HOKPP2
MCID: HYP606
MIFTS: 32

Hypokalemic Periodic Paralysis, Type 2 (HOKPP2)

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

Aliases & Classifications for Hypokalemic Periodic Paralysis, Type 2

MalaCards integrated aliases for Hypokalemic Periodic Paralysis, Type 2:

Name: Hypokalemic Periodic Paralysis, Type 2 58 30 13 6 74
Hokpp2 58 76
Paralysis, Hypokalemic, Periodic, Type 2 41
Periodic Paralysis Hypokalemic 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
allelic disorder to hyperkalemic periodic paralysis (hypp, )
onset usually in second decade (may occur earlier)
one-third of cases are sporadic
reduced penetrance in females


HPO:

33
hypokalemic periodic paralysis, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613345
MeSH 45 D020514
MedGen 43 C2750061
UMLS 74 C2750061

Summaries for Hypokalemic Periodic Paralysis, Type 2

UniProtKB/Swiss-Prot : 76 Periodic paralysis hypokalemic 2: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.

MalaCards based summary : Hypokalemic Periodic Paralysis, Type 2, also known as hokpp2, is related to hypokalemic periodic paralysis, type 1 and paramyotonia congenita of von eulenburg. An important gene associated with Hypokalemic Periodic Paralysis, Type 2 is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. Related phenotypes are hypokalemia and myopathy

Description from OMIM: 613345

Related Diseases for Hypokalemic Periodic Paralysis, Type 2

Diseases in the Hypokalemic Periodic Paralysis, Type 1 family:

Hypokalemic Periodic Paralysis, Type 2

Diseases related to Hypokalemic Periodic Paralysis, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypokalemic periodic paralysis, type 1 29.7 QDPR SCN4A
2 paramyotonia congenita of von eulenburg 9.9 LOC105371858 SCN4A
3 familial periodic paralysis 9.7 QDPR SCN4A
4 congenital myasthenic syndrome 9.7 LOC105371858 SCN4A
5 malignant hyperthermia 9.7 QDPR SCN4A
6 normokalemic periodic paralysis 9.6 LOC105371858 SCN4A SCN7A
7 muscular disease 9.5 QDPR SCN4A

Graphical network of the top 20 diseases related to Hypokalemic Periodic Paralysis, Type 2:



Diseases related to Hypokalemic Periodic Paralysis, Type 2

Symptoms & Phenotypes for Hypokalemic Periodic Paralysis, Type 2

Human phenotypes related to Hypokalemic Periodic Paralysis, Type 2:

33
# Description HPO Frequency HPO Source Accession
1 hypokalemia 33 HP:0002900
2 myopathy 33 HP:0003198
3 episodic flaccid weakness 33 HP:0003752
4 periodic paralysis 33 HP:0003768

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
flaccid weakness or paralysis, episodic attacks
attacks last 4 to 24 hours
attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
attacks may present during or after sleep
attacks relieved by potassium administration
more
Laboratory Abnormalities:
hypokalemia occurs during paralytic attacks

Clinical features from OMIM:

613345

Drugs & Therapeutics for Hypokalemic Periodic Paralysis, Type 2

Search Clinical Trials , NIH Clinical Center for Hypokalemic Periodic Paralysis, Type 2

Genetic Tests for Hypokalemic Periodic Paralysis, Type 2

Genetic tests related to Hypokalemic Periodic Paralysis, Type 2:

# Genetic test Affiliating Genes
1 Hypokalemic Periodic Paralysis, Type 2 30 SCN4A

Anatomical Context for Hypokalemic Periodic Paralysis, Type 2

Publications for Hypokalemic Periodic Paralysis, Type 2

Articles related to Hypokalemic Periodic Paralysis, Type 2:

# Title Authors Year
1
Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia. ( 21490317 )
2011
2
Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. ( 16890191 )
2006
3
SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide. ( 15557532 )
2004
4
Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis. ( 14557559 )
2003
5
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. ( 11912116 )
2002
6
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. ( 11558801 )
2001
7
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. ( 11591859 )
2001
8
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. ( 10851391 )
2000
9
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. ( 10944223 )
2000
10
A novel sodium channel mutation in a family with hypokalemic periodic paralysis. ( 10599760 )
1999

Variations for Hypokalemic Periodic Paralysis, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Hypokalemic Periodic Paralysis, Type 2:

76 (show all 11)
# Symbol AA change Variation ID SNP ID
1 SCN4A p.Arg669His VAR_017788 rs80338784
2 SCN4A p.Arg672Gly VAR_017789 rs80338785
3 SCN4A p.Arg672His VAR_017790 rs80338788
4 SCN4A p.Arg672Ser VAR_017791 rs80338785
5 SCN4A p.Pro1158Ser VAR_017792 rs121908555
6 SCN4A p.Arg222Trp VAR_054935 rs527236148
7 SCN4A p.Arg672Cys VAR_054939 rs80338785
8 SCN4A p.Arg1132Gln VAR_054943 rs80338789
9 SCN4A p.Arg1135His VAR_054944 rs527236150
10 SCN4A p.Arg1129Gln VAR_064987 rs527236149
11 SCN4A p.Arg1135Cys VAR_075434 rs128786334

ClinVar genetic disease variations for Hypokalemic Periodic Paralysis, Type 2:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.2111C> T (p.Thr704Met) single nucleotide variant Pathogenic rs80338957 GRCh37 Chromosome 17, 62034787: 62034787
2 SCN4A NM_000334.4(SCN4A): c.2111C> T (p.Thr704Met) single nucleotide variant Pathogenic rs80338957 GRCh38 Chromosome 17, 63957427: 63957427
3 SCN4A NM_000334.4(SCN4A): c.4774A> G (p.Met1592Val) single nucleotide variant Pathogenic rs80338962 GRCh37 Chromosome 17, 62018868: 62018868
4 SCN4A NM_000334.4(SCN4A): c.4774A> G (p.Met1592Val) single nucleotide variant Pathogenic rs80338962 GRCh38 Chromosome 17, 63941508: 63941508
5 SCN4A NM_000334.4(SCN4A): c.3938C> T (p.Thr1313Met) single nucleotide variant Pathogenic rs121908547 GRCh37 Chromosome 17, 62021185: 62021185
6 SCN4A NM_000334.4(SCN4A): c.3938C> T (p.Thr1313Met) single nucleotide variant Pathogenic rs121908547 GRCh38 Chromosome 17, 63943825: 63943825
7 SCN4A NM_000334.4(SCN4A): c.1333G> A (p.Val445Met) single nucleotide variant Pathogenic rs121908552 GRCh37 Chromosome 17, 62041947: 62041947
8 SCN4A NM_000334.4(SCN4A): c.1333G> A (p.Val445Met) single nucleotide variant Pathogenic rs121908552 GRCh38 Chromosome 17, 63964587: 63964587
9 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh37 Chromosome 17, 62036638: 62036638
10 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh38 Chromosome 17, 63959278: 63959278
11 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh37 Chromosome 17, 62036629: 62036629
12 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh38 Chromosome 17, 63959269: 63959269
13 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
14 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
15 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
16 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
17 SCN4A NM_000334.4(SCN4A): c.3472C> T (p.Pro1158Ser) single nucleotide variant Pathogenic rs121908555 GRCh37 Chromosome 17, 62022968: 62022968
18 SCN4A NM_000334.4(SCN4A): c.3472C> T (p.Pro1158Ser) single nucleotide variant Pathogenic rs121908555 GRCh38 Chromosome 17, 63945608: 63945608
19 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh37 Chromosome 17, 62024451: 62024451
20 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh38 Chromosome 17, 63947091: 63947091
21 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh37 Chromosome 17, 62029006: 62029006
22 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh38 Chromosome 17, 63951646: 63951646
23 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh37 Chromosome 17, 62019103: 62019103
24 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh38 Chromosome 17, 63941743: 63941743
25 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh37 Chromosome 17, 62018773: 62018773
26 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh38 Chromosome 17, 63941413: 63941413
27 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh37 Chromosome 17, 62043537: 62043537
28 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh38 Chromosome 17, 63966177: 63966177
29 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh37 Chromosome 17, 62041068: 62041068
30 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh38 Chromosome 17, 63963708: 63963708
31 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh37 Chromosome 17, 62034609: 62034609
32 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh38 Chromosome 17, 63957249: 63957249
33 SCN4A NM_000334.4(SCN4A): c.2989+5G> A single nucleotide variant Benign rs115695396 GRCh37 Chromosome 17, 62026748: 62026748
34 SCN4A NM_000334.4(SCN4A): c.2989+5G> A single nucleotide variant Benign rs115695396 GRCh38 Chromosome 17, 63949388: 63949388
35 SCN4A NM_000334.4(SCN4A): c.366C> T (p.Arg122=) single nucleotide variant Benign/Likely benign rs41280108 GRCh37 Chromosome 17, 62049738: 62049738
36 SCN4A NM_000334.4(SCN4A): c.366C> T (p.Arg122=) single nucleotide variant Benign/Likely benign rs41280108 GRCh38 Chromosome 17, 63972378: 63972378
37 SCN4A NM_000334.4(SCN4A): c.4126A> G (p.Asn1376Asp) single nucleotide variant Benign rs2058194 GRCh37 Chromosome 17, 62020348: 62020348
38 SCN4A NM_000334.4(SCN4A): c.4126A> G (p.Asn1376Asp) single nucleotide variant Benign rs2058194 GRCh38 Chromosome 17, 63942988: 63942988
39 SCN4A NM_000334.4(SCN4A): c.5403C> T (p.Ala1801=) single nucleotide variant Benign rs2227907 GRCh37 Chromosome 17, 62018239: 62018239
40 SCN4A NM_000334.4(SCN4A): c.5403C> T (p.Ala1801=) single nucleotide variant Benign rs2227907 GRCh38 Chromosome 17, 63940879: 63940879
41 SCN4A NM_000334.4(SCN4A): c.5478T> G (p.Thr1826=) single nucleotide variant Benign rs2227906 GRCh37 Chromosome 17, 62018164: 62018164
42 SCN4A NM_000334.4(SCN4A): c.5478T> G (p.Thr1826=) single nucleotide variant Benign rs2227906 GRCh38 Chromosome 17, 63940804: 63940804
43 SCN4A NM_000334.4(SCN4A): c.864C> T (p.Asn288=) single nucleotide variant Benign rs7218917 GRCh37 Chromosome 17, 62045555: 62045555
44 SCN4A NM_000334.4(SCN4A): c.864C> T (p.Asn288=) single nucleotide variant Benign rs7218917 GRCh38 Chromosome 17, 63968195: 63968195
45 SCN4A NM_000334.4(SCN4A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic/Likely pathogenic rs527236148 GRCh37 Chromosome 17, 62048561: 62048561
46 SCN4A NM_000334.4(SCN4A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic/Likely pathogenic rs527236148 GRCh38 Chromosome 17, 63971201: 63971201
47 SCN4A NM_000334.4(SCN4A): c.3386G> A (p.Arg1129Gln) single nucleotide variant Uncertain significance rs527236149 GRCh37 Chromosome 17, 62024460: 62024460
48 SCN4A NM_000334.4(SCN4A): c.3386G> A (p.Arg1129Gln) single nucleotide variant Uncertain significance rs527236149 GRCh38 Chromosome 17, 63947100: 63947100
49 SCN4A NM_000334.4(SCN4A): c.3404G> A (p.Arg1135His) single nucleotide variant Pathogenic rs527236150 GRCh37 Chromosome 17, 62024442: 62024442
50 SCN4A NM_000334.4(SCN4A): c.3404G> A (p.Arg1135His) single nucleotide variant Pathogenic rs527236150 GRCh38 Chromosome 17, 63947082: 63947082

Expression for Hypokalemic Periodic Paralysis, Type 2

Search GEO for disease gene expression data for Hypokalemic Periodic Paralysis, Type 2.

Pathways for Hypokalemic Periodic Paralysis, Type 2

Pathways related to Hypokalemic Periodic Paralysis, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 SCN4A SCN7A
2
Show member pathways
11.25 SCN4A SCN7A
3
Show member pathways
10.83 SCN4A SCN7A
4 10.1 SCN4A SCN7A

GO Terms for Hypokalemic Periodic Paralysis, Type 2

Cellular components related to Hypokalemic Periodic Paralysis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.96 SCN4A SCN7A
2 voltage-gated sodium channel complex GO:0001518 8.62 SCN4A SCN7A

Biological processes related to Hypokalemic Periodic Paralysis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.37 SCN4A SCN7A
2 sodium ion transport GO:0006814 9.32 SCN4A SCN7A
3 muscle contraction GO:0006936 9.26 SCN4A SCN7A
4 sodium ion transmembrane transport GO:0035725 9.16 SCN4A SCN7A
5 neuronal action potential GO:0019228 8.96 SCN4A SCN7A
6 membrane depolarization during action potential GO:0086010 8.62 SCN4A SCN7A

Molecular functions related to Hypokalemic Periodic Paralysis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.26 SCN4A SCN7A
2 voltage-gated ion channel activity GO:0005244 9.16 SCN4A SCN7A
3 sodium channel activity GO:0005272 8.96 SCN4A SCN7A
4 voltage-gated sodium channel activity GO:0005248 8.62 SCN4A SCN7A

Sources for Hypokalemic Periodic Paralysis, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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35 ICD10 via Orphanet
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45 MeSH
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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