MCID: PRD021
MIFTS: 41

Periodic Paralysis

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

Aliases & Classifications for Periodic Paralysis

MalaCards integrated aliases for Periodic Paralysis:

Name: Periodic Paralysis 58 36 29 54 6 32

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H00215
ICD10 32 G72.3
MESH via Orphanet 45 D010245
ICD10 via Orphanet 33 G72.3
UMLS via Orphanet 72 C0030443 C1279412
Orphanet 58 ORPHA206976

Summaries for Periodic Paralysis

KEGG : 36 The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP) and Andersen-Tawil syndrome (ATS) caused by mutations in the calcium-channel, sodium-channel, and potassium-channel genes, respectively.

MalaCards based summary : Periodic Paralysis is related to thyrotoxic periodic paralysis 1 and thyrotoxic periodic paralysis. An important gene associated with Periodic Paralysis is TBC1D24 (TBC1 Domain Family Member 24), and among its related pathways/superpathways are Cholinergic synapse and Circadian entrainment. The drugs Dichlorphenamide and Hops have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, pituitary and cortex, and related phenotype is respiratory system.

Related Diseases for Periodic Paralysis

Diseases in the Periodic Paralysis family:

Familial Periodic Paralysis

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

(show top 50) (show all 246)
# Related Disease Score Top Affiliating Genes
1 thyrotoxic periodic paralysis 1 32.7 KCNJ18 CACNA1S
2 thyrotoxic periodic paralysis 32.2 KCNJ2 KCNJ18 CACNA1S
3 hypokalemic periodic paralysis, type 1 31.7 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
4 hyperkalemic periodic paralysis 31.6 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
5 familial periodic paralysis 31.3 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
6 andersen cardiodysrhythmic periodic paralysis 31.3 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
7 hypokalemia 31.2 SCN4A KCNJ18 CACNA1S
8 graves disease 1 31.1 SCN4A KCNJ18 CACNA1S
9 periodic paralyses 30.9 SCN4A KCNJ2 KCNE3 CACNA1S
10 malignant hyperthermia 30.4 SCN4A CACNA1S
11 paramyotonia congenita of von eulenburg 30.3 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
12 malignant hyperthermia susceptibility 30.0 SCN4A CACNA1S
13 timothy syndrome 29.9 KCNJ2 CACNA1S
14 myotonia congenita 29.7 SCN4A KCNJ2 CACNA1S
15 episodic ataxia 29.6 SCN4A CACNA1S
16 long qt syndrome 29.5 SCN4A KCNJ2 KCNE3
17 congenital myasthenic syndrome 28.8 TBC1D24 SCN4A KCNJ2 CACNA1S
18 brugada syndrome 28.7 SCN4A KCNJ2 KCNE3 CACNA1S
19 thyrotoxic periodic paralysis 2 11.7
20 hypokalemic periodic paralysis, type 2 11.6
21 familial periodic paralyses 11.6
22 normokalemic periodic paralysis 11.5
23 myotonia, potassium-aggravated 11.4
24 thyrotoxic periodic paralysis 3 11.4
25 myopathy 11.2
26 periodic paralysis with transient compartment-like syndrome 11.2
27 periodic paralysis with later-onset distal motor neuropathy 11.2
28 myopathy - thyrotoxic 11.1
29 wolff-parkinson-white syndrome 11.0
30 hyperthyroidism 11.0
31 graves' disease 10.8
32 myotonia 10.7
33 renal tubular acidosis 10.6
34 quadriplegia 10.5
35 goiter 10.5
36 cardiac arrhythmia 10.4
37 distal renal tubular acidosis 10.4
38 hypothyroidism 10.4
39 conn's syndrome 10.4
40 respiratory failure 10.4
41 thyroiditis 10.4
42 tremor 10.4
43 hypophosphatemia 10.4
44 myasthenia gravis 10.3
45 sjogren syndrome 10.3
46 neuromuscular disease 10.3
47 adenoma 10.3
48 hyperinsulinism 10.3
49 metabolic acidosis 10.3
50 guillain-barre syndrome 10.2

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



Diseases related to Periodic Paralysis

Symptoms & Phenotypes for Periodic Paralysis

MGI Mouse Phenotypes related to Periodic Paralysis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

Drugs & Therapeutics for Periodic Paralysis

Drugs for Periodic Paralysis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2 Hops Approved Phase 3
3 Carbonic Anhydrase Inhibitors Phase 3
4
Bumetanide Approved Phase 2 28395-03-1 2471
5 Sodium Potassium Chloride Symporter Inhibitors Phase 2
6 diuretics Phase 2
7 Immunoglobulins
8 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide
2 Dichlorphenamide vs. Placebo for Periodic Paralysis Completed NCT00494507 Phase 3 Dichlorphenamide (double-blind);Placebo (double-blind);Dichlorphenamide (open-label)
3 A Randomised, Double-blind, Placebo-controlled, Phase II Clinical Trial With a Cross-over Design Assessing Efficacy of a Single Dose of Bumetanide in Reducing Focal Attack Severity in Hypokalaemic Periodic Paralysis Assessed Using the McManis Protocol Terminated NCT02582476 Phase 2 Bumetanide;Placebo
4 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis:an Observational Study of Sichuan Individuals in China. Unknown status NCT02287363
5 Genetic Analysis of Thai Patients With Thyrotoxic Periodic Paralysis Completed NCT00443833

Search NIH Clinical Center for Periodic Paralysis

Genetic Tests for Periodic Paralysis

Genetic tests related to Periodic Paralysis:

# Genetic test Affiliating Genes
1 Periodic Paralysis 29

Anatomical Context for Periodic Paralysis

MalaCards organs/tissues related to Periodic Paralysis:

40
Skeletal Muscle, Pituitary, Cortex, Small Intestine, Adrenal Cortex

Publications for Periodic Paralysis

Articles related to Periodic Paralysis:

(show top 50) (show all 2133)
# Title Authors PMID Year
1
Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 54 61
20522878 2010
2
Disruption of the K+ channel beta-subunit KCNE3 reveals an important role in intestinal and tracheal Cl- transport. 61 54
20051516 2010
3
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 61 54
20076800 2009
4
Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle. 61 54
19290024 2009
5
Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene. 54 61
19080124 2008
6
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene. 54 61
18835861 2008
7
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. 54 61
17898326 2008
8
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. 54 61
17324964 2007
9
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. 61 54
17341397 2007
10
An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway. 61 54
17166852 2007
11
The alpha(1S) subunit of the L-type calcium channel is not a predisposition gene for thyrotoxic periodic paralysis. 54 61
17223993 2007
12
Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. 54 61
17211524 2007
13
Hypokalemic paralysis due to Gitelman syndrome: a family study. 54 61
17000984 2006
14
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. 61 54
16571646 2006
15
[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis]. 54 61
16767662 2006
16
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. 61 54
16541386 2006
17
Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). 61 54
16500306 2006
18
[The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis]. 54 61
16681942 2006
19
Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. 61 54
16449802 2006
20
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 54 61
15596759 2004
21
No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients. 54 61
15212652 2004
22
[From gene to diseases; hypokalemic periodic paralysis]. 61 54
15185439 2004
23
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. 54 61
14504341 2003
24
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 54 61
12933953 2003
25
Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. 61 54
12689820 2003
26
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 54 61
12148092 2002
27
Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. 54 61
11309455 2001
28
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. 61 54
11207363 2001
29
A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. 61 54
11118488 2000
30
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. 54 61
10366610 1999
31
[Periodic hypokalemic paralysis disclosing thyrotoxicosis]. 54 61
9793040 1998
32
Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A). 54 61
9703181 1998
33
The skeletal muscle sodium and chloride channel diseases. 54 61
7735894 1995
34
Potassium channels in hypokalaemic periodic paralysis: a key to the pathogenesis? 54 61
8403805 1993
35
Genomic organization of the human skeletal muscle sodium channel gene. 54 61
8385647 1993
36
Functional expression of sodium channel mutations identified in families with periodic paralysis. 61 54
8382500 1993
37
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 54 61
1338909 1992
38
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis. 61
33345742 2021
39
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. 61
33199157 2021
40
Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia - a case report. 61
33602114 2021
41
Transient complete atrioventricular block and ST-segment elevation induced by coronary vasospasm due to iatrogenic hyperkalemia: a case report. 61
33568154 2021
42
Low-dose oral propranolol for treatment of thyrotoxic periodic paralysis with hypokalaemia in the emergency department: A case report. 61
31913531 2021
43
The prevalence of hereditary neuromuscular disorders in Northern Norway. 61
33185984 2021
44
Noninvasive ventilator prevents intubation in thyrotoxic hypokalemic periodic paralysis-associated respiratory failure: A case report and literature review. 61
33505885 2021
45
Andersen-Tawil syndrome presenting as premenstrual periodic paralysis. 61
33094497 2021
46
Andersen-Tawil Syndrome Presenting with Complete Heart Block. 61
33074188 2021
47
Co-Existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants. 61
33389921 2021
48
Thyrotoxic periodic paralysis in an adolescent male: A case report and literature review. 61
33489198 2021
49
Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis. 61
33369085 2020
50
[A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family]. 61
33333687 2020

Variations for Periodic Paralysis

ClinVar genetic disease variations for Periodic Paralysis:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) SNV Pathogenic 183157 rs765965968 16:2548334-2548334 16:2498333-2498333
2 LIPT2 NM_005472.5(KCNE3):c.248G>A (p.Arg83His) SNV Benign 5541 rs17215437 11:74168361-74168361 11:74457316-74457316

Expression for Periodic Paralysis

Search GEO for disease gene expression data for Periodic Paralysis.

Pathways for Periodic Paralysis

Pathways related to Periodic Paralysis according to KEGG:

36
# Name Kegg Source Accession
1 Cholinergic synapse hsa04725

GO Terms for Periodic Paralysis

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.43 TBC1D24 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
2 voltage-gated potassium channel complex GO:0008076 9.16 KCNJ2 KCNE3
3 T-tubule GO:0030315 8.62 KCNJ2 CACNA1S

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

# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.46 KCNJ2 KCNE3
2 muscle contraction GO:0006936 9.43 SCN4A CACNA1S
3 potassium ion transport GO:0006813 9.43 KCNJ2 KCNJ18 KCNE3
4 cardiac conduction GO:0061337 9.4 KCNJ2 CACNA1S
5 potassium ion import across plasma membrane GO:1990573 9.37 KCNJ2 KCNJ18
6 ion transport GO:0006811 9.35 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
7 regulation of heart rate by cardiac conduction GO:0086091 9.32 KCNJ2 KCNE3
8 membrane repolarization during action potential GO:0086011 9.16 KCNJ2 KCNE3
9 regulation of ion transmembrane transport GO:0034765 9.02 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.02 SCN4A KCNJ2 KCNJ18 KCNE3 CACNA1S
2 inward rectifier potassium channel activity GO:0005242 8.96 KCNJ2 KCNJ18

Sources for 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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