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 53 13
Hypokalemic Periodic Paralysis 53 12 72 23 49 24 55 36 28 51 41 14 69
Hokpp 53 23 49 24 71
Hypopp 23 49 24 71
Westphall Disease 24 55 71
Familial Hypokalemic Periodic Paralysis 12 24
Hypokalemic Periodic Paralysis Type 1 72 69
Familial Periodic Paralysis 12 69
Hokpp1 53 71
Hypokalemic Familial Periodic Paralysis 12
Primary Hypokalemic Periodic Paralysis 24
Hypokalemic Periodic Paralysis; Hokpp 53
Periodic Paralysis Hypokalemic 1 71
Hypokalemic Periodic Paralysis 1 28
Periodic Hypokalemic Paralysis 12
Periodic Paralysis I 12
Hypokpp 24

Characteristics:

Orphanet epidemiological data:

55
hypokalemic periodic paralysis
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
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:

31
hypokalemic periodic paralysis, type 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

23
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: 55  
Rare neurological diseases


External Ids:

OMIM 53 170400
Disease Ontology 12 DOID:14452
ICD10 32 G72.3
MeSH 41 D020514
NCIt 46 C84775
Orphanet 55 ORPHA681
MESH via Orphanet 42 D020514
UMLS via Orphanet 70 C0238358 C0238357
ICD10 via Orphanet 33 G72.3
KEGG 36 H00746

Summaries for Hypokalemic Periodic Paralysis, Type 1

NIH Rare Diseases : 49 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. Last updated: 6/12/2017

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 emg abnormality, fatigable weakness of respiratory muscles and adrenocortical adenoma. 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 smooth muscle, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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 : 71 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 : 24 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 : 72 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 34.4 QDPR SCN4A
2 familial periodic paralysis 32.6 ATP6V0A4 CACNA1S CLCN1 KCNE3 KCNJ2 QDPR
3 hyperkalemic periodic paralysis 31.5 CACNA1S CLCN1 KCNE3 KCNJ2 SCN4A
4 graves disease 1 30.5 CACNA1S SCN4A
5 thyrotoxic periodic paralysis 30.5 CACNA1S KCNJ2
6 westphal disease 12.1
7 thyrotoxic periodic paralysis 1 11.3
8 familial periodic paralyses 11.1
9 malignant hyperthermia of anesthesia 10.4 CACNA1S RYR1
10 central core disease of muscle 10.4 CACNA1S RYR1
11 familial long qt syndrome 10.4 CACNA1C KCNJ2
12 myotonia congenita 10.3 CLCN1 SCN4A
13 malignant hyperthermia susceptibility 10.3 CACNA1S RYR1 SCN4A
14 muscle disorders 10.3 CLCN1 RYR1
15 native american myopathy 10.2 CACNA1S QDPR RYR1
16 central core myopathy 10.2 CACNA1S QDPR RYR1
17 long qt syndrome 6 10.2 CACNA1C KCNJ2
18 myotonic disease 10.2 CLCN1 RYR1 SCN4A
19 metal metabolism disorder 10.2 CACNA1S SCN4A
20 inflammatory and toxic neuropathy 10.2 INS SCN4A
21 hyperglobulinemic purpura 10.1 ATP6V0A4 BRD4
22 periodic paralyses 10.1 CACNA1S KCNE3 KCNJ2 SCN4A
23 familial atrial fibrillation 10.1 KCNE3 KCNE5 KCNJ2
24 malignant hyperthermia 10.1 CACNA1S QDPR RYR1 SCN4A
25 primary hypomagnesemia 10.0 ATP6V0A4 BRD4
26 wolff-parkinson-white syndrome 9.9
27 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
28 hyperuricemia 9.9
29 myopathy 9.9
30 hypokalemia 9.9
31 brugada syndrome 9.9 CACNA1C KCNE3 KCNE5 SCN4A
32 long qt syndrome 9.9 CACNA1C KCNE3 KCNE5 KCNJ2
33 long qt syndrome 1 9.8 CACNA1C KCNE3 KCNJ2 KCNQ5
34 diabetes mellitus, ketosis-prone 9.8 BRD4 INS
35 critical illness polyneuropathy 9.7 INS SCN4A
36 charcot-marie-tooth disease 9.7
37 tooth disease 9.7
38 waardenburg's syndrome 9.7

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:

53
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:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
2 fatigable weakness of respiratory muscles 55 31 very rare (1%) Very rare (<4-1%) HP:0030196
3 adrenocortical adenoma 55 31 very rare (1%) Very rare (<4-1%) HP:0008256
4 periodic hypokalemic paresis 55 31 obligate (100%) Obligate (100%) HP:0008153
5 episodic hypokalemia 55 31 obligate (100%) Obligate (100%) HP:0012726
6 episodic flaccid weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003752
7 mildly elevated creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0008180
8 increased intramyocellular lipid droplets 55 31 hallmark (90%) Very frequent (99-80%) HP:0012240
9 exercise-induced muscle fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0009020
10 postprandial hyperglycemia 55 31 frequent (33%) Frequent (79-30%) HP:0011998
11 late-onset proximal muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0003694
12 respiratory paralysis 55 31 very rare (1%) Very rare (<4-1%) HP:0002203
13 hypokalemia 31 HP:0002900
14 myopathy 31 occasional (7.5%) HP:0003198
15 myotonia 55 Excluded (0%)
16 paralysis 55 Very frequent (99-80%)
17 abnormality of muscle fibers 55 Very frequent (99-80%)
18 impaired myocardial contractility 55 Excluded (0%)
19 periodic hyperkalemic paralysis 31 HP:0007215

UMLS symptoms related to Hypokalemic Periodic Paralysis, Type 1:


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

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 SCN4A INS ATP6V0A4 CACNA1C KCNJ2 CACNA1S
2 homeostasis/metabolism MP:0005376 9.96 SCN4A INS ATP6V0A4 KCNE3 CACNA1C KCNJ2
3 mortality/aging MP:0010768 9.9 INS ATP6V0A4 CACNA1C KCNJ2 CACNA1S KCNQ5
4 digestive/alimentary MP:0005381 9.85 INS KCNE3 KCNJ2 CACNA1S CACNB4 RYR1
5 hearing/vestibular/ear MP:0005377 9.72 SCN4A ATP6V0A4 KCNE3 CACNB4 CLCN1
6 muscle MP:0005369 9.56 INS CACNA1C KCNJ2 CACNA1S CACNB4 RYR1
7 skeleton MP:0005390 9.17 CLCN1 INS ATP6V0A4 KCNJ2 CACNA1S 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 28
2 Hypokalemic Periodic Paralysis 1 28 CACNA1S SCN4A

Anatomical Context for Hypokalemic Periodic Paralysis, Type 1

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

38
Smooth Muscle

Publications for Hypokalemic Periodic Paralysis, Type 1

Articles related to Hypokalemic Periodic Paralysis, Type 1:

(show top 50) (show all 278)
# Title Authors Year
1
Tenofovir-Induced Fanconi Syndrome Presenting as Hypokalemic Periodic Paralysis. ( 27574926 )
2016
2
A novel Kir2.6 mutation associated with hypokalemic periodic paralysis. ( 27178871 )
2016
3
Myasthenia gravis accompanied by Graves' disease, thyrotoxic hypokalemic periodic paralysis and thymic hyperplasia. ( 27381127 )
2016
4
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. ( 26252573 )
2015
5
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent. ( 25893123 )
2015
6
Thyrotoxic hypokalemic periodic paralysis in an African male: a case report. ( 25767707 )
2015
7
The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis. ( 26433613 )
2015
8
Successful treatment of hypokalemic periodic paralysis with topiramate. ( 25065459 )
2014
9
Possible brugada phenocopy induced by hypokalemia in a patient with congenital hypokalemic periodic paralysis. ( 24652091 )
2014
10
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis. ( 25024265 )
2014
11
The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis. ( 25379045 )
2014
12
Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause? ( 25088161 )
2014
13
Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. ( 25153560 )
2014
14
Hypokalemic periodic paralysis in Sjogren's syndrome secondary to distal renal tubular acidosis. ( 22212410 )
2013
15
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis. ( 23427324 )
2013
16
Acute hypokalemic periodic paralysis possibly precipitated by albuterol. ( 23988599 )
2013
17
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. ( 23019082 )
2013
18
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis. ( 23956568 )
2013
19
Thyrotoxic hypokalemic periodic paralysis: two case reports and a brief review of literature. ( 24156178 )
2013
20
V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman. ( 23948435 )
2013
21
Hypokalemic periodic paralysis and distal renal tubular acidosis associated with renal morphological changes. ( 23680609 )
2013
22
Hypokalemic periodic paralysis: two cases of profound weakness. ( 23816210 )
2013
23
Hypokalemic periodic paralysis as first sign of thyrotoxicosis. ( 23599824 )
2013
24
Unilateral gynecomastia and hypokalemic periodic paralysis as first manifestations of Graves' disease. ( 23276903 )
2013
25
Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis. ( 23953801 )
2013
26
Hypokalemic periodic paralysis induced by thymic hyperplasia and relieved by thymectomy. ( 24061198 )
2013
27
Comparative study of thyrotoxic periodic paralysis from idiopathic hypokalemic periodic paralysis: An experience from India. ( 22919190 )
2012
28
Surgical treatment for thyrotoxic hypokalemic periodic paralysis: case report. ( 22273473 )
2012
29
A 20-year-old Chinese man with recurrent hypokalemic periodic paralysis and delayed diagnosis. ( 22665461 )
2012
30
Sjogren's syndrome presenting with hypokalemic periodic paralysis. ( 23405545 )
2012
31
Hypokalemic periodic paralysis. ( 23833504 )
2012
32
A calcium channel mutant mouse model of hypokalemic periodic paralysis. ( 23187123 )
2012
33
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. ( 21845430 )
2012
34
Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome). ( 23767205 )
2012
35
Gastro-enteritis in hypokalemic periodic paralysis: a life threatening condition. ( 22311001 )
2012
36
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. ( 22399142 )
2012
37
Paroxysmal supraventricular arrhythmias during hypokalemic episodes in a patient with hypokalemic periodic paralysis. ( 22728735 )
2012
38
Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. ( 21665951 )
2011
39
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations. ( 22253645 )
2011
40
A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis. ( 21881211 )
2011
41
An important piece has been placed in the puzzle of hypokalemic periodic paralysis. ( 21490318 )
2011
42
Hypokalemic periodic paralysis due to proximal renal tubular acidosis in a case with membranoproliferative glomerulonephritis. ( 22616344 )
2011
43
Treatment of hypokalemic periodic paralysis with topiramate. ( 21171065 )
2011
44
Expression patterns of two potassium channel genes in skeletal muscle cells of patients with familial hypokalemic periodic paralysis. ( 21891927 )
2011
45
Betamethasone-induced hypokalemic periodic paralysis in pregnancy. ( 21252779 )
2011
46
Thyrotoxic hypokalemic periodic paralysis due to dietary weight-loss supplement. ( 20068442 )
2011
47
A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis. ( 21855088 )
2011
48
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. ( 22094484 )
2011
49
Thyrotoxic hypokalemic periodic paralysis is a rare but potentially fatal emergency: case report and literature review. ( 22111475 )
2011
50
[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

Variations for Hypokalemic Periodic Paralysis, Type 1

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

71
# 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 all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1S NM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His) single nucleotide variant Pathogenic rs28930068 GRCh37 Chromosome 1, 201022666: 201022666
2 CACNA1S NM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly) single nucleotide variant Pathogenic rs28930069 GRCh37 Chromosome 1, 201022667: 201022667
3 CACNA1S NM_000069.2(CACNA1S): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs80338777 GRCh37 Chromosome 1, 201047043: 201047043
4 CACNA1S NM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu) single nucleotide variant Pathogenic rs267606698 GRCh37 Chromosome 1, 201036045: 201036045
5 CACNA1S NM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly) single nucleotide variant Pathogenic rs80338778 GRCh37 Chromosome 1, 201047044: 201047044
6 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
7 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh37 Chromosome 17, 62024451: 62024451
8 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh37 Chromosome 17, 68171341: 68171341
9 CACNA1S NM_000069.2(CACNA1S): c.2748C> G (p.His916Gln) single nucleotide variant Pathogenic rs2297902 GRCh38 Chromosome 1, 201065943: 201065943
10 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh37 Chromosome 17, 62036638: 62036638
11 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh37 Chromosome 17, 62036629: 62036629
12 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
13 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
14 CACNA1S NM_000069.2(CACNA1S): c.3526-2A> G single nucleotide variant Pathogenic rs797045031 GRCh37 Chromosome 1, 201027621: 201027621

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:

36
# 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 CACNA1C CACNA1S INS RYR1
2
Show member pathways
12.56 CACNA1C CACNA1S CACNB4 INS
3
Show member pathways
12.56 CACNA1C CACNA1S KCNJ2 KCNQ5 RYR1
4 12.53 CACNA1C CACNA1S CACNB4 INS
5
Show member pathways
12.52 CACNA1C CACNA1S CACNB4 INS KCNJ2 RYR1
6
Show member pathways
12.34 CACNA1C CACNA1S CACNB4 KCNE3 KCNE4 KCNE5
7
Show member pathways
12.31 CACNA1C CACNA1S CACNB4 RYR1
8 12.06 CACNA1C CACNA1S CACNB4 KCNE3 KCNE4 KCNJ2
9
Show member pathways
12.04 CACNA1C CACNA1S RYR1
10
Show member pathways
11.99 CACNA1C CACNA1S CACNB4
11 11.91 CACNA1C CACNA1S CACNB4 RYR1
12
Show member pathways
11.85 CACNA1C CACNA1S CACNB4
13
Show member pathways
11.83 CACNA1C CACNA1S CLCN1 INS
14 11.59 CACNA1C CACNA1S CACNB4
15 11.5 CACNA1C CACNA1S KCNJ2
16 11.43 CACNA1C CACNA1S CACNB4 KCNQ5
17 11.4 CACNA1C KCNE3 KCNE4 KCNE5 KCNJ2
18 11.31 CACNA1C CACNA1S CACNB4 RYR1
19 11.22 CACNA1C CACNA1S CACNB4
20
Show member pathways
11.04 CACNA1C CACNA1S CACNB4 KCNE3 KCNE4 KCNE5
21 10.62 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 smooth endoplasmic reticulum GO:0005790 9.43 KCNJ2 RYR1
2 I band GO:0031674 9.4 CACNA1S RYR1
3 T-tubule GO:0030315 9.33 CACNA1S KCNJ2 RYR1
4 L-type voltage-gated calcium channel complex GO:1990454 9.26 CACNA1C CACNA1S
5 voltage-gated calcium channel complex GO:0005891 9.13 CACNA1C CACNA1S CACNB4
6 voltage-gated potassium channel complex GO:0008076 8.92 KCNE3 KCNE5 KCNJ2 KCNQ5
7 integral component of membrane GO:0016021 10.11 ATP6V0A4 CACNA1C CACNA1S CLCN1 KCNE3 KCNE4
8 plasma membrane GO:0005886 10.06 ATP6V0A4 CACNA1C CACNA1S CACNB4 CLCN1 KCNE3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.99 CACNA1C CACNA1S CLCN1 KCNQ5 RYR1 SCN4A
2 transport GO:0006810 9.9 ATP6V0A4 CACNA1C CACNA1S CACNB4 CLCN1 KCNE3
3 calcium ion transport GO:0006816 9.8 CACNA1C CACNA1S CACNB4 RYR1
4 ion transmembrane transport GO:0034220 9.8 ATP6V0A4 CACNA1C CLCN1 RYR1 SCN4A
5 potassium ion transport GO:0006813 9.78 KCNE3 KCNE4 KCNJ2 KCNQ5
6 calcium ion transmembrane transport GO:0070588 9.76 CACNA1C CACNA1S CACNB4 RYR1
7 muscle contraction GO:0006936 9.73 CACNA1S CLCN1 RYR1 SCN4A
8 ion transport GO:0006811 9.73 ATP6V0A4 CACNA1C CACNA1S CACNB4 CLCN1 KCNE3
9 potassium ion transmembrane transport GO:0071805 9.72 KCNE3 KCNE4 KCNE5 KCNJ2 KCNQ5
10 cardiac conduction GO:0061337 9.67 CACNA1C CACNA1S CACNB4 KCNJ2
11 membrane depolarization during action potential GO:0086010 9.58 CACNA1S SCN4A
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 CACNA1C KCNJ2
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.57 KCNE5 KCNJ2
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.56 CACNA1C KCNJ2
15 regulation of heart rate by cardiac conduction GO:0086091 9.56 CACNA1C KCNE3 KCNE5 KCNJ2
16 regulation of membrane repolarization GO:0060306 9.55 KCNE5 KCNJ2
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.54 KCNE5 KCNJ2
18 cellular response to caffeine GO:0071313 9.52 CACNA1S RYR1
19 regulation of ion transmembrane transport GO:0034765 9.32 CACNA1C CACNA1S CACNB4 CLCN1 KCNE3 KCNE4

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

# 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 calcium channel activity GO:0005262 9.62 CACNA1C CACNA1S CACNB4 RYR1
4 ion channel binding GO:0044325 9.61 KCNE3 KCNE4 KCNE5
5 potassium channel activity GO:0005267 9.58 KCNE3 KCNE4 KCNQ5
6 voltage-gated potassium channel activity GO:0005249 9.56 KCNE3 KCNE4 KCNE5 KCNQ5
7 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.37 KCNE5 KCNJ2
8 high voltage-gated calcium channel activity GO:0008331 9.33 CACNA1C CACNA1S CACNB4
9 voltage-gated calcium channel activity GO:0005245 9.26 CACNA1C CACNA1S CACNB4 RYR1
10 voltage-gated ion channel activity GO:0005244 9.1 CACNA1C CACNA1S CLCN1 KCNJ2 KCNQ5 SCN4A

Sources for Hypokalemic Periodic Paralysis, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....