MCID: HYP370
MIFTS: 48

Hypokalemic Periodic Paralysis, Type 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic diseases categories

Aliases & Classifications for Hypokalemic Periodic Paralysis, Type 1

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

Aliases & Descriptions for Hypokalemic Periodic Paralysis, Type 1:

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


Classifications:



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


External Ids:

OMIM49 170400
Disease Ontology10 DOID:14452, DOID:1029
Orphanet51 681
ICD10 via Orphanet28 G72.3
MESH via Orphanet37 D020514
UMLS via Orphanet66 C0238358

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 myasthenia gravis and renal tubular acidosis, and has symptoms including myopathy, autosomal dominant inheritance and hypokalemia. An important gene associated with Hypokalemic Periodic Paralysis, Type 1 is CACNA1S (Calcium Channel, Voltage-Dependent, L Type, Alpha 1S Subunit), and among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Renin secretion. Related mouse phenotypes are skeleton and hearing/vestibular/ear.

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

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

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.

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

GeneReviews summary for hpp

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 72)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenia gravis30.5CLCN1, RYR1
2renal tubular acidosis10.8
3hypokalemic periodic paralysis, type 210.7
4hyperthyroidism10.6
5myopathy10.6
6graves' disease10.6
7hypokalemia10.6
8thyrotoxic periodic paralysis 110.5
9malignant hyperthermia10.5
10thyroiditis10.5
11thyrotoxic periodic paralysis10.5
12thyrotoxic periodic paralysis 210.4
13muscle disorders10.4
14sjogren's syndrome10.4
15hypophosphatemia10.4
16adenoma10.4
17westphal disease10.4
18wolff-parkinson-white syndrome10.3
19hyperkalemic periodic paralysis, type 210.3
20amelogenesis imperfecta10.3
21glomerulonephritis10.3
22hepatitis10.3
23superior mesenteric artery syndrome10.3
24membranoproliferative glomerulonephritis10.3
25hyperuricemia10.3
26gynecomastia10.3
27tropical sprue10.3
28diabetes insipidus10.3
29hyperaldosteronism10.3
30idiopathic generalized epilepsy10.3
31influenza10.3
32metal metabolism disorder10.3
33nervous system disease10.3
34neuromuscular disease10.3
35pituitary adenoma10.3
36respiratory failure10.3
37neurologic diseases10.3
38bidirectional tachycardia10.3
39growth hormone deficiency10.3
40thymic hyperplasia10.3
41familial periodic paralyses10.3
42periodic paralyses10.3
43proximal renal tubular acidosis10.3
44polyhydramnios, megalencephaly, and symptomatic epilepsy10.2QDPR, SCN4A
45brugada syndrome 610.2CACNA1S, KCNE3, SCN4A
46brugada syndrome 110.2CACNA1C, KCNE3
47mcleod neuroacanthocytosis syndrome10.2CACNA1S, RYR1, SCN4A
48myotonia congenita, dominant10.2CACNA1S, CLCN1, SCN4A
49tibia absent polydactyly arachnoid cyst10.2CACNA1S, GABRA3, KCNJ2
50minicore myopathy with external ophthalmoplegia10.2CACNA1S, QDPR, RYR1

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:

(show all 6)
id Description Frequency HPO Source Accession
1 myopathy occasional (7.5%) HP:0003198
2 autosomal dominant inheritance HP:0000006
3 hypokalemia HP:0002900
4 episodic flaccid weakness HP:0003752
5 incomplete penetrance HP:0003829
6 periodic hyperkalemic paralysis HP:0007215

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):

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
2
Lamotrigineapproved, investigationalPhase 317484057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
3Calcium, DietaryPhase 33529
4HopsNutraceuticalPhase 330
5
BumetanideapprovedPhase 21328395-03-12471
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

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
3Lamotrigine as Treatment of MyotoniaEnrolling by invitationNCT01939561Phase 3
4Bumetanide 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 24 SCN4A
2 Hypokalemic Periodic Paralysis Type 122 CACNA1S
3 Hypokalemic Periodic Paralysis 124

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:00053908.9ATP6V0A4, CACNA1S, CLCN1, KCNJ2, QDPR, RYR1
2MP:00053778.8ATP6V0A4, CACNB4, CLCN1, KCNA1, SCN8A
3MP:00053697.6CACNA1C, CACNA1S, CACNB4, CLCN1, KCNA1, KCNJ2
4MP:00053766.6ATP6V0A4, CACNA1C, CACNA1S, CLCN1, GABRA3, KCNA1
5MP:00036316.6CACNA1C, CACNA1S, CACNB4, CLCN1, GABRA3, KCNA1
6MP:00107686.4ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, KCNA1
7MP:00053786.2ATP6V0A4, CACNA1S, CACNB4, CLCN1, KCNA1, KCNJ12
8MP:00053865.5ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, GABRA3

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 20)
id Gene Variation Type Significance SNP ID Assembly Location
1CACNA1SHis916Glnundetermined variantPathogenic
2SCN4ANM_000334.4(SCN4A): c.664C> T (p.Arg222Trp)single nucleotide variantPathogenicrs527236148GRCh37Chr 17, 62048561: 62048561
3SCN4ANM_000334.4(SCN4A): c.3386G> A (p.Arg1129Gln)single nucleotide variantPathogenicrs527236149GRCh37Chr 17, 62024460: 62024460
4SCN4ANM_000334.4(SCN4A): c.3404G> A (p.Arg1135His)single nucleotide variantPathogenicrs527236150GRCh37Chr 17, 62024442: 62024442
5CACNA1SNM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His)single nucleotide variantPathogenicrs28930068GRCh37Chr 1, 201022666: 201022666
6CACNA1SNM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly)single nucleotide variantPathogenicrs28930069GRCh37Chr 1, 201022667: 201022667
7CACNA1SNM_000069.2(CACNA1S): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs80338777GRCh37Chr 1, 201047043: 201047043
8CACNA1SNM_000069.2(CACNA1S): c.2691G> T (p.Arg897Ser)single nucleotide variantPathogenicrs80338779GRCh37Chr 1, 201035411: 201035411
9CACNA1SNM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu)single nucleotide variantPathogenicrs267606698GRCh37Chr 1, 201036045: 201036045
10CACNA1SNM_000069.2(CACNA1S): c.3526-2A> Gsingle nucleotide variantPathogenicrs797045031GRCh37Chr 1, 201027621: 201027621
11CACNA1SNM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly)single nucleotide variantPathogenicrs80338778GRCh37Chr 1, 201047044: 201047044
12SCN4ANM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
13SCN4ANM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln)single nucleotide variantPathogenicrs80338789GRCh37Chr 17, 62024451: 62024451
14SCN4ANM_000334.4(SCN4A): c.737C> T (p.Ser246Leu)single nucleotide variantPathogenicrs80338951GRCh37Chr 17, 62045682: 62045682
15KCNJ2NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341
16SCN4ANM_000334.4(SCN4A): c.2006G> A (p.Arg669His)single nucleotide variantPathogenicrs80338784GRCh37Chr 17, 62036638: 62036638
17SCN4ANM_000334.4(SCN4A): c.2015G> A (p.Arg672His)single nucleotide variantPathogenicrs80338788GRCh37Chr 17, 62036629: 62036629
18SCN4ANM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
19SCN4ANM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
20SCN4ANM_000334.4(SCN4A): c.3472C> T (p.Pro1158Ser)single nucleotide variantPathogenicrs121908555GRCh37Chr 17, 62022968: 62022968

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 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CACNA1S, RYR1
29.8CACNA1C, CACNA1S, KCNJ2
3
Show member pathways
9.7CACNA1C, CACNA1S, CLCN1
49.5CACNA1C, CACNA1S, CACNB4
59.5CACNA1C, CACNA1S, CACNB4
6
Show member pathways
9.5CACNA1C, CACNA1S, CACNB4
79.4CACNA1C, KCNE3, KCNE4, KCNJ2
89.3CACNA1C, CACNA1S, CACNB4, RYR1
99.3CACNA1C, CACNA1S, CACNB4, RYR1
10
Show member pathways
9.2GABRA3, KCNJ12, KCNJ2
11
Show member pathways
9.0ATP6V0A4, CLCN1, GABRA3, RYR1, TRDN
12
Show member pathways
8.9CACNA1C, CACNA1S, CACNB4, SCN4A, SCN8A
138.9CACNA1C, CACNA1S, CACNB4, KCNQ5
14
Show member pathways
8.2CACNA1C, CACNA1S, CACNB4, KCNJ12, KCNJ2, RYR1
15
Show member pathways
7.8KCNA1, KCNJ12, KCNJ2, KCNN2, KCNQ5
16
Show member pathways
7.3CACNA1C, CACNA1S, GABRA3, KCNJ12, KCNJ2, KCNN2
17
Show member pathways
7.0CACNB4, GABRA3, KCNA1, KCNJ12, KCNJ2, KCNN2
186.8CACNA1C, CACNA1S, CACNB4, KCNA1, KCNE3, KCNE4

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:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1I bandGO:003167410.6CACNA1S, RYR1
2voltage-gated sodium channel complexGO:000151810.6SCN4A, SCN8A
3junctional sarcoplasmic reticulum membraneGO:001470110.5RYR1, TRDN
4junctional membrane complexGO:003031410.5RYR1, TRDN
5sarcoplasmic reticulumGO:001652910.3CACNA1S, RYR1, TRDN
6intrinsic component of membraneGO:003122410.1KCNJ12, KCNJ2
7smooth endoplasmic reticulumGO:000579010.0KCNJ2, KCNN2, RYR1
8voltage-gated calcium channel complexGO:00058919.7CACNA1C, CACNA1S, CACNB4, TRDN
9T-tubuleGO:00303159.7CACNA1C, CACNA1S, KCNJ2, KCNN2, RYR1
10dendriteGO:00304259.4CACNA1C, KCNA1, KCNE3, KCNJ2, SCN8A
11sarcolemmaGO:00423839.4CACNA1C, CLCN1, KCNN2
12voltage-gated potassium channel complexGO:00080769.3KCNA1, KCNE3, KCNJ2, KCNQ5
13Z discGO:00300189.0CACNA1C, KCNN2, SCN8A
14neuronal cell bodyGO:00430258.9CACNA1C, KCNA1, KCNJ2, KCNN2, SCN8A
15integral component of plasma membraneGO:00058878.3CLCN1, GABRA3, KCNA1, KCNJ12, KCNJ2, RYR1
16membraneGO:00160206.6CACNA1C, CACNA1S, CLCN1, GABRA3, KCNA1, KCNE3
17integral component of membraneGO:00160216.3ATP6V0A4, CACNA1C, GABRA3, KCNE4, KCNJ12, KCNJ2
18plasma membraneGO:00058864.6ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, GABRA3

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:004874110.6CACNA1S, RYR1
2regulation of membrane repolarizationGO:006030610.6KCNE3, KCNJ2
3calcium ion importGO:007050910.5CACNA1C, CACNA1S
4release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.4RYR1, TRDN
5gamma-aminobutyric acid signaling pathwayGO:000721410.4CACNB4, GABRA3
6neuromuscular processGO:005090510.2KCNA1, SCN8A
7membrane depolarization during action potentialGO:00860109.9CACNA1C, CACNA1S, SCN4A, SCN8A
8neuronal action potentialGO:00192289.9KCNA1, SCN4A, SCN8A
9neuronal action potential propagationGO:00192279.8CACNB4, CLCN1
10adult walking behaviorGO:00076289.6CACNA1C, CACNB4, SCN8A
11calcium ion transportGO:00068169.5CACNA1C, CACNA1S, CACNB4, RYR1
12regulation of potassium ion transmembrane transportGO:19013799.4KCNE3, KCNN2
13cellular calcium ion homeostasisGO:00068749.3CACNA1C, CACNB4, RYR1, TRDN
14calcium ion transmembrane transportGO:00705889.3CACNA1C, CACNA1S, CACNB4, RYR1
15regulation of membrane potentialGO:00423919.2CACNB4, GABRA3, KCNA1
16ion transmembrane transportGO:00342208.9ATP6V0A4, CACNA1C, CACNA1S, CLCN1, GABRA3, RYR1
17potassium ion transmembrane transportGO:00718058.7KCNA1, KCNE3, KCNE4, KCNJ2, KCNN2, KCNQ5
18muscle contractionGO:00069368.6CACNA1S, CLCN1, KCNJ12, RYR1, SCN4A, TRDN
19potassium ion transportGO:00068138.4KCNA1, KCNJ12, KCNJ2, KCNN2, KCNQ5
20regulation of ion transmembrane transportGO:00347657.6CACNA1C, CACNA1S, KCNA1, KCNE4, KCNJ12, KCNQ5
21ion transportGO:00068117.0CACNA1C, CACNA1S, GABRA3, KCNA1, KCNE3, KCNE4
22transmembrane transportGO:00550857.0ATP6V0A4, CACNA1C, CACNA1S, CLCN1, GABRA3, KCNA1
23synaptic transmissionGO:00072686.7CACNA1C, CACNB4, GABRA3, KCNA1, KCNJ12, KCNJ2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:000524810.3SCN4A, SCN8A
2alpha-actinin bindingGO:005139310.1CACNA1C, KCNN2
3high voltage-gated calcium channel activityGO:00083319.5CACNA1C, CACNA1S, CACNB4
4voltage-gated potassium channel activityGO:00052499.3KCNA1, KCNE3, KCNE4, KCNQ5
5inward rectifier potassium channel activityGO:00052429.3KCNJ12, KCNJ2, KCNQ5
6voltage-gated calcium channel activityGO:00052459.2CACNA1C, CACNA1S, CACNB4, RYR1
7ion channel activityGO:00052167.3CACNA1C, CACNA1S, CLCN1, KCNA1, KCNN2, KCNQ5

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