MCID: PSD040
MIFTS: 14

Pseudomyotonia malady

Rare diseases category

Summaries for Pseudomyotonia

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34MalaCards
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MalaCards: Pseudomyotonia, also known as isaacs syndrome, is related to cervicitis and urethritis. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1).

Aliases & Classifications for Pseudomyotonia

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63UMLS, 44NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

pseudomyotonia 44
isaacs syndrome 63


Related Diseases for Pseudomyotonia

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18GeneCards, 19GeneDecks
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Diseases related to Pseudomyotonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.2
2urethritis10.0
3spondylosis10.0
4myxedema10.0
5charcot-marie-tooth disease10.0
6hypothyroidism10.0
7laryngitis10.0
8neuropathy10.0
9tooth disease10.0
10myotonia10.0

Graphical network of diseases related to Pseudomyotonia:



Diseases related to pseudomyotonia

Symptoms for Pseudomyotonia

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Drugs & Therapeutics for Pseudomyotonia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pseudomyotonia

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Anatomical Context for Pseudomyotonia

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Animal Models for Pseudomyotonia or affiliated genes

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Publications for Pseudomyotonia

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53PubMed
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Articles related to Pseudomyotonia:

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

Variations for Pseudomyotonia

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Expression for genes affiliated with Pseudomyotonia

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2BioGPS, 16Gene 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

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Compounds for genes affiliated with Pseudomyotonia

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GO Terms for genes affiliated with Pseudomyotonia

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Products for genes affiliated with Pseudomyotonia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudomyotonia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet