MCID: HYP370
MIFTS: 51

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:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypokalemic Periodic Paralysis, Type 1:

Name: Hypokalemic Periodic Paralysis, Type 1 50 12
Hypokalemic Periodic Paralysis 11 22 46 23 24 13 52 48 37 66
Hypopp 22 46 23 24 68
Hokpp 22 46 23 24 68
Westphall Disease 24 52 68
Familial Hypokalemic Periodic Paralysis 11 24
Hypokalemic Periodic Paralysis Type 1 23 66
Periodic Paralysis Hypokalemic 1 68 25
 
Periodic Hypokalemic Paralysis 11 25
Familial Periodic Paralysis 11 66
Hypokalemic Familial Periodic Paralysis 11
Primary Hypokalemic Periodic Paralysis 24
Periodic Paralysis I 11
Hypokpp 24
Hokpp1 68

Characteristics:

Orphanet epidemiological data:

52
hypokalemic periodic paralysis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
hypokalemic periodic paralysis, type 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM50 170400
Disease Ontology11 DOID:14452
ICD1028 G72.3
MeSH37 D020514
NCIt43 C84775
Orphanet52 ORPHA681
UMLS via Orphanet67 C0238358
ICD10 via Orphanet29 G72.3
MESH via Orphanet38 D020514

Summaries for Hypokalemic Periodic Paralysis, Type 1

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Genetics Home Reference:24 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, 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 Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Renin secretion. Related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

NIH Rare Diseases:46 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:50 There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP,... (170400) more...

UniProtKB/Swiss-Prot:68 Periodic paralysis hypokalemic 1: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.

Wikipedia:69 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 79)
idRelated DiseaseScoreTop Affiliating Genes
1hypokalemic periodic paralysis, type 234.7KCNE3, SCN4A
2familial periodic paralysis12.4
3westphal disease12.1
4thyrotoxic periodic paralysis 111.6
5thyrotoxic periodic paralysis 211.6
6thyrotoxic periodic paralysis11.6
7familial periodic paralyses11.1
8neuropathy, hereditary sensory, type if10.7CACNA1S, KCNE3
9polyhydramnios, megalencephaly, and symptomatic epilepsy10.6KCNE3, SCN4A
10myasthenic syndrome, congenital, 1610.6KCNE3, SCN4A
11brugada syndrome 110.6CACNA1C, KCNE3
12myotonic dystrophy 210.5CLCN1, SCN4A
13coccidiosis10.5CLCN1, SCN4A
14tibial aplasia ectrodactyly hydrocephalus10.5CACNA1S, KCNJ2
15microcephaly-polymicrogyria-corpus callosum agenesis syndrome10.4CACNA1C, KCNJ2
16medium-chain acyl-coenzyme a dehydrogenase deficiency10.4CACNA1S, RYR1, SCN4A
17renal tubular acidosis10.4
18oligodontia-colorectal cancer syndrome10.4KCNE3, QDPR, SCN4A
19myelodysplastic myeloproliferative cancer10.4CLCN1, RYR1
20polycystic kidney disease10.4CACNA1S, SCN4A
21orofaciodigital syndrome10.3CLCN1, RYR1, SCN4A
22epilepsy, generalized, with febrile seizures plus, type 110.3CACNA1S, QDPR, RYR1
23graves' disease10.3
24hyperthyroidism10.3
25pituitary tumors10.2CACNA1S, KCNE3, KCNJ2, SCN4A
26myopathy10.2
27hypokalemia10.2
28hyperkalemic periodic paralysis, type 210.2
29myasthenia gravis10.2
30thyroiditis10.2
31malignant hyperthermia10.2
32vallecula cancer10.1CACNA1S, QDPR, RYR1, SCN4A
33hypertelorism, preauricular sinus, punctal pits, and deafness10.1CACNA1S, INS, SCN4A
34tricuspid valve disease10.1TRDN, XK
35cone dystrophy10.1CACNA1C, KCNJ2, TRDN
36brugada syndrome 310.1CACNA1C, TRDN
37cerebral cavernous malformation, familial10.1KCNJ2, RYR1, TRDN
38hypophosphatemia10.1
39sjogren's syndrome10.1
40epilepsy10.1
41adenoma10.1
42thymic hyperplasia10.1
43stormorken syndrome10.1QDPR, RYR1, TRDN
44ciliary dyskinesia, primary, 9, with or without situs inversus10.0CACNA1S, KCNJ2, SCN4A, TRDN
45labyrinthine bilateral reactive loss10.0INS, SCN4A
46mucinous tubular and spindle renal cell carcinoma10.0ATP6V0A4, XK
47wolff-parkinson-white syndrome9.9
48amelogenesis imperfecta9.9
49glomerulonephritis9.9
50hepatitis9.9

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

Symptoms:

 52 (show all 16)
  • periodic hypokalemic paresis
  • episodic hypokalemia
  • emg abnormality
  • paralysis
  • episodic flaccid weakness
  • abnormality of muscle fibers
  • mildly elevated creatine phosphokinase
  • increased intramyocellular lipid droplets
  • exercise-induced muscle fatigue
  • postprandial hyperglycemia
  • late-onset proximal muscle weakness
  • respiratory paralysis
  • adrenocortical adenoma
  • fatigable weakness of respiratory muscles
  • myotonia
  • impaired myocardial contractility

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

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

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DichlorphenamidePhase 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
2diureticsPhase 21338
3
BumetanidePhase 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 (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
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 Paralysis25 23 SCN4A
2 Hypokalemic Periodic Paralysis 125
3 Hypokalemic Periodic Paralysis Type 123 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9ATP6V0A4, CACNB4, CLCN1, KCNE3, SCN4A
2MP:00053818.2CACNA1S, CACNB4, INS, KCNE3, KCNJ2, RYR1
3MP:00053908.0ATP6V0A4, CACNA1S, CLCN1, INS, KCNJ2, QDPR
4MP:00053696.8CACNA1C, CACNA1S, CACNB4, CLCN1, INS, KCNJ2
5MP:00053786.7ATP6V0A4, CACNA1S, CACNB4, CLCN1, INS, KCNJ2
6MP:00053866.6ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, INS
7MP:00053766.5ATP6V0A4, CACNA1C, CACNA1S, CLCN1, INS, KCNE3
8MP:00107686.2ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, INS

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:

68
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
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 variantPathogenicrs797045031GRCh37Chr 1, 201027621: 201027621
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 21)
idSuper pathwaysScoreTop Affiliating Genes
19.9CACNA1S, RYR1
29.7CACNA1C, CACNA1S, KCNJ2
39.7CACNA1C, CACNA1S, RYR1
49.2CACNA1C, KCNE3, KCNE4, KCNJ2
5
Show member pathways
9.1CACNA1C, CACNA1S, CACNB4
6
Show member pathways
9.1CACNA1C, CACNA1S, CACNB4
79.1CACNA1C, CACNA1S, CACNB4
89.1CACNA1C, CACNA1S, CACNB4
9
Show member pathways
9.0CACNA1C, CACNA1S, INS, RYR1
10
Show member pathways
9.0CACNA1C, CACNA1S, CLCN1, INS
11
Show member pathways
8.9ATP6V0A4, CLCN1, RYR1, TRDN
12
Show member pathways
8.9CACNA1C, CACNA1S, KCNJ2, KCNQ5, RYR1
138.8CACNA1C, CACNA1S, CACNB4, RYR1
148.8CACNA1C, CACNA1S, CACNB4, RYR1
15
Show member pathways
8.8CACNA1C, CACNA1S, CACNB4, RYR1
168.6CACNA1C, CACNA1S, CACNB4, KCNQ5
17
Show member pathways
8.6CACNA1C, CACNA1S, CACNB4, KCNJ2, RYR1
18
Show member pathways
8.5CACNA1C, CACNA1S, CACNB4, INS
19
Show member pathways
8.2CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, SCN4A
207.6CACNA1C, CACNA1S, CACNB4, KCNE3, KCNE4, KCNJ2
21
Show member pathways
7.1CACNA1C, 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:003167410.5CACNA1S, RYR1
2T-tubuleGO:003031510.3CACNA1S, KCNJ2, RYR1
3junctional sarcoplasmic reticulum membraneGO:001470110.3RYR1, TRDN
4junctional membrane complexGO:003031410.3RYR1, TRDN
5smooth endoplasmic reticulumGO:000579010.3KCNJ2, RYR1
6voltage-gated potassium channel complexGO:00080769.7KCNE3, KCNJ2, KCNQ5
7voltage-gated calcium channel complexGO:00058919.3CACNA1C, CACNA1S, CACNB4, TRDN
8plasma membraneGO:00058866.1ATP6V0A4, CACNA1C, CACNA1S, CACNB4, CLCN1, KCNE3

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:008601010.5CACNA1S, SCN4A
2membrane depolarization during cardiac muscle cell action potentialGO:008601210.5CACNA1C, KCNJ2
3cardiac muscle cell action potential involved in contractionGO:008600210.5CACNA1C, KCNJ2
4regulation of membrane repolarizationGO:006030610.5KCNE3, KCNJ2
5release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.1RYR1, TRDN
6regulation of heart rate by cardiac conductionGO:008609110.0CACNA1C, KCNJ2
7skeletal muscle fiber developmentGO:004874110.0RYR1, XK
8potassium ion transportGO:00068139.9KCNJ2, KCNQ5, SCN4A
9neuronal action potential propagationGO:00192279.7CACNB4, CLCN1
10cardiac conductionGO:00613379.4CACNA1C, CACNA1S, CACNB4, KCNJ2
11calcium ion transmembrane transportGO:00705889.4CACNA1C, CACNA1S, CACNB4
12regulation of ion transmembrane transportGO:00347659.3CACNA1S, KCNE4, KCNQ5, SCN4A
13potassium ion transmembrane transportGO:00718059.3KCNE3, KCNE4, KCNJ2, KCNQ5
14ion transmembrane transportGO:00342209.1ATP6V0A4, CLCN1, RYR1, TRDN
15muscle contractionGO:00069368.8CACNA1S, CLCN1, RYR1, SCN4A, TRDN
16cellular calcium ion homeostasisGO:00068748.8CACNB4, TRDN, XK

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:000833110.3CACNA1C, CACNA1S
2inward rectifier potassium channel activityGO:000524210.2KCNJ2, KCNQ5
3voltage-gated potassium channel activityGO:00052499.2KCNE3, KCNE4, KCNQ5
4ion channel bindingGO:00443259.2KCNE3, KCNE4, TRDN
5voltage-gated calcium channel activityGO:00052459.1CACNA1C, CACNA1S, CACNB4, RYR1

Sources for Hypokalemic Periodic Paralysis, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet