MCID: NRM009
MIFTS: 32

Normokalemic Periodic Paralysis

Categories: Rare diseases

Aliases & Classifications for Normokalemic Periodic Paralysis

MalaCards integrated aliases for Normokalemic Periodic Paralysis:

Name: Normokalemic Periodic Paralysis 58 54 56 74
Normokalemic Periodic Paralysis, Potassium-Sensitive 30 6 74
Potassium-Sensitive Normokalemic Periodic Paralysis 54
Periodic Paralysis Type 3 54
Normokalemic Pp 54
Normokpp 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
normokalemic periodic paralysis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 170600
MedGen 43 C0268445
SNOMED-CT via HPO 70 198030008 263681008 3434004

Summaries for Normokalemic Periodic Paralysis

NIH Rare Diseases : 54 Normokalemic periodic paralysis (NormoKPP) is an inherited muscle disorder characterized by episodic attacks of muscle weakness. It was initially considered a distinct condition, but most physicians now consider it to be a variant form of hyperkalemic periodic paralysis. People with hyperkalemic periodic paralysis have increased potassium levels during an attack; people with the normokalemic form do not experience any change in their potassium levels during weakness, but most grow weak when given potassium. Studies have shown that both forms of the condition are caused by mutations in the SCN4A gene and it is inherited in an autosomal dominant manner. The goals of treatment are to relieve acute symptoms and prevent further attacks.

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

Description from OMIM: 170600

Related Diseases for Normokalemic Periodic Paralysis

Diseases related to Normokalemic Periodic Paralysis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperkalemic periodic paralysis 11.5
2 lipoid congenital adrenal hyperplasia 10.2
3 epilepsy 10.2
4 paramyotonia congenita of von eulenburg 9.6 LOC105371858 SCN4A
5 congenital myasthenic syndrome 9.4 LOC105371858 SCN4A
6 hypokalemic periodic paralysis, type 2 9.3 LOC105371858 SCN4A SCN7A

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:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 myotonia 33 HP:0002486
3 abnormality of the tongue 33 HP:0000157
4 periodic paralysis 33 HP:0003768

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Normokalemic Periodic Paralysis

Search Clinical Trials , NIH Clinical Center for Normokalemic Periodic Paralysis

Genetic Tests for Normokalemic Periodic Paralysis

Genetic tests related to Normokalemic Periodic Paralysis:

# Genetic test Affiliating Genes
1 Normokalemic Periodic Paralysis, Potassium-Sensitive 30

Anatomical Context for Normokalemic Periodic Paralysis

MalaCards organs/tissues related to Normokalemic Periodic Paralysis:

42
Tongue, Skeletal Muscle

Publications for Normokalemic Periodic Paralysis

Articles related to Normokalemic Periodic Paralysis:

(show all 16)
# Title Authors Year
1
Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide. ( 29907477 )
2018
2
Familial Normokalemic Periodic Paralysis Associated With Mutation in the <i>SCN4A</i> p.M1592V. ( 29930533 )
2018
3
Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis. ( 30338294 )
2018
4
[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation]. ( 24943082 )
2014
5
Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two novel mutations in SCN4A gene. ( 25193600 )
2014
6
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. ( 24682880 )
2014
7
Normokalemic periodic paralysis is not a distinct disease. ( 22926674 )
2012
8
[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]. ( 19065518 )
2008
9
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. ( 19052238 )
2008
10
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. ( 18046642 )
2008
11
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. ( 15596759 )
2004
12
[The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis]. ( 15583983 )
2004
13
[Screening SCN4A gene for mutations with denaturing high performance liquid chromatography technology in a Chinese family with normokalemic periodic paralysis]. ( 14990128 )
2004
14
An unrecognized cause of paralysis in ED: thyrotoxic normokalemic periodic paralysis. ( 12563586 )
2003
15
Normokalemic periodic paralysis revisited: does it exist? ( 12210802 )
2002
16
Congenital adrenal hyperplasia with normokalemic periodic paralysis. ( 9823836 )
1998

Variations for Normokalemic Periodic Paralysis

ClinVar genetic disease variations for Normokalemic Periodic Paralysis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.2023C> T (p.Arg675Trp) single nucleotide variant Pathogenic rs121908556 GRCh37 Chromosome 17, 62034875: 62034875
2 SCN4A NM_000334.4(SCN4A): c.2023C> T (p.Arg675Trp) single nucleotide variant Pathogenic rs121908556 GRCh38 Chromosome 17, 63957515: 63957515
3 SCN4A NM_000334.4(SCN4A): c.2023C> G (p.Arg675Gly) single nucleotide variant Pathogenic rs121908556 GRCh37 Chromosome 17, 62034875: 62034875
4 SCN4A NM_000334.4(SCN4A): c.2023C> G (p.Arg675Gly) single nucleotide variant Pathogenic rs121908556 GRCh38 Chromosome 17, 63957515: 63957515
5 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh37 Chromosome 17, 62034874: 62034874
6 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh38 Chromosome 17, 63957514: 63957514

Expression for Normokalemic Periodic Paralysis

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

Pathways for Normokalemic Periodic Paralysis

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 SCN4A SCN7A
2 voltage-gated sodium channel complex GO:0001518 8.62 SCN4A SCN7A

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.4 SCN4A SCN7A
2 regulation of ion transmembrane transport GO:0034765 9.37 SCN4A SCN7A
3 sodium ion transport GO:0006814 9.32 SCN4A SCN7A
4 muscle contraction GO:0006936 9.26 SCN4A SCN7A
5 sodium ion transmembrane transport GO:0035725 9.16 SCN4A SCN7A
6 neuronal action potential GO:0019228 8.96 SCN4A SCN7A
7 membrane depolarization during action potential GO:0086010 8.62 SCN4A SCN7A

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 9.26 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 Normokalemic Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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