLCN1 RYR1
3 potassium ion transmembrane transport GO:0071805 9.81 KCNE3 KCNE4 KCNE5 KCNJ2
4 muscle contraction GO:0006936 9.8 CACNA1S CLCN1 RYR1 SCN4A
5 calcium ion transport GO:0006816 9.79 CACNA1C CACNA1S RYR1
6 potassium ion transport GO:0006813 9.78 KCNE3 KCNE4 KCNJ2
7 calcium ion transmembrane transport GO:0070588 9.77 CACNA1C CACNA1S RYR1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.65 KCNE3 KCNE4 KCNE5
9 ventricular cardiac muscle cell action potential GO:0086005 9.63 KCNE3 KCNE4 KCNE5
10 calcium ion import GO:0070509 9.62 CACNA1C CACNA1S
11 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.61 KCNE3 KCNE4 KCNE5
12 regulation of potassium ion transmembrane transport GO:1901379 9.6 KCNE3 KCNE5
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 CACNA1C KCNJ2
14 positive regulation of potassium ion transmembrane transport GO:1901381 9.58 KCNE5 KCNJ2
15 potassium ion export across plasma membrane GO:0097623 9.58 KCNE3 KCNE4 KCNE5
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.57 CACNA1C KCNJ2
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.56 KCNE5 KCNJ2
18 membrane repolarization during action potential GO:0086011 9.56 KCNE3 KCNE4 KCNE5 KCNJ2
19 cellular response to caffeine GO:0071313 9.55 CACNA1S RYR1
20 regulation of heart rate by cardiac conduction GO:0086091 9.55 CACNA1C KCNE3 KCNE4 KCNE5 KCNJ2
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.54 KCNE3 KCNE4 KCNE5
22 regulation of membrane repolarization GO:0060306 9.5 KCNE3 KCNE5 KCNJ2
23 regulation of ion transmembrane transport GO:0034765 9.5 CACNA1C CACNA1S CLCN1 KCNE3 KCNE4 KCNJ2
24 ion transport GO:0006811 9.32 ATP6V0A4 CACNA1C CACNA1S CLCN1 KCNE3 KCNE4

Molecular functions related to Hypokalemic Periodic Paralysis, Type 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.69 CACNA1C CACNA1S RYR1
2 ion channel activity GO:0005216 9.67 CACNA1C RYR1 SCN4A
3 ion channel binding GO:0044325 9.65 KCNE3 KCNE4 KCNE5
4 calcium channel activity GO:0005262 9.63 CACNA1C CACNA1S RYR1
5 voltage-gated potassium channel activity GO:0005249 9.54 KCNE3 KCNE4 KCNE5
6 voltage-gated calcium channel activity GO:0005245 9.5 CACNA1C CACNA1S RYR1
7 high voltage-gated calcium channel activity GO:0008331 9.43 CACNA1C CACNA1S
8 potassium channel regulator activity GO:0015459 9.43 KCNE3 KCNE4 KCNE5
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.4 KCNE5 KCNJ2
10 delayed rectifier potassium channel activity GO:0005251 9.33 KCNE3 KCNE4 KCNE5
11 voltage-gated ion channel activity GO:0005244 9.26 CACNA1C CACNA1S KCNJ2 SCN4A
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 8.8 KCNE3 KCNE4 KCNE5

Sources for Hypokalemic Periodic Paralysis, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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