Aliases & Classifications for Normokalemic Periodic Paralysis

MalaCards integrated aliases for Normokalemic Periodic Paralysis:

Name: Normokalemic Periodic Paralysis 57 54 70
Normokalemic Periodic Paralysis, Potassium-Sensitive 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
normokalemic periodic paralysis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 170600
MedGen 41 C0268445
SNOMED-CT via HPO 68 198030008 263681008 3434004
UMLS 70 C0268445 C1868433

Summaries for Normokalemic Periodic Paralysis

MalaCards based summary : Normokalemic Periodic Paralysis, also known as normokalemic periodic paralysis, potassium-sensitive, is related to hyperkalemic periodic paralysis and myotonia, potassium-aggravated. An important gene associated with Normokalemic Periodic Paralysis is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and G-Beta Gamma Signaling. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are myotonia and abnormality of the tongue

More information from OMIM: 170600

Related Diseases for Normokalemic Periodic Paralysis

Graphical network of the top 20 diseases related to Normokalemic Periodic Paralysis:



Diseases related to Normokalemic Periodic Paralysis

Symptoms & Phenotypes for Normokalemic Periodic Paralysis

Human phenotypes related to Normokalemic Periodic Paralysis:

31
# Description HPO Frequency HPO Source Accession
1 myotonia 31 HP:0002486
2 abnormality of the tongue 31 HP:0000157
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 periodic paralysis 31 HP:0003768

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
periodic paralysis

Misc:
favorable response to sodium chloride

Tongue:
tongue percussion-myotonia

Lab:
normokalemia
dilatation of sarcoplasmic reticulum in skeletal muscle by em

Clinical features from OMIM®:

170600 (Updated 20-May-2021)

Drugs & Therapeutics for Normokalemic Periodic Paralysis

Search Clinical Trials , NIH Clinical Center for Normokalemic Periodic Paralysis

Genetic Tests for Normokalemic Periodic Paralysis

Anatomical Context for Normokalemic Periodic Paralysis

MalaCards organs/tissues related to Normokalemic Periodic Paralysis:

40
Skeletal Muscle, Tongue

Publications for Normokalemic Periodic Paralysis

Articles related to Normokalemic Periodic Paralysis:

(show all 38)
# Title Authors PMID Year
1
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 61 54 6
15596759 2004
2
Clinical and ultrastructural observations in a kindred with normo-hyperkalaemic periodic paralysis. 57
235652 1975
3
A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride. 57
13737364 1961
4
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 54 61
19065518 2008
5
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 54 61
18046642 2008
6
[The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis]. 61 54
15583983 2004
7
[Screening SCN4A gene for mutations with denaturing high performance liquid chromatography technology in a Chinese family with normokalemic periodic paralysis]. 61 54
14990128 2004
8
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis. 61
33345742 2021
9
Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing. 61
32962503 2020
10
Skeletal muscle CaV1.1 channelopathies. 61
32222817 2020
11
[Analysis of SCN4A gene variation in a Chinese pedigree affected with skeletal muscle sodium channelopathies]. 61
31400134 2019
12
SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review. 61
31708864 2019
13
Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis. 61
30338294 2018
14
Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide. 61
29907477 2018
15
Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V. 61
29930533 2018
16
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy. 61
29048924 2017
17
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 61
25839108 2015
18
Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two novel mutations in SCN4A gene. 61
25193600 2015
19
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. 61
24682880 2014
20
[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation]. 61
24943082 2014
21
[A case of normokalemic periodic paralysis]. 61
23885617 2013
22
[Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis]. 61
23527931 2013
23
Normokalemic periodic paralysis is not a distinct disease. 61
22926674 2012
24
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations. 61
20660662 2010
25
[A case report of normokalemic periodic paralysis]. 61
19374821 2009
26
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 61
19052238 2008
27
An unrecognized cause of paralysis in ED: thyrotoxic normokalemic periodic paralysis. 61
12563586 2003
28
Normokalemic periodic paralysis revisited: does it exist? 61
12210802 2002
29
[Normokalemic periodic paralysis]. 61
11555890 2001
30
Congenital adrenal hyperplasia with normokalemic periodic paralysis. 61
9823836 1998
31
[Periodic paralysis, myotonia]. 61
8904245 1996
32
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. 61
8215982 1993
33
[Evaluation of cardiac function during KCl-induced paralytic attack in the patients with normokalemic periodic paralysis]. 61
2044301 1991
34
The exercise test in periodic paralysis. 61
3785281 1986
35
Periodic paralysis with cardiac arrhythmia. 61
6628456 1983
36
Biphasic periodic paralysis. 61
508128 1979
37
Studies of fragmented sarcoplasmic reticulum from human skeletal muscle. 61
149513 1978
38
[RECURRING ATTACKS OF MUSCULAR WEAKNESS OF HEREDITARY NATURE (FAMILIAL PERIODIC PARALYSIS, ADYNAMIC EPISODICA HEREDITARIA AND NORMOKALEMIC PERIODIC PARALYSIS SENSITIVE TO SODIUM]. 61
14142227 1964

Variations for Normokalemic Periodic Paralysis

ClinVar genetic disease variations for Normokalemic Periodic Paralysis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) SNV Pathogenic 5902 rs121908556 GRCh37: 17:62034875-62034875
GRCh38: 17:63957515-63957515
2 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) SNV Pathogenic 5918 rs121908556 GRCh37: 17:62034875-62034875
GRCh38: 17:63957515-63957515
3 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) SNV Pathogenic 5919 rs121908557 GRCh37: 17:62034874-62034874
GRCh38: 17:63957514-63957514

Expression for Normokalemic Periodic Paralysis

Search GEO for disease gene expression data for Normokalemic Periodic Paralysis.

Pathways for Normokalemic Periodic Paralysis

Pathways related to Normokalemic Periodic Paralysis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 SCN7A SCN4A
2
Show member pathways
11.91 SCN7A SCN4A
3 11.79 SCN7A SCN4A
4
Show member pathways
11.25 SCN7A SCN4A
5
Show member pathways
10.83 SCN7A SCN4A
6 10.1 SCN7A SCN4A

GO Terms for Normokalemic Periodic Paralysis

Cellular components related to Normokalemic Periodic Paralysis according to GeneCards Suite gene sharing:

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

Biological processes related to Normokalemic Periodic Paralysis according to GeneCards Suite gene sharing:

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

Molecular functions related to Normokalemic Periodic Paralysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.32 SCN7A SCN4A
2 voltage-gated ion channel activity GO:0005244 9.26 SCN7A SCN4A
3 cation channel activity GO:0005261 9.16 SCN7A SCN4A
4 sodium channel activity GO:0005272 8.96 SCN7A SCN4A
5 voltage-gated sodium channel activity GO:0005248 8.62 SCN7A SCN4A

Sources for Normokalemic Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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