MCID: HYP370
MIFTS: 48

Hypokalemic Periodic Paralysis, Type 1 malady

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

Aliases & Classifications for Hypokalemic Periodic Paralysis, Type 1

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Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 65UMLS, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 67UniProtKB/Swiss-Prot, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypokalemic Periodic Paralysis, Type 1:

Name: Hypokalemic Periodic Paralysis, Type 1 49 11
Hypokalemic Periodic Paralysis 10 21 45 22 23 47 12 51 36 65
Hypopp 21 45 22 23 67
Hokpp 21 45 22 23 67
Westphall Disease 23 51 67
Familial Hypokalemic Periodic Paralysis 10 23
Hypokalemic Periodic Paralysis Type 1 22 65
Periodic Paralysis Hypokalemic 1 67 24
 
Periodic Hypokalemic Paralysis 10 24
Familial Periodic Paralysis 10 65
Hypokalemic Familial Periodic Paralysis 10
Primary Hypokalemic Periodic Paralysis 23
Periodic Paralysis I 10
Hypokpp 23
Hokpp1 67

Characteristics:

Orphanet epidemiological data:

51
hypokalemic periodic paralysis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
hypokalemic periodic paralysis, type 1:
Onset and clinical course: incomplete penetrance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 170400
Disease Ontology10 DOID:14452
ICD1027 G72.3
MeSH36 D020514
NCIt42 C84775
Orphanet51 681
UMLS via Orphanet66 C0238358
ICD10 via Orphanet28 G72.3
MESH via Orphanet37 D020514
UMLS65 C0238358, C3714580

Summaries for Hypokalemic Periodic Paralysis, Type 1

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Genetics Home Reference:23 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 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 myopathy, periodic hyperkalemic paralysis and episodic flaccid weakness. An important gene associated with Hypokalemic Periodic Paralysis, Type 1 is CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S), and among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Renin secretion. Related mouse phenotypes are hearing/vestibular/ear and skeleton.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Periodic paralysis hypokalemic 1: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.

OMIM:49 There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP,... (170400) more...

Wikipedia:68 Hypokalemic periodic paralysis (hypoKPP) is a rare, autosomal dominant channelopathy characterized by... more...

GeneReviews summary for NBK1338

Related Diseases for Hypokalemic Periodic Paralysis, Type 1

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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 80)
idRelated DiseaseScoreTop Affiliating Genes
1hypokalemic periodic paralysis, type 234.8KCNE3, SCN4A
2familial periodic paralysis12.6
3westphal disease12.5
4thyrotoxic periodic paralysis 112.0
5thyrotoxic periodic paralysis 212.0
6thyrotoxic periodic paralysis11.7
7familial periodic paralyses11.5
8leukemia10.6
9hyperkalemic periodic paralysis, type 210.6
10breast cancer10.5
11endotheliitis10.5
12lymphoma10.5
13neuropathy, hereditary sensory, type if10.4CACNA1S, KCNE3
14myasthenic syndrome, congenital, 1610.4KCNE3, SCN4A
15hypertelorism, preauricular sinus, punctal pits, and deafness10.4KCNE3, SCN4A
16brugada syndrome 110.3CACNA1C, KCNE3
17pyoderma10.3CACNA1S, RYR1
18cavitary optic disc anomalies10.3
19hepatitis10.3
20liver disease10.3
21hepatic coma10.3
22myotonic dystrophy 210.3CLCN1, SCN4A
23mcleod neuroacanthocytosis syndrome10.3CACNA1S, RYR1, SCN4A
24rheumatoid arthritis10.2
25pancreatic cancer10.2
26arthritis10.2
27juvenile rheumatoid arthritis10.2
28immunoglobulin a vasculitis10.2CACNA1C, KCNJ2
29norse10.2SCN4A, SCN7A
30mantle cell lymphoma10.2
31pertussis10.2
32cystoisosporiasis10.2CACNA1S, CLCN1, SCN4A
33myasthenia gravis10.2CLCN1, RYR1
34minicore myopathy with external ophthalmoplegia10.2CACNA1S, QDPR, RYR1
35tibia absent polydactyly arachnoid cyst10.2CACNA1S, KCNJ2
36persistent vegetative state10.2CACNA1S, KCNE3, KCNJ2, SCN4A
37hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.2KCNJ2, SCN4A, TRDN
38multiple synostoses syndrome10.1CACNA1C, KCNJ2, TRDN
39myotonia congenita, atypical, acetazolamide-responsive10.1KCNE3, SCN4A, SCN7A
40caveolinopathies10.1KCNJ2, RYR1, TRDN
41pyoderma gangrenosum10.1CACNA1S, QDPR, RYR1, SCN4A
42brugada syndrome 310.1CACNA1C, TRDN
43hypokalemia10.1CACNA1S, CLCN1, RYR1, SCN4A
44tonsillar fossa cancer10.1CACNA1S, SCN4A
45neural tube defects10.0
46lung cancer10.0
47keratitis10.0
48gastric cancer10.0
49pemphigus vulgaris10.0
50pseudohypoaldosteronism10.0

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



Diseases related to hypokalemic periodic paralysis, type 1

Symptoms for Hypokalemic Periodic Paralysis, Type 1

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Symptoms by clinical synopsis from OMIM:

170400

Clinical features from OMIM:

170400

HPO human phenotypes related to Hypokalemic Periodic Paralysis, Type 1:

id Description Frequency HPO Source Accession
1 myopathy occasional (7.5%) HP:0003198
2 periodic hyperkalemic paralysis HP:0007215
3 episodic flaccid weakness HP:0003752
4 hypokalemia HP:0002900

Drugs & Therapeutics for Hypokalemic Periodic Paralysis, Type 1

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DichlorphenamideapprovedPhase 32120-97-83038
Synonyms:
1,3-Disulfamoyl-4,5-dichlorobenzene
1,3-Disulfamyl-4,5-dichlorobenzene
1,3-disulfamoyl-4,5-dichlorobenzene
120-97-8
2pou
3,4-Dichloro-5-sulfamylbenzenesulfonamide
4,5-DICHLOROBENZENE-1,3-disulfonamide
4,5-Dichloro-1,3-benzenedisulfonamide
4,5-Dichloro-1,3-disulfamoylbenzene
4,5-Dichloro-benzene-1,3-disulfonic acid diamide
4,5-Dichloro-m-benzenedisulfonamide
4,5-Dicholorobenzene-1,3-disulfonamide
4,5-dichloro-1,3-disulfamoylbenzene
4,5-dichloro-m-benzenedisulfonamide
4,5-dichlorobenzene-1,3-disulfonamide
AC1L1F18
Antidrasi
BPBio1_000745
BRD-K71499074-001-03-8
BRN 2703329
BSPBio_000677
Barastonin
C07459
C6H6Cl2N2O4S2
CAS-120-97-8
CB 8000
CHEBI:101085
CHEMBL17
CID3038
D004005
D00518
DB01144
DB07948
Daranide
Daranide (TN)
Dasanide
Dichlofenamide
Dichlorophenamide
Dichlorophenamide (DCP)
 
Dichlorphenamid
Dichlorphenamide
Dichlorphenamide (USP)
Dichlorphenamide [BAN]
Diclofenamid
Diclofenamida
Diclofenamida [INN-Spanish]
Diclofenamide
Diclofenamide (JP15/INN)
Diclofenamidum
Diclofenamidum [INN-Latin]
EINECS 204-440-6
FT-0084528
Glafco
Glajust
Glaucol
Glauconide
Glaumid
HMS1570B19
HSDB 3267
I7A
LS-30043
Llorens Brand of Dichlorphenamide
MLS002154010
Merck Brand of Dichlorphenamide
MolPort-004-285-635
NCGC00016371-01
NCGC00016371-02
Oratrol
Prestwick0_000809
Prestwick1_000809
Prestwick2_000809
Prestwick3_000809
Prestwick_1071
S2177_Selleck
SBB058142
SMR001233338
SPBio_002598
UNII-VVJ6673MHY
ZINC00896918
dichlorphenamide
2Carbonic Anhydrase InhibitorsPhase 3153
3HopsNutraceuticalPhase 331
4
BumetanideapprovedPhase 21528395-03-12471
Synonyms:
28395-03-1
3-(Aminosulfonyl)-5-(butylamino)-4-phenoxybenzoic acid
3-(Butylamino)-4-phenoxy-5-sulfamoylbenzoic acid
3-(aminosulfonyl)-5-(butylamino)-4-(phenyloxy)benzoic acid
3-Butylamino-4-(phenoxy)-5-sulfamoylbenzoic acid
3-Butylamino-4-phenoxy-5-sulfamoyl-benzoic acid
3-Butylamino-4-phenoxy-5-sulfamoylbenzoic acid
3-butylamino-4-(phenoxy)-5-sulfamoylbenzoic acid
AB00052253
AC-15228
AC1L1DR5
Aquazone
AstraZeneca Brand of Bumetanide
Atlantis Brand of Bumetanide
B 3023
B3023_SIGMA
BPBio1_000168
BRD-K38197229-001-06-7
BRN 2185351
BSPBio_000152
BSPBio_001508
BSPBio_003061
Bio1_000421
Bio1_000910
Bio1_001399
Bio2_000228
Bio2_000708
Bumedyl
Bumetanida
Bumetanida [INN-Spanish]
Bumetanide
Bumetanide (JP15/USP)
Bumetanide (JP15/USP/INN)
Bumetanide AstraZeneca Brand
Bumetanide Atlantis Brand
Bumetanide Farmacusi Brand
Bumetanide Grossmann Brand
Bumetanide Leo Brand
Bumetanide Roche Brand
Bumetanide Senosiain Brand
Bumetanide [USAN:BAN:INN:JAN]
Bumetanidum
Bumetanidum [INN-Latin]
Bumethanide
Bumex
Bumex (TN)
Bumex, Bumetanide
Burine
Burinex
Butinat
C17H20N2O5S
CAS-28395-03-1
CHEBI:3213
CHEMBL1072
CID2471
CPD000058418
Cambiex
D002034
D00247
DB00887
Diurama
DivK1c_000034
Drenural
EINECS 249-004-6
EU-0100162
Farmacusi Brand of Bumetanide
Fontego
Fordiuran
Grossmann Brand of Bumetanide
HMS1361L10
HMS1568H14
HMS1791L10
 
HMS1921B20
HMS1989L10
HMS2089P13
HMS2092N03
HMS500B16
I06-2277
IDI1_000034
IDI1_033978
KBio1_000034
KBio2_000228
KBio2_001797
KBio2_002796
KBio2_004365
KBio2_005364
KBio2_006933
KBio3_000455
KBio3_000456
KBio3_002561
KBioGR_000228
KBioGR_000439
KBioSS_000228
KBioSS_001797
LS-36330
Leo Brand of Bumetanide
Lixil
Lixil-Leo
Lopac-B-3023
Lopac0_000162
Lunetoron
MLS000028457
MLS001148265
Miccil
MolPort-003-666-390
NCGC00015149-01
NCGC00015149-02
NCGC00015149-03
NCGC00015149-06
NCGC00015149-12
NCGC00022072-03
NCGC00022072-04
NCGC00022072-05
NCGC00022072-06
NCGC00022072-07
NCGC00022072-08
NINDS_000034
PF 1593
PF-1593
PF1593
Prestwick0_000276
Prestwick1_000276
Prestwick2_000276
Prestwick3_000276
Prestwick_679
Ro 10-6338
Ro-10-6338
Roche Brand of Bumetanide
S1287_Selleck
SAM002564195
SMP1_000049
SMR000058418
SPBio_000980
SPBio_002371
SPECTRUM1502004
ST51014910
Segurex
Senosiain Brand of Bumetanide
Spectrum2_001050
Spectrum3_001481
Spectrum4_000030
Spectrum5_001212
Spectrum_001317
UNII-0Y2S3XUQ5H
Yurinex
bumetanide
5Sodium Potassium Chloride Symporter InhibitorsPhase 2130
6Natriuretic AgentsPhase 21403
7diureticsPhase 21194

Interventional clinical trials:

idNameStatusNCT IDPhase
1Hyper- and Hypokalemic Periodic Paralysis StudyCompletedNCT00494507Phase 3
2Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel DisordersCompletedNCT00004802Phase 3
3Bumetanide in Hypokalaemic Periodic ParalysisRecruitingNCT02582476Phase 2

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

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Genetic tests related to Hypokalemic Periodic Paralysis, Type 1:

id Genetic test Affiliating Genes
1 Hypokalemic Periodic Paralysis22 SCN4A
2 Hypokalemic Periodic Paralysis Type 122 CACNA1S

Anatomical Context for Hypokalemic Periodic Paralysis, Type 1

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Animal Models for Hypokalemic Periodic Paralysis, Type 1 or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3ATP6V0A4, CACNB4, CLCN1, KCNE3, SCN4A, SCN8A
2MP:00053908.2ATP6V0A4, CACNA1S, CLCN1, KCNJ2, QDPR, RYR1
3MP:00053697.5CACNA1C, CACNA1S, CACNB4, CLCN1, KCNJ2, RYR1
4MP:00053867.5ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, RYR1
5MP:00053787.4ATP6V0A4, CACNA1S, CACNB4, CLCN1, KCNJ2, RYR1
6MP:00107686.4ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, KCNJ2

Publications for Hypokalemic Periodic Paralysis, Type 1

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Variations for Hypokalemic Periodic Paralysis, Type 1

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

67
id Symbol AA change Variation ID SNP ID
1CACNA1Sp.Arg528HisVAR_001499
2CACNA1Sp.Arg1239GlyVAR_001501rs28930069
3CACNA1Sp.Arg1239HisVAR_001502rs28930068
4CACNA1Sp.Arg528GlyVAR_054953
5CACNA1Sp.Arg900SerVAR_054954

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

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1CACNA1SHis916Glnundetermined variantPathogenic
2CACNA1SNM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His)single nucleotide variantPathogenicrs28930068GRCh37Chr 1, 201022666: 201022666
3CACNA1SNM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly)single nucleotide variantPathogenicrs28930069GRCh37Chr 1, 201022667: 201022667
4CACNA1SNM_000069.2(CACNA1S): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs80338777GRCh37Chr 1, 201047043: 201047043
5CACNA1SNM_000069.2(CACNA1S): c.2691G> T (p.Arg897Ser)single nucleotide variantPathogenicrs80338779GRCh37Chr 1, 201035411: 201035411
6CACNA1SNM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu)single nucleotide variantPathogenicrs267606698GRCh37Chr 1, 201036045: 201036045
7CACNA1SNM_000069.2(CACNA1S): c.3526-2A> Gsingle nucleotide variantPathogenicrs797045031GRCh38Chr 1, 201058493: 201058493
8CACNA1SNM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly)single nucleotide variantPathogenicrs80338778GRCh37Chr 1, 201047044: 201047044
9SCN4ANM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
10SCN4ANM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln)single nucleotide variantPathogenicrs80338789GRCh37Chr 17, 62024451: 62024451
11SCN4ANM_000334.4(SCN4A): c.737C> T (p.Ser246Leu)single nucleotide variantPathogenicrs80338951GRCh37Chr 17, 62045682: 62045682
12KCNJ2NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341
13SCN4ANM_000334.4(SCN4A): c.2006G> A (p.Arg669His)single nucleotide variantPathogenicrs80338784GRCh37Chr 17, 62036638: 62036638
14SCN4ANM_000334.4(SCN4A): c.2015G> A (p.Arg672His)single nucleotide variantPathogenicrs80338788GRCh37Chr 17, 62036629: 62036629
15SCN4ANM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
16SCN4ANM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630

Expression for genes affiliated with Hypokalemic Periodic Paralysis, Type 1

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

Pathways for genes affiliated with Hypokalemic Periodic Paralysis, Type 1

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

(show all 26)
idSuper pathwaysScoreTop Affiliating Genes
19.9CACNA1S, RYR1
29.7CACNA1C, CACNA1S, KCNJ2
39.7CACNA1C, CACNA1S, RYR1
4
Show member pathways
9.6CACNA1C, CACNA1S, CLCN1
5
Show member pathways
9.3CACNA1C, CACNA1S, CACNB4
69.3CACNA1C, CACNA1S, CACNB4
7
Show member pathways
9.3CACNA1C, CACNA1S, CACNB4
89.3CACNA1C, CACNA1S, CACNB4
99.3CACNA1C, KCNE3, KCNE4, KCNJ2
10
Show member pathways
9.2SCN4A, SCN7A, SCN8A
119.2SCN4A, SCN7A, SCN8A
12
Show member pathways
9.0CACNA1C, CACNA1S, CACNB4, RYR1
139.0CACNA1C, CACNA1S, CACNB4, RYR1
149.0CACNA1C, CACNA1S, CACNB4, RYR1
15
Show member pathways
9.0ATP6V0A4, CLCN1, RYR1, TRDN
16
Show member pathways
8.8CACNA1C, CACNA1S, CACNB4, SCN7A
17
Show member pathways
8.8CLCN1, SCN4A, SCN7A, SCN8A
18
Show member pathways
8.8CACNA1C, CACNA1S, CACNB4, KCNJ2, RYR1
19
Show member pathways
8.6CACNA1C, CACNA1S, KCNJ2, KCNQ5, RYR1
208.5CACNA1C, CACNA1S, CACNB4, KCNQ5
21
Show member pathways
8.1CACNA1C, CACNA1S, CACNB4, SCN4A, SCN7A, SCN8A
22
Show member pathways
8.1CACNA1C, CACNA1S, CACNB4, SCN4A, SCN7A, SCN8A
237.6CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, KCNJ2
24
Show member pathways
7.4CACNA1C, CACNA1S, CACNB4, CLCN1, RYR1, SCN4A
25
Show member pathways
7.4CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, SCN4A
26
Show member pathways
6.4CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, KCNJ2

GO Terms for genes affiliated with Hypokalemic Periodic Paralysis, Type 1

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

idNameGO IDScoreTop Affiliating Genes
1I bandGO:003167410.2CACNA1S, RYR1
2membraneGO:00160207.8CACNA1S, CLCN1, RYR1, SCN4A, SCN7A, SCN8A

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during cardiac muscle cell action potentialGO:008601210.5CACNA1C, KCNJ2
2regulation of postsynaptic membrane potentialGO:006007810.2SCN4A, SCN7A
3release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.1RYR1, TRDN
4cardiac conductionGO:00613379.8CACNA1C, CACNB4
5calcium ion transmembrane transportGO:00705889.7CACNA1C, CACNA1S, RYR1
6neuronal action potentialGO:00192289.7SCN4A, SCN7A, SCN8A
7calcium ion transportGO:00068169.6CACNA1S, CACNB4, RYR1
8membrane depolarization during action potentialGO:00860109.4SCN4A, SCN7A, SCN8A
9ion transportGO:00068119.1CACNA1C, KCNQ5, SCN4A
10muscle contractionGO:00069369.0CACNA1S, RYR1, SCN4A, SCN7A, TRDN
11transmembrane transportGO:00550857.9ATP6V0A4, CACNA1C, CACNA1S, RYR1, SCN4A, SCN7A

Sources for Hypokalemic Periodic Paralysis, Type 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet