MCID: HYP370
MIFTS: 40

Hypokalemic Periodic Paralysis, Type 1 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Hypokalemic Periodic Paralysis, Type 1

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Hypokalemic Periodic Paralysis, Type 1:

Name: Hypokalemic Periodic Paralysis, Type 1 46 9 20 22
Hypokalemic Periodic Paralysis 8 19 42 21 10 44 48 61
Periodic Hypokalemic Paralysis 8 20 22
Familial Periodic Paralysis 8 42 61
Westphall Disease 42 21 48
Hypopp 19 42 21
 
Hokpp 19 42 21
Familial Hypokalemic Periodic Paralysis 8 21
Hypokalemic Familial Periodic Paralysis 8
Primary Hypokalemic Periodic Paralysis 21
Periodic Paralysis I 8
Hypokpp 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
hypokalemic periodic paralysis:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM46 170400
Disease Ontology8 DOID:14452, DOID:1029
Orphanet48 681
MESH via Orphanet34 D020514
ICD10 via Orphanet26 G72.3
UMLS via Orphanet62 C0238358

Summaries for Hypokalemic Periodic Paralysis, Type 1

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Genetics Home Reference:21 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 myopathy and hypokalemia, 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 L1CAM interactions and Activation of cAMP-Dependent PKA. The compounds succinylcholine and dihydropyridine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and digestive/alimentary.

NIH Rare Diseases:42 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:46 There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP,... (170400) more...

Wikipedia:64 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 all 45)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.8CACNA1S, SCN4A
2hypokalemia30.7SCN4A, CACNA1S
3malignant hyperthermia30.7CACNA1S, SCN4A
4hyperkalemic periodic paralysis, type 230.0SCN4A, KCNE3, KCNJ2
5renal tubular acidosis10.7
6hypokalemic periodic paralysis, type 210.7
7thyrotoxicosis10.7
8hyperthyroidism10.6
9graves' disease10.6
10thyrotoxic periodic paralysis10.6
11thyroiditis10.5
12myasthenia gravis10.4
13sjogren's syndrome10.4
14hypophosphatemia10.4
15adenoma10.4
16westphal disease10.4
17malignant hyperthermia susceptibility10.3CACNA1S
18thyrotoxic periodic paralysis 110.3
19wolff-parkinson-white syndrome10.3
20amelogenesis imperfecta10.3
21glomerulonephritis10.3
22hepatitis10.3
23muscle disorders10.3
24hyperuricemia10.3
25membranoproliferative glomerulonephritis10.3
26diabetes insipidus10.3
27tropical sprue10.3
28gynecomastia10.3
29superior mesenteric artery syndrome10.3
30hyperaldosteronism10.3
31influenza10.3
32pituitary adenoma10.3
33respiratory failure10.3
34bidirectional tachycardia10.3
35growth hormone deficiency10.3
36thymic hyperplasia10.3
37myotonia10.3
38thyroid adenoma10.3
39proximal renal tubular acidosis10.3
40familial atrial fibrillation10.3KCNE3
41charcot-marie-tooth disease10.1
42waardenburg's syndrome10.1
43tooth disease10.1
44familial periodic paralyses10.1
45long qt syndrome9.7KCNE3, KCNJ2

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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Drug clinical trials:

Search ClinicalTrials for Hypokalemic Periodic Paralysis, Type 1

Search NIH Clinical Center for Hypokalemic Periodic Paralysis, Type 1

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 Paralysis20 22 SCN4A
2 Hypokalemic Periodic Paralysis Type 120 CACNA1S
3 Hypokalemic Periodic Paralysis 122

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CACNA1S, SCN4A, KCNJ2
2MP:00053818.3CACNA1S, KCNE3, 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:

63
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 21)
id Gene Variation Type Significance SNP ID Assembly Location
1CACNA1SHis916Glnundetermined variantPathogenic
2SCN4ANM_000334.4(SCN4A): c.664C> T (p.Arg222Trp)single nucleotide variantPathogenicGRCh37Chr 17, 62048561: 62048561
3SCN4ANM_000334.4(SCN4A): c.3386G> A (p.Arg1129Gln)single nucleotide variantPathogenicGRCh37Chr 17, 62024460: 62024460
4SCN4ANM_000334.4(SCN4A): c.3404G> A (p.Arg1135His)single nucleotide variantPathogenicGRCh37Chr 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.3257G> A (p.Arg1086His)single nucleotide variantrisk factorrs1800559GRCh37Chr 1, 201029943: 201029943
9CACNA1SNM_000069.2(CACNA1S): c.2691G> T (p.Arg897Ser)single nucleotide variantPathogenicrs80338779GRCh37Chr 1, 201035411: 201035411
10CACNA1SNM_000069.2(CACNA1S): c.2627T> A (p.Val876Glu)single nucleotide variantPathogenicrs267606698GRCh37Chr 1, 201036045: 201036045
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.4468T> C (p.Phe1490Leu)single nucleotide variantPathogenicrs80338790GRCh37Chr 17, 62019174: 62019174
15SCN4ANM_000334.4(SCN4A): c.4479G> A (p.Met1493Ile)single nucleotide variantPathogenicrs80338791GRCh37Chr 17, 62019163: 62019163
16KCNJ2NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341
17SCN4ANM_000334.4(SCN4A): c.2006G> A (p.Arg669His)single nucleotide variantPathogenicrs80338784GRCh37Chr 17, 62036638: 62036638
18SCN4ANM_000334.4(SCN4A): c.2015G> A (p.Arg672His)single nucleotide variantPathogenicrs80338788GRCh37Chr 17, 62036629: 62036629
19SCN4ANM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
20SCN4ANM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser)single nucleotide variantPathogenicrs80338785GRCh37Chr 17, 62036630: 62036630
21SCN4ANM_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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3CACNA1S, SCN4A
2
Show member pathways
9.3CACNA1S, SCN4A
3
Show member pathways
9.3CACNA1S, SCN4A
4
Show member pathways
9.1CACNA1S, KCNJ2
5
Show member pathways
9.1KCNJ2, CACNA1S
69.1KCNE3, KCNJ2
7
Show member pathways
9.1KCNE3, KCNJ2
88.6CACNA1S, KCNE3, KCNJ2

Compounds for genes affiliated with Hypokalemic Periodic Paralysis, Type 1

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1succinylcholine44 50 28 1112.5CACNA1S, SCN4A
2dihydropyridine449.4CACNA1S, SCN4A
3sodium44 2410.3CACNA1S, SCN4A
4histidine449.2CACNA1S, SCN4A
5potassium44 24 1110.6SCN4A, KCNE3, KCNJ2
6arginine448.5KCNJ2, SCN4A, CACNA1S
7calcium44 50 24 1111.2CACNA1S, SCN4A, 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
1T-tubuleGO:00303159.1CACNA1S, KCNJ2

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.3CACNA1S, SCN4A

Sources for Hypokalemic Periodic Paralysis, Type 1

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet