MCID: HYP370
MIFTS: 49

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hypokalemic Periodic Paralysis, Type 1:

Name: Hypokalemic Periodic Paralysis, Type 1 51 12
Hypokalemic Periodic Paralysis 11 23 47 24 25 53 49 38 13 67
Hypopp 23 47 24 25 69
Hokpp 23 47 24 25 69
Westphall Disease 25 53 69
Familial Hypokalemic Periodic Paralysis 11 25
Hypokalemic Periodic Paralysis Type 1 24 67
Periodic Paralysis Hypokalemic 1 69 26
 
Periodic Hypokalemic Paralysis 11 26
Familial Periodic Paralysis 11 67
Hypokalemic Familial Periodic Paralysis 11
Primary Hypokalemic Periodic Paralysis 25
Periodic Paralysis I 11
Hypokpp 25
Hokpp1 69

Characteristics:

Orphanet epidemiological data:

53
hypokalemic periodic paralysis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

63
hypokalemic periodic paralysis, type 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance

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:



External Ids:

OMIM51 170400
Disease Ontology11 DOID:14452
ICD1029 G72.3
MeSH38 D020514
NCIt44 C84775
Orphanet53 ORPHA681
MESH via Orphanet39 D020514
UMLS via Orphanet68 C0238358
ICD10 via Orphanet30 G72.3

Summaries for Hypokalemic Periodic Paralysis, Type 1

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NIH Rare Diseases:47 Hypokalemic periodic paralysis (HOKPP) is a condition that causes 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 affected people. 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 resolve spontaneously, while treatment for moderate or severe attacks may involve ingesting oral potassium salts or intravenous potassium infusion. Last updated: 10/4/2016

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, hypokalemia 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 NCAM1 interactions and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Related mouse phenotypes are mortality/aging and behavior/neurological.

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.

OMIM:51 There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP,... (170400) more...

UniProtKB/Swiss-Prot:69 Periodic paralysis hypokalemic 1: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.

Wikipedia:70 Hypokalemic periodic paralysis (hypoKPP) is a rare, autosomal dominant channelopathy characterized by... more...

GeneReviews 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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1hypokalemic periodic paralysis, type 234.4KCNE3, SCN4A
2familial periodic paralysis12.3
3westphal disease12.0
4thyrotoxic periodic paralysis 111.7
5thyrotoxic periodic paralysis 211.7
6thyrotoxic periodic paralysis11.5
7hyperkalemic periodic paralysis, type 211.0
8familial periodic paralyses11.0
9neuropathy, hereditary sensory, type if10.5CACNA1S, KCNE3
10polyhydramnios, megalencephaly, and symptomatic epilepsy10.5KCNE3, SCN4A
11myasthenic syndrome, congenital, 1610.5KCNE3, SCN4A
12brugada syndrome 110.5CACNA1C, KCNE3
13tibial aplasia ectrodactyly hydrocephalus10.4CACNA1S, KCNJ2
14microcephaly-polymicrogyria-corpus callosum agenesis syndrome10.4CACNA1C, KCNJ2
15myotonic dystrophy 210.4CLCN1, SCN4A
16coccidiosis10.4CLCN1, SCN4A
17renal tubular acidosis10.3
18myelodysplastic myeloproliferative cancer10.3CLCN1, RYR1
19medium-chain acyl-coenzyme a dehydrogenase deficiency10.3CACNA1S, RYR1, SCN4A
20oligodontia-colorectal cancer syndrome10.3KCNE3, QDPR, SCN4A
21labyrinthine bilateral reactive loss10.2INS, SCN4A
22epilepsy, generalized, with febrile seizures plus, type 110.2CACNA1S, QDPR, RYR1
23graves' disease10.2
24hyperthyroidism10.2
25orofaciodigital syndrome10.2CLCN1, RYR1, SCN4A
26hypertelorism, preauricular sinus, punctal pits, and deafness10.1CACNA1S, INS, SCN4A
27myopathy10.1
28pituitary tumors10.1CACNA1S, KCNE3, KCNJ2, SCN4A
29central nervous system angiosarcoma10.0CACNA1S, INS
30neuronal migration disorders10.0CLCN1, SCN4A
31mucinous tubular and spindle renal cell carcinoma10.0ATP6V0A4, XK
32vallecula cancer10.0CACNA1S, QDPR, RYR1, SCN4A
33cataract 21, multiple types10.0ATP6V0A4, XK
34astrakhan spotted fever9.9ATP6V0A4, XK
35brugada syndrome 39.9CACNA1C, TRDN
36tricuspid valve disease9.8TRDN, XK
37cone dystrophy9.8CACNA1C, KCNJ2, TRDN
38cerebral cavernous malformation, familial9.7KCNJ2, RYR1, TRDN
39subvalvular aortic stenosis9.7ATP6V0A4, INS, XK
40stormorken syndrome9.7QDPR, RYR1, TRDN
41ciliary dyskinesia, primary, 9, with or without situs inversus9.6CACNA1S, KCNJ2, SCN4A, TRDN
42charcot-marie-tooth disease9.6
43tooth disease9.6
44hypokalemia9.6
45melancholia9.5CACNA1C, KCNE3, KCNJ2, TRDN
46unverricht-lundborg syndrome9.5CACNA1S, QDPR, RYR1, TRDN
47myotonia congenita, atypical, acetazolamide-responsive9.3CACNA1S, CLCN1, KCNE3, KCNJ2, SCN4A, XK
48prostate malignant phyllodes tumor9.3TRDN, XK
49monocular esotropia8.6ATP6V0A4, CACNA1S, CLCN1, KCNE3, KCNJ2, 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

Human phenotypes related to Hypokalemic Periodic Paralysis, Type 1:

 63 53 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy63 occasional (7.5%) HP:0003198
2 hypokalemia63 HP:0002900
3 episodic flaccid weakness63 53 Very frequent (99-80%) HP:0003752
4 periodic hyperkalemic paralysis63 HP:0007215
5 periodic hypokalemic paresis53 Obligate (100%)
6 episodic hypokalemia53 Obligate (100%)
7 emg abnormality53 Very frequent (99-80%)
8 paralysis53 Very frequent (99-80%)
9 abnormality of muscle fibers53 Very frequent (99-80%)
10 mildly elevated creatine phosphokinase53 Very frequent (99-80%)
11 increased intramyocellular lipid droplets53 Very frequent (99-80%)
12 exercise-induced muscle fatigue53 Frequent (79-30%)
13 postprandial hyperglycemia53 Frequent (79-30%)
14 late-onset proximal muscle weakness53 Occasional (29-5%)
15 respiratory paralysis53 Very rare (<4-1%)
16 adrenocortical adenoma53 Very rare (<4-1%)
17 fatigable weakness of respiratory muscles53 Very rare (<4-1%)
18 myotonia53 Excluded (0%)
19 impaired myocardial contractility53 Excluded (0%)

UMLS symptoms related to Hypokalemic Periodic Paralysis, Type 1:


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

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 3179
3HopsNutraceuticalPhase 334
4
BumetanideapprovedPhase 21628395-03-12471
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 (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 2174
6Natriuretic AgentsPhase 21645
7diureticsPhase 21372

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 Paralysis26 24 SCN4A
2 Hypokalemic Periodic Paralysis 126
3 Hypokalemic Periodic Paralysis Type 124 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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0ATP6V0A4, CACNA1C, CACNA1S, CLCN1, INS, KCNJ2
2MP:00053868.0ATP6V0A4, CACNA1C, CACNA1S, CLCN1, INS, RYR1
3MP:00053907.8ATP6V0A4, CACNA1S, CLCN1, INS, KCNJ2, QDPR
4MP:00053697.5CACNA1C, CACNA1S, CLCN1, INS, KCNJ2, RYR1
5MP:00053767.2ATP6V0A4, CACNA1C, CACNA1S, CLCN1, INS, KCNE3

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:

69
id Symbol AA change Variation ID SNP ID
1CACNA1Sp.Arg528HisVAR_001499rs80338777
2CACNA1Sp.Arg1239GlyVAR_001501rs28930069
3CACNA1Sp.Arg1239HisVAR_001502rs28930068
4CACNA1Sp.Arg528GlyVAR_054953rs80338778
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
1CACNA1SNM_000069.2(CACNA1S): c.2748C> G (p.His916Gln)SNVPathogenicrs2297902GRCh38Chr 1, 201065943: 201065943
2CACNA1SNM_000069.2(CACNA1S): c.3716G> A (p.Arg1239His)SNVPathogenicrs28930068GRCh37Chr 1, 201022666: 201022666
3CACNA1SNM_000069.2(CACNA1S): c.3715C> G (p.Arg1239Gly)SNVPathogenicrs28930069GRCh37Chr 1, 201022667: 201022667
4CACNA1SNM_000069.2(CACNA1S): c.1583G> A (p.Arg528His)SNVPathogenicrs80338777GRCh37Chr 1, 201047043: 201047043
5CACNA1SNM_000069.2(CACNA1S): c.2691G> T (p.Arg897Ser)SNVPathogenicrs80338779GRCh37Chr 1, 201035411: 201035411
6CACNA1SNM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu)SNVPathogenicrs267606698GRCh37Chr 1, 201036045: 201036045
7CACNA1SNM_000069.2(CACNA1S): c.3526-2A> GSNVPathogenicrs797045031GRCh37Chr 1, 201027621: 201027621
8CACNA1SNM_000069.2(CACNA1S): c.1582C> G (p.Arg528Gly)SNVPathogenicrs80338778GRCh37Chr 1, 201047044: 201047044
9SCN4ANM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys)SNVPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
10SCN4ANM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln)SNVPathogenicrs80338789GRCh37Chr 17, 62024451: 62024451
11SCN4ANM_000334.4(SCN4A): c.737C> T (p.Ser246Leu)SNVPathogenicrs80338951GRCh37Chr 17, 62045682: 62045682
12KCNJ2NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe)SNVPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341
13SCN4ANM_000334.4(SCN4A): c.2006G> A (p.Arg669His)SNVPathogenicrs80338784GRCh37Chr 17, 62036638: 62036638
14SCN4ANM_000334.4(SCN4A): c.2015G> A (p.Arg672His)SNVPathogenicrs80338788GRCh37Chr 17, 62036629: 62036629
15SCN4ANM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly)SNVPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
16SCN4ANM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser)SNVPathogenicrs80338785GRCh37Chr 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 13)
idSuper pathwaysScoreTop Affiliating Genes
19.9CACNA1C, CACNA1S
29.9CACNA1S, RYR1
39.6CACNA1C, CACNA1S, KCNJ2
49.6CACNA1C, CACNA1S, RYR1
59.6CACNA1C, CACNA1S, RYR1
69.6CACNA1C, CACNA1S, RYR1
7
Show member pathways
9.3CACNA1C, CACNA1S, KCNJ2, RYR1
8
Show member pathways
9.0CACNA1C, CACNA1S, INS, RYR1
9
Show member pathways
9.0CACNA1C, CACNA1S, CLCN1, INS
108.9CACNA1C, KCNE3, KCNE4, KCNJ2
118.7CACNA1C, CACNA1S, KCNE3, KCNE4, KCNJ2
12
Show member pathways
8.4ATP6V0A4, CLCN1, RYR1, TRDN
13
Show member pathways
7.3CACNA1C, CACNA1S, KCNE3, KCNE4, KCNJ2, RYR1

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:003167410.4CACNA1S, RYR1
2smooth endoplasmic reticulumGO:000579010.3KCNJ2, RYR1
3T-tubuleGO:003031510.2CACNA1S, KCNJ2, RYR1
4junctional sarcoplasmic reticulum membraneGO:001470110.0RYR1, TRDN
5junctional membrane complexGO:003031410.0RYR1, TRDN
6sarcoplasmic reticulumGO:00165299.8RYR1, TRDN
7sarcoplasmic reticulum membraneGO:00330179.8RYR1, TRDN
8voltage-gated calcium channel complexGO:00058919.7CACNA1C, CACNA1S, TRDN
9plasma membraneGO:00058866.8ATP6V0A4, CACNA1C, CACNA1S, CLCN1, KCNE3, KCNJ2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:008601010.4CACNA1S, SCN4A
2regulation of membrane repolarizationGO:006030610.4KCNE3, KCNJ2
3membrane depolarization during cardiac muscle cell action potentialGO:008601210.4CACNA1C, KCNJ2
4cardiac muscle cell action potential involved in contractionGO:008600210.4CACNA1C, KCNJ2
5cardiac conductionGO:006133710.1CACNA1C, CACNA1S, KCNJ2
6regulation of heart rate by cardiac conductionGO:00860919.9CACNA1C, KCNJ2
7release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.8RYR1, TRDN
8regulation of ion transmembrane transportGO:00347659.5CACNA1S, KCNE4, SCN4A
9potassium ion transmembrane transportGO:00718059.5KCNE3, KCNE4, KCNJ2
10skeletal muscle fiber developmentGO:00487419.5RYR1, XK
11ion transmembrane transportGO:00342208.4ATP6V0A4, CLCN1, RYR1, TRDN
12muscle contractionGO:00069368.1CACNA1S, CLCN1, RYR1, SCN4A, TRDN

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

idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:000833110.2CACNA1C, CACNA1S
2voltage-gated calcium channel activityGO:00052459.7CACNA1C, CACNA1S, RYR1
3ion channel bindingGO:00443258.7KCNE3, KCNE4, TRDN

Sources for Hypokalemic Periodic Paralysis, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet