MCID: HYP370
MIFTS: 59

Hypokalemic Periodic Paralysis, Type 1

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

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
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 familial 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 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 periodic hypokalemic paresis and episodic hypokalemia

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.

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.

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 all 38)
# Related Disease Score Top Affiliating Genes
1 hypokalemic periodic paralysis, type 2 34.6 QDPR SCN4A
2 familial periodic paralysis 31.2 ATP6V0A4 CACNA1S CLCN1 KCNE3 KCNJ2 QDPR
3 hyperkalemic periodic paralysis 31.0 CACNA1S CLCN1 KCNE3 KCNJ2 SCN4A
4 thyrotoxic periodic paralysis 30.2 CACNA1S KCNJ2
5 westphal disease 12.1
6 familial periodic paralyses 11.5
7 thyrotoxic periodic paralysis 1 11.3
8 malignant hyperthermia of anesthesia 10.7 CACNA1S RYR1
9 graves disease 1 10.6 CACNA1S SCN4A
10 central core disease of muscle 10.5 CACNA1S RYR1
11 malignant hyperthermia susceptibility 10.4 CACNA1S RYR1 SCN4A
12 critical illness polyneuropathy 10.4 INS SCN4A
13 brody myopathy 10.4 CLCN1 RYR1
14 metal metabolism disorder 10.3 CACNA1S SCN4A
15 central core myopathy 10.3 CACNA1S QDPR RYR1
16 muscle disorders 10.3 CLCN1 RYR1
17 native american myopathy 10.3 CACNA1S QDPR RYR1
18 andersen cardiodysrhythmic periodic paralysis 10.3 CACNA1S KCNJ2 SCN4A
19 myotonia congenita 10.2 CACNA1S CLCN1 SCN4A
20 long qt syndrome 6 10.2 CACNA1C KCNJ2
21 myotonic disease 10.2 CLCN1 RYR1 SCN4A
22 long qt syndrome 1 10.1 CACNA1C KCNE3 KCNJ2
23 malignant hyperthermia 10.0 CACNA1S QDPR RYR1 SCN4A
24 periodic paralyses 10.0 CACNA1S KCNE3 KCNJ2 SCN4A
25 wolff-parkinson-white syndrome 9.9
26 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
27 renal tubular acidosis 9.9
28 hyperuricemia 9.9
29 myopathy 9.9
30 hypokalemia 9.9
31 familial atrial fibrillation 9.8 KCNE3 KCNE5 KCNJ2
32 cardiac arrhythmia 9.8 CACNA1C KCNJ2
33 hyperglobulinemic purpura 9.7 ATP6V0A4 BRD4
34 waardenburg's syndrome 9.7
35 brugada syndrome 9.7 CACNA1C KCNE3 KCNE5 SCN4A
36 long qt syndrome 9.5 CACNA1C KCNE3 KCNE5 KCNJ2
37 diabetes mellitus, ketosis-prone 9.5 BRD4 INS
38 primary hypomagnesemia 9.5 ATP6V0A4 BRD4

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

UMLS symptoms related to Hypokalemic Periodic Paralysis, Type 1:


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

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 CLCN1 INS KCNJ2 RYR1 SCN4A ATP6V0A4
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, Nutraceutical Phase 3
3 Carbonic Anhydrase Inhibitors Phase 3
4
Bumetanide Approved Phase 2 28395-03-1 2471
5 diuretics Phase 2
6 Natriuretic Agents Phase 2
7 Sodium Potassium Chloride Symporter Inhibitors 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

Anatomical Context for Hypokalemic Periodic Paralysis, Type 1

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

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

Publications for Hypokalemic Periodic Paralysis, Type 1

Articles related to Hypokalemic Periodic Paralysis, Type 1:

(show top 50) (show all 280)
# Title Authors Year
1
Proximal Muscle Weakness With Overlying Hypokalemic Periodic Paralysis in SjAPgren Syndrome: Report of 6 Cases. ( 29667944 )
2018
2
A novel Kir2.6 mutation associated with hypokalemic periodic paralysis. ( 27178871 )
2016
3
Tenofovir-Induced Fanconi Syndrome Presenting as Hypokalemic Periodic Paralysis. ( 27574926 )
2016
4
Myasthenia gravis accompanied by Graves' disease, thyrotoxic hypokalemic periodic paralysis and thymic hyperplasia. ( 27381127 )
2016
5
The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis. ( 26433613 )
2015
6
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent. ( 25893123 )
2015
7
Thyrotoxic hypokalemic periodic paralysis in an African male: a case report. ( 25767707 )
2015
8
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. ( 26252573 )
2015
9
The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis. ( 25379045 )
2014
10
Successful treatment of hypokalemic periodic paralysis with topiramate. ( 25065459 )
2014
11
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis. ( 25024265 )
2014
12
Possible brugada phenocopy induced by hypokalemia in a patient with congenital hypokalemic periodic paralysis. ( 24652091 )
2014
13
Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. ( 25153560 )
2014
14
Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause? ( 25088161 )
2014
15
Hypokalemic periodic paralysis induced by thymic hyperplasia and relieved by thymectomy. ( 24061198 )
2013
16
Acute hypokalemic periodic paralysis possibly precipitated by albuterol. ( 23988599 )
2013
17
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis. ( 23427324 )
2013
18
V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman. ( 23948435 )
2013
19
Hypokalemic periodic paralysis in Sjogren's syndrome secondary to distal renal tubular acidosis. ( 22212410 )
2013
20
Hypokalemic periodic paralysis and distal renal tubular acidosis associated with renal morphological changes. ( 23680609 )
2013
21
Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis. ( 23953801 )
2013
22
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. ( 23019082 )
2013
23
Unilateral gynecomastia and hypokalemic periodic paralysis as first manifestations of Graves' disease. ( 23276903 )
2013
24
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis. ( 23956568 )
2013
25
Hypokalemic periodic paralysis: two cases of profound weakness. ( 23816210 )
2013
26
Thyrotoxic hypokalemic periodic paralysis: two case reports and a brief review of literature. ( 24156178 )
2013
27
Hypokalemic periodic paralysis as first sign of thyrotoxicosis. ( 23599824 )
2013
28
Comparative study of thyrotoxic periodic paralysis from idiopathic hypokalemic periodic paralysis: An experience from India. ( 22919190 )
2012
29
Gastro-enteritis in hypokalemic periodic paralysis: a life threatening condition. ( 22311001 )
2012
30
Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome). ( 23767205 )
2012
31
Surgical treatment for thyrotoxic hypokalemic periodic paralysis: case report. ( 22273473 )
2012
32
A calcium channel mutant mouse model of hypokalemic periodic paralysis. ( 23187123 )
2012
33
Sjogren's syndrome presenting with hypokalemic periodic paralysis. ( 23405545 )
2012
34
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. ( 21845430 )
2012
35
A 20-year-old Chinese man with recurrent hypokalemic periodic paralysis and delayed diagnosis. ( 22665461 )
2012
36
Hypokalemic periodic paralysis. ( 23833504 )
2012
37
Paroxysmal supraventricular arrhythmias during hypokalemic episodes in a patient with hypokalemic periodic paralysis. ( 22728735 )
2012
38
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. ( 22399142 )
2012
39
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. ( 22094484 )
2011
40
Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. ( 21665951 )
2011
41
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations. ( 22253645 )
2011
42
[The relationships between the single nueleotide polymorphisms of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis in the people of Han Nationality in Sichuan Province, China]. ( 21774221 )
2011
43
Hypokalemic periodic paralysis due to proximal renal tubular acidosis in a case with membranoproliferative glomerulonephritis. ( 22616344 )
2011
44
Thyrotoxic hypokalemic periodic paralysis is a rare but potentially fatal emergency: case report and literature review. ( 22111475 )
2011
45
A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis. ( 21855088 )
2011
46
Treatment of hypokalemic periodic paralysis with topiramate. ( 21171065 )
2011
47
Expression patterns of two potassium channel genes in skeletal muscle cells of patients with familial hypokalemic periodic paralysis. ( 21891927 )
2011
48
Betamethasone-induced hypokalemic periodic paralysis in pregnancy. ( 21252779 )
2011
49
Thyrotoxic hypokalemic periodic paralysis due to dietary weight-loss supplement. ( 20068442 )
2011
50
An important piece has been placed in the puzzle of hypokalemic periodic paralysis. ( 21490318 )
2011

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 774)
# 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.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 GRCh37 Chromosome 1, 201047043: 201047043
10 CACNA1S NM_000069.2(CACNA1S): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 GRCh38 Chromosome 1, 201077915: 201077915
11 CACNA1S NM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 GRCh37 Chromosome 1, 201022666: 201022666
12 CACNA1S NM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 GRCh38 Chromosome 1, 201053538: 201053538
13 CACNA1S NM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly) single nucleotide variant Pathogenic rs28930069 GRCh37 Chromosome 1, 201022667: 201022667
14 CACNA1S NM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly) single nucleotide variant Pathogenic rs28930069 GRCh38 Chromosome 1, 201053539: 201053539
15 CACNA1S NM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu) single nucleotide variant Pathogenic rs267606698 GRCh37 Chromosome 1, 201036045: 201036045
16 CACNA1S NM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu) single nucleotide variant Pathogenic rs267606698 GRCh38 Chromosome 1, 201066917: 201066917
17 CACNA1S NM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly) single nucleotide variant Pathogenic rs80338778 GRCh37 Chromosome 1, 201047044: 201047044
18 CACNA1S NM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly) single nucleotide variant Pathogenic rs80338778 GRCh38 Chromosome 1, 201077916: 201077916
19 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
20 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
21 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh37 Chromosome 17, 62024451: 62024451
22 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh38 Chromosome 17, 63947091: 63947091
23 CACNA1S NM_000069.2(CACNA1S): c.2748C> G (p.His916Gln) single nucleotide variant Pathogenic rs2297902 GRCh38 Chromosome 1, 201065943: 201065943
24 CACNA1S NM_000069.2(CACNA1S): c.2748C> G (p.His916Gln) single nucleotide variant Pathogenic rs2297902 GRCh37 Chromosome 1, 201035071: 201035071
25 CACNA1S NM_000069.2(CACNA1S): c.4060A> T (p.Thr1354Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145910245 GRCh37 Chromosome 1, 201020165: 201020165
26 CACNA1S NM_000069.2(CACNA1S): c.4060A> T (p.Thr1354Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145910245 GRCh38 Chromosome 1, 201051037: 201051037
27 SCN4A NM_000334.4(SCN4A): c.3318+12C> A single nucleotide variant Benign rs13341114 GRCh37 Chromosome 17, 62025238: 62025238
28 SCN4A NM_000334.4(SCN4A): c.3318+12C> A single nucleotide variant Benign rs13341114 GRCh38 Chromosome 17, 63947878: 63947878
29 SCN4A NM_000334.4(SCN4A): c.2478C> T (p.Ile826=) single nucleotide variant Conflicting interpretations of pathogenicity rs371914255 GRCh37 Chromosome 17, 62029159: 62029159
30 SCN4A NM_000334.4(SCN4A): c.2478C> T (p.Ile826=) single nucleotide variant Conflicting interpretations of pathogenicity rs371914255 GRCh38 Chromosome 17, 63951799: 63951799
31 SCN4A NM_000334.4(SCN4A): c.4690G> A (p.Val1564Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202106192 GRCh37 Chromosome 17, 62018952: 62018952
32 SCN4A NM_000334.4(SCN4A): c.4690G> A (p.Val1564Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202106192 GRCh38 Chromosome 17, 63941592: 63941592
33 CACNA1S NM_000069.2(CACNA1S): c.4615C> T (p.Arg1539Cys) single nucleotide variant Benign rs3850625 GRCh37 Chromosome 1, 201016296: 201016296
34 CACNA1S NM_000069.2(CACNA1S): c.4615C> T (p.Arg1539Cys) single nucleotide variant Benign rs3850625 GRCh38 Chromosome 1, 201047168: 201047168
35 SCN4A NM_000334.4(SCN4A): c.553G> A (p.Asp185Asn) single nucleotide variant Uncertain significance rs778661227 GRCh37 Chromosome 17, 62049140: 62049140
36 SCN4A NM_000334.4(SCN4A): c.553G> A (p.Asp185Asn) single nucleotide variant Uncertain significance rs778661227 GRCh38 Chromosome 17, 63971780: 63971780
37 CACNA1S NM_000069.2(CACNA1S): c.4113+7T> C single nucleotide variant Benign rs6702590 GRCh37 Chromosome 1, 201020105: 201020105
38 CACNA1S NM_000069.2(CACNA1S): c.4113+7T> C single nucleotide variant Benign rs6702590 GRCh38 Chromosome 1, 201050977: 201050977
39 CACNA1S NM_000069.2(CACNA1S): c.2047C> T (p.Arg683Cys) single nucleotide variant Benign/Likely benign rs35708442 GRCh37 Chromosome 1, 201043650: 201043650
40 CACNA1S NM_000069.2(CACNA1S): c.2047C> T (p.Arg683Cys) single nucleotide variant Benign/Likely benign rs35708442 GRCh38 Chromosome 1, 201074522: 201074522
41 CACNA1S NM_000069.2(CACNA1S): c.530C> T (p.Ser177Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141204958 GRCh37 Chromosome 1, 201061111: 201061111
42 CACNA1S NM_000069.2(CACNA1S): c.530C> T (p.Ser177Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141204958 GRCh38 Chromosome 1, 201091983: 201091983
43 CACNA1S NM_000069.2(CACNA1S): c.3526-2A> G single nucleotide variant Pathogenic rs797045031 GRCh37 Chromosome 1, 201027621: 201027621
44 CACNA1S NM_000069.2(CACNA1S): c.3526-2A> G single nucleotide variant Pathogenic rs797045031 GRCh38 Chromosome 1, 201058493: 201058493
45 CACNA1S NM_000069.2(CACNA1S): c.2992G> A (p.Asp998Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116347156 GRCh37 Chromosome 1, 201031133: 201031133
46 CACNA1S NM_000069.2(CACNA1S): c.2992G> A (p.Asp998Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116347156 GRCh38 Chromosome 1, 201062005: 201062005
47 CACNA1S NM_000069.2(CACNA1S): c.1547C> T (p.Ser516Leu) single nucleotide variant Benign/Likely benign rs140662085 GRCh37 Chromosome 1, 201047079: 201047079
48 CACNA1S NM_000069.2(CACNA1S): c.1547C> T (p.Ser516Leu) single nucleotide variant Benign/Likely benign rs140662085 GRCh38 Chromosome 1, 201077951: 201077951
49 SCN4A NM_000334.4(SCN4A): c.952T> C (p.Trp318Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199676994 GRCh37 Chromosome 17, 62045467: 62045467
50 SCN4A NM_000334.4(SCN4A): c.952T> C (p.Trp318Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199676994 GRCh38 Chromosome 17, 63968107: 63968107

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 plasma membrane GO:0005886 9.96 ATP6V0A4 CACNA1C CACNA1S CLCN1 INS KCNE3
2 sarcolemma GO:0042383 9.5 CACNA1S CLCN1 RYR1
3 voltage-gated calcium channel complex GO:0005891 9.46 CACNA1C CACNA1S
4 smooth endoplasmic reticulum GO:0005790 9.43 KCNJ2 RYR1
5 I band GO:0031674 9.4 CACNA1S RYR1
6 voltage-gated potassium channel complex GO:0008076 9.33 KCNE3 KCNE5 KCNJ2
7 L-type voltage-gated calcium channel complex GO:1990454 8.96 CACNA1C CACNA1S
8 T-tubule GO:0030315 8.8 CACNA1S KCNJ2 RYR1
9 integral component of membrane GO:0016021 10.07 ATP6V0A4 CACNA1C CACNA1S CLCN1 KCNE3 KCNE4

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 CACNA1C CACNA1S CLCN1 RYR1 SCN4A
2 ion transmembrane transport GO:0034220 9.77 ATP6V0A4 CACNA1C CLCN1 RYR1 SCN4A
3 calcium ion transport GO:0006816 9.76 CACNA1C CACNA1S RYR1
4 potassium ion transport GO:0006813 9.75 KCNE3 KCNE4 KCNJ2
5 calcium ion transmembrane transport GO:0070588 9.73 CACNA1C CACNA1S RYR1
6 potassium ion transmembrane transport GO:0071805 9.73 KCNE3 KCNE4 KCNE5 KCNJ2
7 cardiac conduction GO:0061337 9.63 CACNA1C CACNA1S KCNJ2
8 muscle contraction GO:0006936 9.62 CACNA1S CLCN1 RYR1 SCN4A
9 calcium ion import GO:0070509 9.59 CACNA1C CACNA1S
10 membrane depolarization during action potential GO:0086010 9.58 CACNA1C CACNA1S SCN4A
11 regulation of potassium ion transmembrane transport GO:1901379 9.57 KCNE3 KCNE5
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.55 CACNA1C KCNJ2
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.54 KCNE5 KCNJ2
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.52 CACNA1C KCNJ2
15 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.51 KCNE5 KCNJ2
16 regulation of ion transmembrane transport GO:0034765 9.5 CACNA1C CACNA1S CLCN1 KCNE3 KCNE4 KCNJ2
17 cellular response to caffeine GO:0071313 9.48 CACNA1S RYR1
18 regulation of heart rate by cardiac conduction GO:0086091 9.46 CACNA1C KCNE3 KCNE5 KCNJ2
19 regulation of membrane repolarization GO:0060306 9.43 KCNE3 KCNE5 KCNJ2
20 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 11)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.65 CACNA1C CACNA1S RYR1
2 ion channel activity GO:0005216 9.63 CACNA1C RYR1 SCN4A
3 ion channel binding GO:0044325 9.61 KCNE3 KCNE4 KCNE5
4 calcium channel activity GO:0005262 9.54 CACNA1C CACNA1S RYR1
5 voltage-gated potassium channel activity GO:0005249 9.5 KCNE3 KCNE4 KCNE5
6 potassium channel regulator activity GO:0015459 9.49 KCNE3 KCNE5
7 high voltage-gated calcium channel activity GO:0008331 9.4 CACNA1C CACNA1S
8 cation channel activity GO:0005261 9.33 CACNA1C CACNA1S SCN4A
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE5 KCNJ2
10 voltage-gated calcium channel activity GO:0005245 9.13 CACNA1C CACNA1S RYR1
11 voltage-gated ion channel activity GO:0005244 8.92 CACNA1C CACNA1S KCNJ2 SCN4A

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
Content
Loading form....