HOKPP1
MCID: HYP370
MIFTS: 51

Hypokalemic Periodic Paralysis, Type 1 (HOKPP1) malady

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

Aliases & Classifications for Hypokalemic Periodic Paralysis, Type 1

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hypokalemic Periodic Paralysis, Type 1:

Name: Hypokalemic Periodic Paralysis, Type 1 52 12
Hypokalemic Periodic Paralysis 11 23 48 24 25 54 50 39 13 68
Hypopp 23 48 24 25 70
Hokpp 23 48 24 25 70
Westphall Disease 25 54 70
Familial Hypokalemic Periodic Paralysis 11 25
Hypokalemic Periodic Paralysis Type 1 24 68
Periodic Paralysis Hypokalemic 1 70 27
 
Periodic Hypokalemic Paralysis 11 27
Familial Periodic Paralysis 11 68
Hypokalemic Familial Periodic Paralysis 11
Primary Hypokalemic Periodic Paralysis 25
Periodic Paralysis I 11
Hypokpp 25
Hokpp1 70

Characteristics:

Orphanet epidemiological data:

54
hypokalemic periodic paralysis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
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:

OMIM52 170400
Disease Ontology11 DOID:14452
ICD1030 G72.3
MeSH39 D020514
NCIt45 C84775
Orphanet54 ORPHA681
MESH via Orphanet40 D020514
UMLS via Orphanet69 C0238358
ICD10 via Orphanet31 G72.3

Summaries for Hypokalemic Periodic Paralysis, Type 1

About this section
NIH Rare Diseases:48 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 muscle cramp, muscle rigidity and muscle spasticity. 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 digestive/alimentary.

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

UniProtKB/Swiss-Prot:70 Periodic paralysis hypokalemic 1: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.

Wikipedia:71 Hypokalemic periodic paralysis (hypoKPP) is a rare, autosomal dominant channelopathy characterized by... more...

GeneReviews for NBK1338

Related Diseases for Hypokalemic Periodic Paralysis, Type 1

About this section

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 48)
idRelated DiseaseScoreTop Affiliating Genes
1hypokalemic periodic paralysis, type 212.4
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
9renal tubular acidosis10.3
10chromosome 3q13.31 deletion syndrome10.3CLCN1, SCN4A
11primary pulmonary lymphoma10.3CACNA1S, RYR1
12heart block, progressive, type ia10.2CACNA1C, KCNE3
13oligodontia-colorectal cancer syndrome10.2QDPR, SCN4A
14paresthesia10.2CLCN1, SCN4A
15multiminicore disease10.2CACNA1S, RYR1, SCN4A
16isolated encephalocele10.2CACNA1C, KCNJ2
17glaucoma 1, open angle, p10.2CACNA1S, QDPR, RYR1
18graves' disease10.2
19hyperthyroidism10.2
20premature ovarian failure 510.2CLCN1, RYR1, SCN4A
21keppen-lubinsky syndrome10.2CACNA1C, KCNJ2
22b cell deficiency10.1CLCN1, RYR1, SCN4A
23epilepsy, generalized, with febrile seizures plus, type 110.1CACNA1S, QDPR, RYR1
24pediatric angiosarcoma10.1CLCN1, RYR1, SCN4A
25hypothyroidism, congenital, nongoitrous, 110.1CACNA1S, INS, SCN4A
26hyperthyroxinemia10.1CACNA1C, KCNE3, KCNJ2
27repetitive motion disorders10.1CACNA1S, KCNE3, KCNJ2, SCN4A
28myopathy10.1
29retinal cone dystrophy 410.1CACNA1C, TRDN
30antley-bixler syndrome10.1CACNA1C, KCNE3, SCN4A
31cerebral creatine deficiency syndrome10.1CACNA1C, KCNJ2, TRDN
32soft palate cancer10.1CACNA1S, QDPR, RYR1, SCN4A
33autosomal dominant nocturnal frontal lobe epilepsy 210.0KCNJ2, RYR1, TRDN
34segawa syndrome, recessive10.0QDPR, RYR1, TRDN
35ciliary dyskinesia, primary, 9, with or without situs inversus10.0CACNA1S, KCNJ2, SCN4A, TRDN
36partial sensory epilepsy10.0ATP6V0A4, BRD4
37ectopic cushing syndrome9.9ATP6V0A4, BRD4
38rheumatic heart disease9.9TRDN, XK
39wolff-parkinson-white syndrome9.9
40photoparoxysmal response 39.8INS, XK
41myotonia congenita, atypical, acetazolamide-responsive9.7CACNA1S, CLCN1, KCNE3, KCNJ2, SCN4A, XK
42charcot-marie-tooth disease9.6
43tooth disease9.6
44hypokalemia9.6
45waardenburg's syndrome9.6
46atrial fibrillation, familial, 39.6CACNA1C, KCNE3, KCNE4, KCNJ2, TRDN, XK
47raynaud disease9.4ATP6V0A4, CACNA1S, CLCN1, KCNE3, KCNJ2, QDPR
48malignant hyperthermia susceptibility 58.2ATP6V0A4, BRD4, CACNA1C, CACNA1S, CACNB4, CLCN1

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

About this section

Symptoms by clinical synopsis from OMIM:

170400

Clinical features from OMIM:

170400

Human phenotypes related to Hypokalemic Periodic Paralysis, Type 1:

 54 64 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periodic hypokalemic paresis64 54 Obligate (100%) HP:0008153
2 episodic hypokalemia64 54 Obligate (100%) HP:0012726
3 emg abnormality64 54 Very frequent (99-80%) HP:0003457
4 paralysis54 Very frequent (99-80%)
5 episodic flaccid weakness64 54 Very frequent (99-80%) HP:0003752
6 abnormality of muscle fibers54 Very frequent (99-80%)
7 mildly elevated creatine phosphokinase64 54 Very frequent (99-80%) HP:0008180
8 increased intramyocellular lipid droplets64 54 Very frequent (99-80%) HP:0012240
9 exercise-induced muscle fatigue64 54 Frequent (79-30%) HP:0009020
10 postprandial hyperglycemia64 54 Frequent (79-30%) HP:0011998
11 late-onset proximal muscle weakness64 54 Occasional (29-5%) HP:0003694
12 respiratory paralysis64 54 Very rare (<4-1%) HP:0002203
13 adrenocortical adenoma64 54 Very rare (<4-1%) HP:0008256
14 fatigable weakness of respiratory muscles64 54 Very rare (<4-1%) HP:0030196
15 myotonia54 Excluded (0%)
16 impaired myocardial contractility54 Excluded (0%)
17 hypokalemia64 HP:0002900
18 myopathy64 HP:0003198
19 periodic hyperkalemic paralysis64 HP:0007215

UMLS symptoms related to Hypokalemic Periodic Paralysis, Type 1:


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

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6ATP6V0A4, CACNB4, CLCN1, KCNE3, SCN4A
2MP:00053819.3CACNA1S, CACNB4, INS, KCNE3, KCNJ2, RYR1
3MP:00053908.2ATP6V0A4, CACNA1S, CLCN1, INS, KCNJ2, QDPR
4MP:00053788.1ATP6V0A4, CACNA1S, CACNB4, CLCN1, INS, KCNJ2
5MP:00053868.1ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, INS
6MP:00107687.9ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, INS
7MP:00053767.6ATP6V0A4, CACNA1C, CACNA1S, CLCN1, INS, KCNE3
8MP:00053697.4CACNA1C, CACNA1S, CACNB4, CLCN1, INS, KCNJ2

Drugs & Therapeutics for Hypokalemic Periodic Paralysis, Type 1

About this section

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 3186
3HopsNutraceuticalPhase 339
4
BumetanideapprovedPhase 21728395-03-12471
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 2181
6Natriuretic AgentsPhase 21697
7diureticsPhase 21418

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 ParalysisActive, not recruitingNCT02582476Phase 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

About this section

Genetic tests related to Hypokalemic Periodic Paralysis, Type 1:

id Genetic test Affiliating Genes
1 Hypokalemic Periodic Paralysis27 24 SCN4A
2 Hypokalemic Periodic Paralysis 127
3 Hypokalemic Periodic Paralysis Type 124 CACNA1S

Anatomical Context for Hypokalemic Periodic Paralysis, Type 1

About this section

Publications for Hypokalemic Periodic Paralysis, Type 1

About this section

Variations for Hypokalemic Periodic Paralysis, Type 1

About this section

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

70
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 14)
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.2627T> A (p.Val876Glu)SNVPathogenicrs267606698GRCh37Chr 1, 201036045: 201036045
6CACNA1SNM_ 000069.2(CACNA1S): c.3526-2A> GSNVPathogenicrs797045031GRCh38Chr 1, 201058493: 201058493
7CACNA1SNM_ 000069.2(CACNA1S): c.1582C> G (p.Arg528Gly)SNVPathogenicrs80338778GRCh37Chr 1, 201047044: 201047044
8SCN4ANM_ 000334.4(SCN4A): c.2014C> T (p.Arg672Cys)SNVPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
9SCN4ANM_ 000334.4(SCN4A): c.3395G> A (p.Arg1132Gln)SNVPathogenicrs80338789GRCh37Chr 17, 62024451: 62024451
10KCNJ2NM_ 000891.2(KCNJ2): c.161G> T (p.Cys54Phe)SNVPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341
11SCN4ANM_ 000334.4(SCN4A): c.2006G> A (p.Arg669His)SNVPathogenicrs80338784GRCh37Chr 17, 62036638: 62036638
12SCN4ANM_ 000334.4(SCN4A): c.2015G> A (p.Arg672His)SNVPathogenicrs80338788GRCh37Chr 17, 62036629: 62036629
13SCN4ANM_ 000334.4(SCN4A): c.2014C> G (p.Arg672Gly)SNVPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
14SCN4ANM_ 000334.4(SCN4A): c.2014C> A (p.Arg672Ser)SNVPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630

Expression for genes affiliated with Hypokalemic Periodic Paralysis, Type 1

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

Pathways for genes affiliated with Hypokalemic Periodic Paralysis, Type 1

About this section

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

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
19.9CACNA1S, RYR1
29.7CACNA1C, CACNA1S, KCNJ2
3
Show member pathways
9.7CACNA1C, CACNA1S, RYR1
49.4CACNA1C, CACNA1S, CACNB4
5
Show member pathways
9.4CACNA1C, CACNA1S, CACNB4
6
Show member pathways
9.4CACNA1C, CACNA1S, CACNB4
79.4CACNA1C, CACNA1S, CACNB4
89.4CACNA1C, CACNA1S, CACNB4
9
Show member pathways
9.4CACNA1C, CACNA1S, KCNJ2, RYR1
109.3CACNA1C, KCNE3, KCNE4, KCNJ2
11
Show member pathways
9.2CACNA1C, CACNA1S, CLCN1, INS
129.1CACNA1C, CACNA1S, CACNB4, RYR1
139.1CACNA1C, CACNA1S, CACNB4, RYR1
14
Show member pathways
9.1CACNA1C, CACNA1S, CACNB4, RYR1
15
Show member pathways
8.9ATP6V0A4, CLCN1, RYR1, TRDN
16
Show member pathways
8.5CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, SCN4A
178.5CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, KCNJ2
18
Show member pathways
8.4CACNA1C, CACNA1S, CACNB4, INS, KCNJ2, RYR1
19
Show member pathways
7.4CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, KCNJ2

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1I bandGO:003167410.8CACNA1S, RYR1
2L-type voltage-gated calcium channel complexGO:199045410.8CACNA1C, CACNA1S
3junctional membrane complexGO:003031410.4RYR1, TRDN
4junctional sarcoplasmic reticulum membraneGO:001470110.4RYR1, TRDN
5smooth endoplasmic reticulumGO:000579010.4KCNJ2, RYR1
6T-tubuleGO:003031510.1CACNA1S, KCNJ2, RYR1
7voltage-gated calcium channel complexGO:00058918.9CACNA1C, CACNA1S, CACNB4, TRDN
8integral component of membraneGO:00160217.4ATP6V0A4, CACNA1C, CACNA1S, CLCN1, KCNE3, KCNE4
9plasma membraneGO:00058867.0ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, KCNE3

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:008601010.8CACNA1S, SCN4A
2cellular response to caffeineGO:007131310.7CACNA1S, RYR1
3cardiac muscle cell action potential involved in contractionGO:008600210.7CACNA1C, KCNJ2
4membrane depolarization during cardiac muscle cell action potentialGO:008601210.7CACNA1C, KCNJ2
5regulation of heart rate by cardiac conductionGO:008609110.4CACNA1C, KCNE3, KCNJ2
6release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.4RYR1, TRDN
7skeletal muscle fiber developmentGO:004874110.3RYR1, XK
8potassium ion transmembrane transportGO:007180510.3KCNE3, KCNE4, KCNJ2
9potassium ion transportGO:000681310.3KCNE3, KCNE4, KCNJ2
10cardiac conductionGO:006133710.0CACNA1C, CACNA1S, CACNB4, KCNJ2
11calcium ion transmembrane transportGO:00705889.9CACNA1C, CACNA1S, CACNB4, RYR1
12calcium ion transportGO:00068169.9CACNA1C, CACNA1S, CACNB4, RYR1
13transmembrane transportGO:00550859.8CACNA1C, CACNA1S, CLCN1, RYR1, SCN4A
14cellular calcium ion homeostasisGO:00068749.8RYR1, TRDN, XK
15muscle contractionGO:00069369.6CACNA1S, CLCN1, RYR1, SCN4A, TRDN
16ion transmembrane transportGO:00342209.5ATP6V0A4, CLCN1, RYR1, SCN4A, TRDN
17regulation of ion transmembrane transportGO:00347658.4CACNA1C, CACNA1S, CACNB4, CLCN1, KCNE3, KCNE4
18ion transportGO:00068118.0ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, KCNE3
19transportGO:00068106.6ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, KCNE3

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

idNameGO IDScoreTop Affiliating Genes
1ion channel activityGO:000521610.3CACNA1C, RYR1, SCN4A
2high voltage-gated calcium channel activityGO:000833110.1CACNA1C, CACNA1S, CACNB4
3ion channel bindingGO:00443259.8KCNE3, KCNE4, TRDN
4calcium channel activityGO:00052629.8CACNA1C, CACNA1S, CACNB4, RYR1
5voltage-gated calcium channel activityGO:00052459.7CACNA1C, CACNA1S, CACNB4, RYR1
6voltage-gated ion channel activityGO:00052449.1CACNA1C, CACNA1S, CLCN1, KCNJ2, SCN4A

Sources for Hypokalemic Periodic Paralysis, Type 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet