HOKPP
MCID: HYP051
MIFTS: 53

Hypokalemic Periodic Paralysis (HOKPP) malady

Genetic category

Summaries for Hypokalemic Periodic Paralysis

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Hypokalemic Periodic Paralysis, also known as periodic hypokalemic paralysis, is related to malignant hyperthermia and hypokalemia. An important gene associated with Hypokalemic Periodic Paralysis is SCN4A (sodium channel, voltage-gated, type IV, alpha subunit), and among its related pathways are Development Ligand-independent activation of ESR1 and ESR2 and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). The compounds fpl64176 and calciseptine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, thyroid and pituitary, and related mouse phenotypes are skeleton and muscle.

NIH Rare Diseases:43 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. the duration and frequency of the episodes may vary. hypokalemic periodic paralysis is caused by mutations in the cacna1s and scn4a genes which are inherited in an autosomal dominant fashion. a small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in these genes. in these cases, the cause of the condition is unknown. paralytic crises can be treated with oral or iv potassium. other management includes prevention of crises and support of specific symptoms. last updated: 9/16/2009

Wikipedia:64 Hypokalemic periodic paralysis is a rare, autosomal dominant channelopathy characterized by muscle... more...

Description from OMIM:47 170400,613345

GeneReviews summary for hpp

Aliases & Classifications for Hypokalemic Periodic Paralysis

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 20GeneTests, 22GTR, 57SNOMED-CT, 40NCIt, 47OMIM, 35MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

hypokalemic periodic paralysis 8 19 43 21 10 45 61
periodic hypokalemic paralysis 8 20 22
familial periodic paralysis 8 43 61
hypopp 19 43 21
hokpp 19 43 21
familial hypokalemic periodic paralysis 8 21
hypokalemic familial periodic paralysis 8
primary hypokalemic periodic paralysis 21
periodic paralysis i 8
westphall disease 21
hypokpp 21


Related Diseases for Hypokalemic Periodic Paralysis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the hypokalemic periodic paralysis type 1 family:

hypokalemic periodic paralysis hypokalemic periodic paralysis type 2

Diseases related to Hypokalemic Periodic Paralysis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia30.7CACNA1S, SCN4A, RYR1, QDPR
2hypokalemia30.5SLC12A3, SCN4A, CACNA1S, INS
3hyperkalemic periodic paralysis30.3SCN4A, KCNJ2, KCNE3, CLCN1
4normokalemic periodic paralysis30.1SCN4A
5thyrotoxic periodic paralysis11.1
6renal tubular acidosis10.7
7thyrotoxicosis10.7
8hypokalemic periodic paralysis type 110.7
9graves' disease10.5
10renal tubular acidosis, distal10.5
11hypokalemic periodic paralysis type 210.5
12sjogren's syndrome10.4
13hypophosphatemia10.4
14gitelman syndrome10.4
15adenoma10.4
16thyrotoxic periodic paralysis 110.4
17hyperkalemic periodic paralysis type 210.2
18membranoproliferative glomerulonephritis10.2
19wolff-parkinson-white syndrome10.2
20hepatitis c10.2
21hyperuricemia10.2
22andersen-tawil syndrome10.2
23superior mesenteric artery syndrome10.2
24diabetes insipidus10.2
25amelogenesis imperfecta10.2
26tropical sprue10.2
27gynecomastia10.2
28hypophosphatasia10.2
29nephrogenic diabetes insipidus10.2
30hepatitis a10.2
31thyroiditis10.2
32hypomyelination and congenital cataract10.2
33bidirectional tachycardia10.2
34growth hormone deficiency10.2
35westphal disease10.2
36thymic hyperplasia10.2
37myotonia10.2
38thyroid adenoma10.2
39primary renal tubular acidosis10.2
40waardenburg's syndrome10.1
41infectious mononucleosis10.1
42tooth disease10.1
43familial periodic paralyses10.1
44periodic paralyses10.1
45familial atrial fibrillation10.0KCNE3
46myasthenia gravis10.0RYR1
47paramyotonia congenita10.0SCN4A
48thomsen disease10.0CLCN1
49malignant hyperthermia susceptibility10.0CACNA1S, RYR1
50bartter disease10.0KCNJ12

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



Diseases related to hypokalemic periodic paralysis

Clinical Features for Hypokalemic Periodic Paralysis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

170400,613345

Drugs & Therapeutics for Hypokalemic Periodic Paralysis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hypokalemic Periodic Paralysis

Drug clinical trials:

Search ClinicalTrials for Hypokalemic Periodic Paralysis

Search NIH Clinical Center for Hypokalemic Periodic Paralysis

Search CenterWatch for Hypokalemic Periodic Paralysis

Genetic Tests for Hypokalemic Periodic Paralysis

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hypokalemic Periodic Paralysis:

id Genetic test Affiliating Genes
1 Hypokalemic Periodic Paralysis20 22 SCN4A

Anatomical Context for Hypokalemic Periodic Paralysis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hypokalemic Periodic Paralysis:

33
Skeletal muscle, Thyroid, Pituitary

Animal Models for Hypokalemic Periodic Paralysis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hypokalemic Periodic Paralysis

Sources:
51PubMed
See all sources

Articles related to Hypokalemic Periodic Paralysis:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis. (23427324)
2013
2
Hypokalemic periodic paralysis: two cases of profound weakness. (23816210)
2013
3
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. (22399142)
2012
4
Comparative study of thyrotoxic periodic paralysis from idiopathic hypokalemic periodic paralysis: An experience from India. (22919190)
2012
5
An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A. (21189962)
2010
6
Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis. (19822448)
2010
7
Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family. (21043388)
2010
8
A mask and many faces: hypokalemic periodic paralysis. (18708976)
2008
9
Do hyperpolarization-induced proton currents contribute to the pathogenesis of hypokalemic periodic paralysis, a voltage sensor channelopathy? (17591982)
2007
10
Images in cardiovascular medicine. An electrocardiogram triad in thyrotoxic hypokalemic periodic paralysis. (17296862)
2007
11
Thyrotoxic hypokalemic periodic paralysis triggered by high carbohydrate diet. (17890941)
2007
12
A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore. (17591984)
2007
13
Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. (16890191)
2006
14
Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis. (15795511)
2005
15
Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. (15072700)
2004
16
SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide. (15557532)
2004
17
Severe prognosis in a large family with hypokalemic periodic paralysis. (12548523)
2003
18
A case of Gitelman's syndrome presenting with the hypokalemic periodic paralysis]. (12561088)
2002
19
Amiodarone-induced thyrotoxicosis presenting as hypokalemic periodic paralysis. (12540001)
2002
20
Hypokalemic thyrotoxic periodic paralysis. (11146030)
2001
21
Familial hypokalemic periodic paralysis]. (15775665)
2001
22
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. (10944223)
2000
23
Thyrotoxic hypokalemic periodic paralysis case report and review of the literature. (10812764)
2000
24
Bilateral vocal fold paralysis caused by familial hypokalemic periodic paralysis. (10229618)
1999
25
Hypokalemic periodic paralysis: a case study. (9579250)
1998
26
Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. (9066893)
1997
27
Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. (9196905)
1997
28
Enhancement of "end-plate monophasic waves" during an attack of hypokalemic periodic paralysis. (8618578)
1996
29
Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels. (7676316)
1995
30
Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. (8195801)
1994
31
Hypokalemic periodic paralysis in association with tropical sprue: a case report. (7887139)
1994
32
Malignant hyperthermia in a patient with hypokalemic periodic paralysis. (7978380)
1994
33
SjAPgren's syndrome presenting as hypokalemic periodic paralysis. (8250993)
1993
34
Potential role of acute hypophosphatemia during hypokalemic periodic paralysis attack. (2233417)
1990
35
Sudden deafness in a man with thyrotoxic hypokalemic periodic paralysis. (3193664)
1988
36
Insulin-mediated hypokalemia and paralysis in familial hypokalemic periodic paralysis. (3287913)
1988
37
Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (1). (3819899)
1987
38
Hypokalemic periodic paralysis of thyrotoxic origin. (3435326)
1987
39
Hypokalemic periodic paralysis: a rarely considered diagnosis in the pediatric patient. (3857049)
1985
40
Hypokalemic periodic paralysis. (6484700)
1984
41
Intravenous treatment of hypokalemic periodic paralysis. (6412669)
1983
42
Hypokalemic periodic paralysis exacerbated by acetazolamide. (7031501)
1981
43
Internalized capillaries in hypokalemic periodic paralysis. (7271546)
1981
44
Hypokalemic periodic paralysis associated with multiple sclerosis. (7398686)
1980
45
Hypokalemic periodic paralysis in a thyrotoxic white man, case report. (7354751)
1980
46
The role of mineralocorticoids in the pathogenesis of hypokalemic periodic paralysis. (4371562)
1974
47
Hypokalemic periodic paralysis studies in vitro. (5507013)
1970
48
Muscle pathology in hypokalemic periodic paralysis with hyperthyroidism. I. High resolution light microscopic study of a case. (5439132)
1970
49
Muscle pathology in hypokalemic periodic paralysis with hyperthyroidism. II. A light and electron microscopic study. (5439128)
1970
50
Hypokalemic periodic paralysis. Experimental precipitation with sodium liothyronine. (5953408)
1966

Genetic Variations for Hypokalemic Periodic Paralysis

Expression for genes affiliated with Hypokalemic Periodic Paralysis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypokalemic Periodic Paralysis

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

Pathways for genes affiliated with Hypokalemic Periodic Paralysis

Sources:
12EMD Millipore, 50PharmGKB, 54Reactome, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database
See all sources

Pathways related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development Ligand-independent activation of ESR1 and ESR2
Hide members
10.3CACNA1S
29.8CACNA1C, CACNA1D
3
Hide members
9.8CACNA1C, CACNA1D
49.8CACNA1C, CACNA1D
5
Hide members
9.6CACNA1S, CACNA1C, CACNA1D
69.6CACNA1S, CACNA1C, CACNA1D
7
Hide members
9.6CACNA1D, CACNA1S, CACNA1C
89.6CACNA1S, CACNA1C, CACNA1D
9
Hide members
9.6CACNA1D, CACNA1S, CACNA1C
109.6CACNA1S, CACNA1D, CACNA1C
11
Hide members
9.6CACNA1D, CACNA1C, CACNA1S
129.6CACNA1C, CACNA1S, CACNA1D
13
Hide members
9.6CACNA1D, CACNA1C, CACNA1S
149.6CACNA1C, CACNA1D, CACNA1S
15
Hide members
9.6CACNA1C, CACNA1D, CACNA1S
169.4KCNJ2, KCNJ12
17
Hide members
9.3INS, CACNA1D, CACNA1C
18
Hide members
9.3INS, CACNA1D, CACNA1C
199.3CACNA1S, CACNA1C, RYR1, CACNA1D
209.3RYR1, CACNA1D, CACNA1C, CACNA1S
219.3CACNA1D, CACNA1C, CACNA1S, RYR1
22
Hide members
9.3CACNA1S, RYR1, CACNA1C, CACNA1D
23
Hide members
9.1CACNA1S, INS, CACNA1D, CACNA1C
249.1CACNA1D, INS, CACNA1C, CACNA1S
25
Hide members
9.0CACNA1C, CACNA1D, QDPR, RYR1, CACNA1S
26
Hide members
8.9SLC12A3, CLCN1, SCN4A, SCN7A
27
Hide members
8.8CACNA1D, RYR1, INS, CACNA1C, CACNA1S
28
Hide members
8.8ABCC9, KCNJ12, KCNJ2
29
Hide members
8.7CACNA1C, CLCN1, CACNA1D, INS, CACNA1S
30
Hide members
8.7SCN4A, SCN7A, CACNA1D, CACNA1C, CACNA1S
31
Hide members
8.7CACNA1C, CACNA1D, SCN4A, SCN7A, CACNA1S
328.7KCNE3, ABCC9, CACNA1C, KCNJ2, CACNA1D
338.6ABCC9, KCNJ2, KCNE3, KCNJ12
348.2CACNA1C, CACNA1D, KCNE3, KCNJ12, KCNJ2, CACNA1S
35
Hide members
8.2KCNJ12, CACNA1D, CACNA1C, CACNA1S, KCNJ2, RYR1
36
Hide members
8.1CACNA1C, CACNA1S, RYR1, CACNA1D, CLCN1, SCN4A

Compounds for genes affiliated with Hypokalemic Periodic Paralysis

Sources:
29IUPHAR, 11DrugBank, 45Novoseek, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

Compounds related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1fpl641762910.3CACNA1S, CACNA1C
2calciseptine2910.3CACNA1S, CACNA1C
3sz(+)-(s)-202-7912910.3CACNA1S, CACNA1C
4Magnesium Sulfate1110.3CACNA1C, CACNA1S
5dantrolene45 29 1112.1CHKB, RYR1
6succinylcholine45 29 1112.1RYR1, CHKB, SCN4A
7[3h](+)-isradipine2910.0CACNA1S, CACNA1C, CACNA1D
8(-)-(s)-bayk86442910.0CACNA1S, CACNA1C, CACNA1D
9Clevidipine1110.0CACNA1S, CACNA1C, CACNA1D
10nisoldipine45 29 1112.0CACNA1S, CACNA1D, CACNA1C
11(+-)-bay k 86446010.0CACNA1C, CACNA1S, CACNA1D
12nnc 55-0396 dihydrochloride6010.0CACNA1C, CACNA1D, CACNA1S
13ryanodine45 29 6012.0RYR1, QDPR, CACNA1S
14mibefradil dihydrochloride6010.0CACNA1S, CACNA1C, CACNA1D
15omega-conotoxin gvia6010.0CACNA1S, CACNA1C, CACNA1D
16pregabalin60 45 1112.0CACNA1S, CACNA1C, CACNA1D
17isradipine45 29 1112.0CACNA1C, CACNA1D, CACNA1S
18diltiazem45 29 1112.0CHKB, CACNA1C, CACNA1S
19nilvadipine45 1111.0CACNA1D, CACNA1C, CACNA1S
20Cinnarizine1110.0CACNA1S, CACNA1D, CACNA1C
21nimodipine45 29 1112.0CACNA1S, CACNA1D, CACNA1C
22Dronedarone119.9CACNA1C, CACNA1S, CACNA1D
23nitrendipine45 50 29 1112.9CACNA1D, CACNA1C, CACNA1S
24felodipine45 29 1111.9CACNA1S, CACNA1C, CACNA1D
25mibefradil45 29 1111.9CACNA1D, CACNA1C, CACNA1S
26amlodipine45 50 11 2412.9CACNA1S, CACNA1C, CACNA1D
27mgadp459.9CHKB, ABCC9
28beta-hydroxybutyrate459.9INS, CHKB
29lead459.8CHKB, QDPR, RYR1
30meglitinide459.8INS, ABCC9
31dihydropyridine459.7RYR1, QDPR, SCN4A, CACNA1C, CACNA1S
32mgatp459.7CHKB, RYR1, ABCC9
33chloride459.6CLCN1, RYR1, SLC12A3, SCN4A
34chlorine45 2410.5CLCN1, KCNE3, SLC12A3
35levcromakalim609.5KCNJ2, KCNJ12
36gliclazide45 50 1111.5INS, ABCC9
37nifedipine45 50 29 1112.5CACNA1S, CACNA1C, CACNA1D, RYR1, QDPR
38mg2+299.5KCNJ12, KCNJ2, RYR1
39p1075609.5KCNJ12, KCNJ2
40verapamil45 50 29 11 2413.5CACNA1C, CACNA1D, CACNA1S
41tacrolimus45 50 1111.5CHKB, INS, RYR1, QDPR
42tertiapin-q609.4KCNJ2, KCNJ12
43norepinephrine45 11 2411.4INS, RYR1, QDPR, CHKB
44glimepiride45 50 1111.2INS, ABCC9
45arginine459.0SCN4A, CHKB, INS, RYR1, KCNJ2, CACNA1S
46glibenclamide45 29 50 6011.8KCNJ12, INS, ABCC9, KCNJ2
47sodium45 249.7CACNA1D, SCN7A, CLCN1, SLC12A3, SCN4A, CACNA1S
48diazoxide45 60 29 1111.5ABCC9, KCNJ2, KCNJ12, SLC12A3, INS
49potassium45 11 249.9ABCC9, RYR1, CHKB, SCN4A, KCNJ2, KCNJ12
50calcium45 50 11 2410.6SCN7A, SCN4A, SLC12A3, KCNJ2, CHKB, CACNA1C

GO Terms for genes affiliated with Hypokalemic Periodic Paralysis

Sources:
16Gene Ontology
See all sources

Cellular components related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:03167410.0RYR1, CACNA1S
2voltage-gated calcium channel complexGO:0058919.6CACNA1S, CACNA1C, CACNA1D
3voltage-gated sodium channel complexGO:0015189.3SCN7A, SCN4A
4intrinsic to membraneGO:0312249.3KCNJ2, KCNJ12
5plasma membraneGO:0058866.7KCNJ18, KCNJ12, CACNA1S, CACNA1C, CACNA1D, CLCN1

Biological processes related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:08601210.0CACNA1D, KCNJ2
2potassium ion importGO:0101079.8KCNJ2, ABCC9
3regulation of heart rate by cardiac conductionGO:0860919.8CACNA1D, KCNJ2
4calcium ion transportGO:0068169.6CACNA1S, RYR1, CACNA1D
5sodium ion transportGO:0068149.5SCN7A, SCN4A, SLC12A3
6regulation of insulin secretionGO:0507969.4INS, CACNA1D, CACNA1C
7energy reserve metabolic processGO:0061129.2INS, CACNA1C, CACNA1D
8potassium ion transportGO:0068138.8KCNJ12, ABCC9, KCNJ2
9synaptic transmissionGO:0072688.2KCNJ12, KCNJ2, CACNA1C, ABCC9
10muscle contractionGO:0069368.2SCN4A, CLCN1, SCN7A, RYR1, CACNA1S, KCNJ12

Molecular functions related to Hypokalemic Periodic Paralysis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:0052489.6SCN4A, SCN7A
2high voltage-gated calcium channel activityGO:0083319.6CACNA1D, CACNA1S, CACNA1C
3alpha-actinin bindingGO:0513939.5CACNA1D, CACNA1C
4voltage-gated calcium channel activityGO:0052459.4CACNA1C, RYR1, CACNA1D, CACNA1S
5inward rectifier potassium channel activityGO:0052429.0KCNJ18, KCNJ12, KCNJ2

Products for genes affiliated with Hypokalemic Periodic Paralysis

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Sources for Hypokalemic Periodic Paralysis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet