HOKPP2
MCID: HYP606
MIFTS: 30

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:
Onset and clinical course phenotypic variability
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
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. ( 10944223 )
2000

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 all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh37 Chromosome 17, 62036638: 62036638
2 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh38 Chromosome 17, 63959278: 63959278
3 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh37 Chromosome 17, 62036629: 62036629
4 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh38 Chromosome 17, 63959269: 63959269
5 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
6 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
7 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
8 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh38 Chromosome 17, 63959270: 63959270
9 SCN4A NM_000334.4(SCN4A): c.3472C> T (p.Pro1158Ser) single nucleotide variant Pathogenic rs121908555 GRCh37 Chromosome 17, 62022968: 62022968
10 SCN4A NM_000334.4(SCN4A): c.3472C> T (p.Pro1158Ser) single nucleotide variant Pathogenic rs121908555 GRCh38 Chromosome 17, 63945608: 63945608
11 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh37 Chromosome 17, 62024451: 62024451
12 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh38 Chromosome 17, 63947091: 63947091
13 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh37 Chromosome 17, 62029006: 62029006
14 SCN4A NM_000334.4(SCN4A): c.2631T> C (p.Asp877=) single nucleotide variant Benign rs79893125 GRCh38 Chromosome 17, 63951646: 63951646
15 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh37 Chromosome 17, 62019103: 62019103
16 SCN4A NM_000334.4(SCN4A): c.4539C> A (p.Ile1513=) single nucleotide variant Benign rs56342400 GRCh38 Chromosome 17, 63941743: 63941743
17 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh37 Chromosome 17, 62018773: 62018773
18 SCN4A NM_000334.4(SCN4A): c.4869A> G (p.Thr1623=) single nucleotide variant Benign rs2070720 GRCh38 Chromosome 17, 63941413: 63941413
19 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh37 Chromosome 17, 62043537: 62043537
20 SCN4A NM_000334.4(SCN4A): c.1167T> C (p.Tyr389=) single nucleotide variant Benign rs16947296 GRCh38 Chromosome 17, 63966177: 63966177
21 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh37 Chromosome 17, 62041068: 62041068
22 SCN4A NM_000334.4(SCN4A): c.1570A> G (p.Ser524Gly) single nucleotide variant Benign rs6504191 GRCh38 Chromosome 17, 63963708: 63963708
23 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh37 Chromosome 17, 62034609: 62034609
24 SCN4A NM_000334.4(SCN4A): c.2289C> T (p.Ile763=) single nucleotide variant Benign/Likely benign rs76894284 GRCh38 Chromosome 17, 63957249: 63957249
25 SCN4A NM_000334.4(SCN4A): c.2989+5G> A single nucleotide variant Benign rs115695396 GRCh37 Chromosome 17, 62026748: 62026748
26 SCN4A NM_000334.4(SCN4A): c.2989+5G> A single nucleotide variant Benign rs115695396 GRCh38 Chromosome 17, 63949388: 63949388
27 SCN4A NM_000334.4(SCN4A): c.366C> T (p.Arg122=) single nucleotide variant Benign/Likely benign rs41280108 GRCh37 Chromosome 17, 62049738: 62049738
28 SCN4A NM_000334.4(SCN4A): c.366C> T (p.Arg122=) single nucleotide variant Benign/Likely benign rs41280108 GRCh38 Chromosome 17, 63972378: 63972378
29 SCN4A NM_000334.4(SCN4A): c.4126A> G (p.Asn1376Asp) single nucleotide variant Benign rs2058194 GRCh37 Chromosome 17, 62020348: 62020348
30 SCN4A NM_000334.4(SCN4A): c.4126A> G (p.Asn1376Asp) single nucleotide variant Benign rs2058194 GRCh38 Chromosome 17, 63942988: 63942988
31 SCN4A NM_000334.4(SCN4A): c.5403C> T (p.Ala1801=) single nucleotide variant Benign rs2227907 GRCh37 Chromosome 17, 62018239: 62018239
32 SCN4A NM_000334.4(SCN4A): c.5403C> T (p.Ala1801=) single nucleotide variant Benign rs2227907 GRCh38 Chromosome 17, 63940879: 63940879
33 SCN4A NM_000334.4(SCN4A): c.5478T> G (p.Thr1826=) single nucleotide variant Benign rs2227906 GRCh37 Chromosome 17, 62018164: 62018164
34 SCN4A NM_000334.4(SCN4A): c.5478T> G (p.Thr1826=) single nucleotide variant Benign rs2227906 GRCh38 Chromosome 17, 63940804: 63940804
35 SCN4A NM_000334.4(SCN4A): c.864C> T (p.Asn288=) single nucleotide variant Benign rs7218917 GRCh37 Chromosome 17, 62045555: 62045555
36 SCN4A NM_000334.4(SCN4A): c.864C> T (p.Asn288=) single nucleotide variant Benign rs7218917 GRCh38 Chromosome 17, 63968195: 63968195
37 SCN4A NM_000334.4(SCN4A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs527236148 GRCh37 Chromosome 17, 62048561: 62048561
38 SCN4A NM_000334.4(SCN4A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs527236148 GRCh38 Chromosome 17, 63971201: 63971201
39 SCN4A NM_000334.4(SCN4A): c.3386G> A (p.Arg1129Gln) single nucleotide variant Uncertain significance rs527236149 GRCh37 Chromosome 17, 62024460: 62024460
40 SCN4A NM_000334.4(SCN4A): c.3386G> A (p.Arg1129Gln) single nucleotide variant Uncertain significance rs527236149 GRCh38 Chromosome 17, 63947100: 63947100
41 SCN4A NM_000334.4(SCN4A): c.3404G> A (p.Arg1135His) single nucleotide variant Pathogenic rs527236150 GRCh37 Chromosome 17, 62024442: 62024442
42 SCN4A NM_000334.4(SCN4A): c.3404G> A (p.Arg1135His) single nucleotide variant Pathogenic rs527236150 GRCh38 Chromosome 17, 63947082: 63947082
43 SCN4A NM_000334.4(SCN4A): c.1100+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200770684 GRCh38 Chromosome 17, 63966474: 63966474
44 SCN4A NM_000334.4(SCN4A): c.1100+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200770684 GRCh37 Chromosome 17, 62043834: 62043834
45 SCN4A NM_000334.4(SCN4A): c.2623C> T (p.Pro875Ser) single nucleotide variant Benign/Likely benign rs201148948 GRCh38 Chromosome 17, 63951654: 63951654
46 SCN4A NM_000334.4(SCN4A): c.2623C> T (p.Pro875Ser) single nucleotide variant Benign/Likely benign rs201148948 GRCh37 Chromosome 17, 62029014: 62029014
47 SCN4A NM_000334.4(SCN4A): c.355G> A (p.Val119Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41280110 GRCh38 Chromosome 17, 63972389: 63972389
48 SCN4A NM_000334.4(SCN4A): c.355G> A (p.Val119Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41280110 GRCh37 Chromosome 17, 62049749: 62049749
49 SCN4A NM_000334.4(SCN4A): c.1796A> G (p.His599Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs187401185 GRCh38 Chromosome 17, 63961242: 63961242
50 SCN4A NM_000334.4(SCN4A): c.1796A> G (p.His599Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs187401185 GRCh37 Chromosome 17, 62038602: 62038602

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
32 HMDB
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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