MCID: PRD017
MIFTS: 27

Periodic Paralyses malady

Categories: Genetic diseases

Aliases & Classifications for Periodic Paralyses

Aliases & Descriptions for Periodic Paralyses:

Name: Periodic Paralyses 51

Classifications:



Summaries for Periodic Paralyses

NINDS : 51 Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.

MalaCards based summary : Periodic Paralyses is related to familial periodic paralyses and myotonia. An important gene associated with Periodic Paralyses is KCNJ2 (Potassium Voltage-Gated Channel Subfamily J Member 2), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Lamotrigine and Dichlorphenamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are shRNA abundance <= 50% and digestive/alimentary

Related Diseases for Periodic Paralyses

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



Diseases related to Periodic Paralyses

Symptoms & Phenotypes for Periodic Paralyses

GenomeRNAi Phenotypes related to Periodic Paralyses according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

MGI Mouse Phenotypes related to Periodic Paralyses:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.13 CACNA1S KCNE3 KCNJ2
2 respiratory system MP:0005388 8.8 KCNE3 KCNJ2 SCN4A

Drugs & Therapeutics for Periodic Paralyses

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Dichlorphenamide Approved Phase 3 120-97-8 3038
3 calcium channel blockers Phase 3
4 Sodium Channel Blockers Phase 3
5 Neurotransmitter Agents Phase 3
6 Diuretics, Potassium Sparing Phase 3
7 Excitatory Amino Acid Antagonists Phase 3
8 Excitatory Amino Acids Phase 3
9 Anticonvulsants Phase 3
10 Carbonic Anhydrase Inhibitors Phase 3
11 Calcium, Dietary Phase 3
12 Hops Nutraceutical Phase 3
13
Bumetanide Approved Phase 2 28395-03-1 2471
14 diuretics Phase 2
15 Natriuretic Agents Phase 2
16 Sodium Potassium Chloride Symporter Inhibitors Phase 2
17 calcitonin
18 Immunoglobulins
19 Antibodies

Interventional clinical trials:


id Name Status NCT ID Phase
1 Hyper- and Hypokalemic Periodic Paralysis Study Completed NCT00494507 Phase 3
2 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3
3 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3
4 Bumetanide in Hypokalaemic Periodic Paralysis Active, not recruiting NCT02582476 Phase 2
5 Use of Minocicline in Patients With Stroke Unknown status NCT01556802 Phase 1
6 Genetic Analysis of Thyrotoxic Periodic Paralysis Completed NCT00443833
7 Characteristics of Andersen-Tawil Syndrome Completed NCT00521794
8 A Comparison: High Intense Periodic vs. Every Week Therapy in Children With Cerebral Palsy (ACHIEVE) Recruiting NCT02897024
9 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Active, not recruiting NCT02287363

Search NIH Clinical Center for Periodic Paralyses

Genetic Tests for Periodic Paralyses

Anatomical Context for Periodic Paralyses

MalaCards organs/tissues related to Periodic Paralyses:

39
Skeletal Muscle

Publications for Periodic Paralyses

Articles related to Periodic Paralyses:

(show all 36)
id Title Authors Year
1
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses. ( 27643779 )
2016
2
Dichlorphenamide: A Review in Primary Periodic Paralyses. ( 26941026 )
2016
3
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses. ( 27082780 )
2016
4
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis. ( 25063199 )
2014
5
Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. ( 23802937 )
2013
6
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. ( 24305449 )
2013
7
Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. ( 21687503 )
2011
8
Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. ( 19571750 )
2009
9
Periodic paralyses: when channels go wrong. ( 18281721 )
2008
10
Primary periodic paralyses. ( 18031562 )
2008
11
The primary periodic paralyses: diagnosis, pathogenesis and treatment. ( 16195244 )
2006
12
Paroxysmal muscle weakness: the familial periodic paralyses. ( 17139526 )
2006
13
Correlating phenotype and genotype in the periodic paralyses. ( 15534250 )
2004
14
Patient page. Attacks of immobility caused by diet or exercise? The mystery of periodic paralyses. ( 15534231 )
2004
15
Periodic paralyses and nondystrophic myotonias. ( 11908229 )
2002
16
Sleep complaints in periodic paralyses: a web survey. ( 11769870 )
2001
17
Periodic paralyses. ( 10658175 )
2000
18
Channelopathies: potassium-related periodic paralyses and similar disorders. ( 11235435 )
2000
19
Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. ( 10632100 )
2000
20
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. ( 10720928 )
2000
21
The familial periodic paralyses and nondystrophic myotonias. ( 9688022 )
1998
22
Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. ( 9131654 )
1997
23
Muscle fiber conduction velocity in situ in hypokalemic periodic paralyses. ( 9325474 )
1997
24
Channelopathies: the nondystrophic myotonias and periodic paralyses. ( 8795846 )
1996
25
Periodic paralyses. ( 8771893 )
1996
26
Hereditary nondystrophic myotonias and periodic paralyses. ( 8542048 )
1995
27
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. ( 7689382 )
1993
28
The periodic paralyses. ( 1331137 )
1992
29
Sodium channel gene defects in the periodic paralyses. ( 1330128 )
1992
30
Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? ( 2248848 )
1990
31
The periodic paralyses. ( 3065596 )
1988
32
The myotonic disorders and the periodic paralyses. ( 888733 )
1977
33
A summary review of the diagnosis and pathology of the primary familial periodic paralyses. ( 1094905 )
1975
34
Calcification within muscle fibres in the periodic paralyses. ( 4255134 )
1971
35
Electron microscopic observations in primary hypokalemic and thyrotoxic periodic paralyses. ( 5957594 )
1966
36
THE PERIODIC PARALYSES: DIFFERENTIAL FEATURES AND PATHOLOGICAL OBSERVATIONS IN PERMANENT MYOPATHIC WEAKNESS. ( 14188278 )
1964

Variations for Periodic Paralyses

Expression for Periodic Paralyses

Search GEO for disease gene expression data for Periodic Paralyses.

Pathways for Periodic Paralyses

GO Terms for Periodic Paralyses

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 8.96 KCNE3 KCNJ2
2 T-tubule GO:0030315 8.62 CACNA1S KCNJ2

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.67 CACNA1S KCNE3 KCNJ2 SCN4A
2 potassium ion transport GO:0006813 9.46 KCNE3 KCNJ2
3 potassium ion transmembrane transport GO:0071805 9.43 KCNE3 KCNJ2
4 muscle contraction GO:0006936 9.4 CACNA1S SCN4A
5 cardiac conduction GO:0061337 9.32 CACNA1S KCNJ2
6 regulation of heart rate by cardiac conduction GO:0086091 9.26 KCNE3 KCNJ2
7 ion transport GO:0006811 9.26 CACNA1S KCNE3 KCNJ2 SCN4A
8 membrane depolarization during action potential GO:0086010 9.16 CACNA1S SCN4A
9 regulation of ion transmembrane transport GO:0034765 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.8 CACNA1S KCNJ2 SCN4A

Sources for Periodic Paralyses

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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