MCID: PSD040
MIFTS: 13

Pseudomyotonia malady

Summaries for Pseudomyotonia

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33MalaCards
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MalaCards: Pseudomyotonia, also known as isaacs syndrome, is related to episodic ataxia and myokymia. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1).

Aliases & Classifications for Pseudomyotonia

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

pseudomyotonia 43
isaacs syndrome 61


Related Diseases for Pseudomyotonia

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17GeneCards, 18GeneDecks
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Diseases related to Pseudomyotonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia10.4
2myokymia10.2
3stiff-person syndrome10.1
4chronic inflammatory demyelinating polyneuropathy10.1
5focal dystonia10.1
6satoyoshi syndrome10.1
7limbic encephalitis10.1
8spondylosis10.0
9myxedema10.0
10tooth disease10.0
11myotonia10.0

Graphical network of diseases related to Pseudomyotonia:



Diseases related to pseudomyotonia

Clinical Features for Pseudomyotonia

Drugs & Therapeutics for Pseudomyotonia

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Pseudomyotonia

Anatomical Context for Pseudomyotonia

Animal Models for Pseudomyotonia or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Pseudomyotonia

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51PubMed
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Articles related to Pseudomyotonia:

(show all 17)
idTitleAuthorsYear
1
Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. (22627047)
2013
2
Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. (23046865)
2012
3
Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. (20547455)
2010
4
A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. (19116366)
2009
5
Congenital pseudomyotonia in Chianina cattle. (18723868)
2008
6
Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. (18786632)
2008
7
Decreased conduction velocity and pseudomyotonia in hexachlorobenzene-fed rats. (3596726)
1986
8
Pseudomyotonia of the striated urethral sphincter. (6684176)
1983
9
Neurogenic benign fasciculations, pseudomyotonia, and pseudotetany. A disease in search of a name. (7224912)
1981
10
Pseudomyotonia of the periurethral sphincter in women with urinary incontinence. (574563)
1979
11
Pseudomyotonia and tetany in a familial neuropathy resembling Charcot-Marie-Tooth disease. (757061)
1978
12
Laryngeal spasm complicating pseudomyotonia. (1267697)
1976
13
Hypothyroidism with subacute pseudomyotonia--an early form of Hoffmann's syndrome? Report of a case. (1166819)
1975
14
Cervical spondylosis and pseudomyotonia. (4421040)
1974
15
Pseudomyotonia in cervical root lesions with myelopathy. A sign of the misdirection of regenerating nerve. (4341307)
1972
16
Pseudomyotonia. (4195668)
1970
17
Myxedema, pseudomyotonia, and myotonia congenita. (13570720)
1958

Genetic Variations for Pseudomyotonia

Expression for genes affiliated with Pseudomyotonia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudomyotonia

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Pathways for genes affiliated with Pseudomyotonia

Compounds for genes affiliated with Pseudomyotonia

GO Terms for genes affiliated with Pseudomyotonia

Products for genes affiliated with Pseudomyotonia

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Sources for Pseudomyotonia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet