MCID: PRD017
MIFTS: 28

Periodic Paralyses malady

Genetic diseases (common) category
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Summaries for Periodic Paralyses

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Sources:
44NINDS, 65Wikipedia, 33MalaCards
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NINDS:44 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: Periodic Paralyses, also known as familial periodic paralysis, is related to malignant hyperthermia and myotonia. An important gene associated with Periodic Paralyses is KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2), and among its related pathways are Circadian entrainment and Oxytocin signaling pathway. The compounds succinylcholine and dihydropyridine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are muscle and digestive/alimentary.

Wikipedia:65 Periodic paralysis (also known as Myoplegia paroxysmalis familiaris) is a group of rare genetic diseases... more...

Aliases & Classifications for Periodic Paralyses

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62UMLS, 44NINDS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

periodic paralyses 44
familial periodic paralysis 62


Related Diseases for Periodic Paralyses

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Periodic Paralyses:



Diseases related to periodic paralyses

Symptoms for Periodic Paralyses

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Drugs & Therapeutics for Periodic Paralyses

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Periodic Paralyses

Search NIH Clinical Center for Periodic Paralyses

Genetic Tests for Periodic Paralyses

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Anatomical Context for Periodic Paralyses

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33MalaCards
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MalaCards organs/tissues related to Periodic Paralyses:

33
Skeletal muscle

Animal Models for Periodic Paralyses or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Periodic Paralyses:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6CACNA1S, SCN4A, KCNJ2
2MP:00053818.5CACNA1S, KCNE3, KCNJ2

Publications for Periodic Paralyses

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52PubMed
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Articles related to Periodic Paralyses:

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

Variations for Periodic Paralyses

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Periodic Paralyses:

1
id Gene Name Type Significance SNP ID Assembly Location
1KCNJ2NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341

Expression for genes affiliated with Periodic Paralyses

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Periodic Paralyses

Search GEO for disease gene expression data for Periodic Paralyses.

Pathways for genes affiliated with Periodic Paralyses

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50PathCards, 30KEGG, 51PharmGKB, 55Reactome, 12EMD Millipore, 53QIAGEN
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Pathways related to Periodic Paralyses according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4CACNA1S, KCNJ2
2
Show member pathways
9.4KCNJ2, CACNA1S
39.3KCNE3, KCNJ2
4
Show member pathways
9.3KCNE3, KCNJ2
5
Show member pathways
9.1CACNA1S, SCN4A
6
Show member pathways
9.1CACNA1S, SCN4A
7
Show member pathways
9.1CACNA1S, SCN4A
88.8CACNA1S, KCNE3, KCNJ2

Compounds for genes affiliated with Periodic Paralyses

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Sources:
45Novoseek, 51PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Periodic Paralyses according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinylcholine45 51 29 1112.3SCN4A, CACNA1S
2dihydropyridine459.2SCN4A, CACNA1S
3sodium45 2410.1SCN4A, CACNA1S
4histidine459.0SCN4A, CACNA1S
5potassium45 24 1110.6KCNJ2, KCNE3, SCN4A
6arginine458.6KCNJ2, SCN4A, CACNA1S
7calcium45 51 24 1111.3KCNJ2, SCN4A, CACNA1S

GO Terms for genes affiliated with Periodic Paralyses

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16Gene Ontology
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Cellular components related to Periodic Paralyses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.4CACNA1S, KCNJ2

Biological processes related to Periodic Paralyses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.1CACNA1S, SCN4A

Products for genes affiliated with Periodic Paralyses

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Sources for Periodic Paralyses

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet