MCID: PSD040
MIFTS: 14

Pseudomyotonia malady

Rare diseases category
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Summaries for Pseudomyotonia

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MalaCards based summary: Pseudomyotonia, also known as isaacs syndrome, is related to cervicitis and charcot-marie-tooth disease. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1).

Aliases & Classifications for Pseudomyotonia

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Pseudomyotonia, Aliases & Descriptions:

Name: Pseudomyotonia 42
 
Isaacs Syndrome 62


Classifications:

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


Related Diseases for Pseudomyotonia

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

idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.2
2charcot-marie-tooth disease10.0
3spondylosis10.0
4urethritis10.0
5myxedema10.0
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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Drug clinical trials:

Search ClinicalTrials for Pseudomyotonia

Search NIH Clinical Center for Pseudomyotonia

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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Articles related to Pseudomyotonia:

(show all 18)
idTitleAuthorsYear
1
Inhibition of Ubiquitin Proteasome System Rescues the Defective Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) Protein Causing Chianina Cattle Pseudomyotonia. (25288803)
2014
2
Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. (22627047)
2013
3
Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. (23046865)
2012
4
Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. (20547455)
2010
5
A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. (19116366)
2009
6
Congenital pseudomyotonia in Chianina cattle. (18723868)
2008
7
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
8
Decreased conduction velocity and pseudomyotonia in hexachlorobenzene-fed rats. (3596726)
1986
9
Pseudomyotonia of the striated urethral sphincter. (6684176)
1983
10
Neurogenic benign fasciculations, pseudomyotonia, and pseudotetany. A disease in search of a name. (7224912)
1981
11
Pseudomyotonia of the periurethral sphincter in women with urinary incontinence. (574563)
1979
12
Pseudomyotonia and tetany in a familial neuropathy resembling Charcot-Marie-Tooth disease. (757061)
1978
13
Laryngeal spasm complicating pseudomyotonia. (1267697)
1976
14
Hypothyroidism with subacute pseudomyotonia--an early form of Hoffmann's syndrome? Report of a case. (1166819)
1975
15
Cervical spondylosis and pseudomyotonia. (4421040)
1974
16
Pseudomyotonia in cervical root lesions with myelopathy. A sign of the misdirection of regenerating nerve. (4341307)
1972
17
Pseudomyotonia. (4195668)
1970
18
Myxedema, pseudomyotonia, and myotonia congenita. (13570720)
1958

Variations for Pseudomyotonia

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Expression for genes affiliated with Pseudomyotonia

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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

Sources for Pseudomyotonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet