MCID: HYP606
MIFTS: 32

Hypokalemic Periodic Paralysis, Type 2

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

Aliases & Classifications for Hypokalemic Periodic Paralysis, Type 2

MalaCards integrated aliases for Hypokalemic Periodic Paralysis, Type 2:

Name: Hypokalemic Periodic Paralysis, Type 2 54 29 13 69
Hypokalemic Periodic Paralysis Type 2 24
Periodic Paralysis Hypokalemic 2 71
Hokpp2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
hypokalemic periodic paralysis, type 2:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613345
MedGen 40 C2750061
MeSH 42 D020514

Summaries for Hypokalemic Periodic Paralysis, Type 2

UniProtKB/Swiss-Prot : 71 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 hypokalemic periodic paralysis type 2, is related to nova syndrome and myotonia congenita, atypical, acetazolamide-responsive, and has symptoms including hypokalemia, myopathy and periodic paralysis. 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 Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience.

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:

id Related Disease Score Top Affiliating Genes
1 nova syndrome 9.8 SCN4A SCN7A
2 myotonia congenita, atypical, acetazolamide-responsive 9.8 SCN4A SCN7A
3 nevus cavernosus 9.7 SCN4A SCN7A
4 monocular esotropia 9.4 QDPR SCN4A
5 oropharynx cancer 9.3 QDPR SCN4A
6 hypokalemic periodic paralysis, type 1 9.1 QDPR SCN4A
7 sessile serrated polyposis cancer syndrome 9.0 QDPR SCN4A SCN7A

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

Symptoms via clinical synopsis from OMIM:

54

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

Human phenotypes related to Hypokalemic Periodic Paralysis, Type 2:

32
id Description HPO Frequency HPO Source Accession
1 hypokalemia 32 HP:0002900
2 myopathy 32 HP:0003198
3 periodic paralysis 32 HP:0003768
4 episodic flaccid weakness 32 HP:0003752

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:

id Genetic test Affiliating Genes
1 Hypokalemic Periodic Paralysis, Type 2 29
2 Hypokalemic Periodic Paralysis Type 2 24 SCN4A

Anatomical Context for Hypokalemic Periodic Paralysis, Type 2

Publications for Hypokalemic Periodic Paralysis, Type 2

Articles related to Hypokalemic Periodic Paralysis, Type 2:

id 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:

71 (show all 11)
id 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

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

6
id 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.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh37 Chromosome 17, 62036629: 62036629
3 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
4 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
5 SCN4A NM_000334.4(SCN4A): c.3472C> T (p.Pro1158Ser) single nucleotide variant Pathogenic rs121908555 GRCh37 Chromosome 17, 62022968: 62022968
6 SCN4A NM_000334.4(SCN4A): c.3395G> A (p.Arg1132Gln) single nucleotide variant Pathogenic rs80338789 GRCh37 Chromosome 17, 62024451: 62024451
7 SCN4A NM_000334.4(SCN4A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs527236148 GRCh37 Chromosome 17, 62048561: 62048561
8 SCN4A NM_000334.4(SCN4A): c.3404G> A (p.Arg1135His) single nucleotide variant Pathogenic rs527236150 GRCh37 Chromosome 17, 62024442: 62024442

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 SCN4A SCN7A
2 11.77 SCN4A SCN7A
3
Show member pathways
11.25 SCN4A SCN7A
4
Show member pathways
10.83 SCN4A SCN7A
5 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:

id Name GO ID Score Top Affiliating Genes
1 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:

id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.43 SCN4A SCN7A
2 regulation of ion transmembrane transport GO:0034765 9.4 SCN4A SCN7A
3 sodium ion transport GO:0006814 9.37 SCN4A SCN7A
4 muscle contraction GO:0006936 9.32 SCN4A SCN7A
5 sodium ion transmembrane transport GO:0035725 9.26 SCN4A SCN7A
6 regulation of postsynaptic membrane potential GO:0060078 9.16 SCN4A SCN7A
7 neuronal action potential GO:0019228 8.96 SCN4A SCN7A
8 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:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.26 SCN4A SCN7A
2 ion channel activity GO:0005216 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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