Aliases & Classifications for Pseudomyotonia

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Aliases & Descriptions for Pseudomyotonia:

Name: Pseudomyotonia 45
 
Isaacs Syndrome 65


Classifications:



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), and among its related pathways are Ion channel transport and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include skeletal muscle.

Related Diseases for Pseudomyotonia

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.2
2charcot-marie-tooth disease10.1
3spondylosis10.1
4urethritis10.1
5myxedema10.1
6hypothyroidism10.1
7laryngitis10.1
8neuropathy10.1
9tooth disease10.1
10myotonia10.1
11major affective disorder 49.8ATP2A1, ATP2A2
12pseudopapilledema blepharophimosis hand anomalies9.7ATP2A1, ATP2A2

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Inherited Myokymia: A Clinical and Genetic Study of a FamilyRecruitingNCT01250704
2Screening and Natural History: Primary Lateral Sclerosis and Related DisordersRecruitingNCT00015444

Search NIH Clinical Center for Pseudomyotonia

Genetic Tests for Pseudomyotonia

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Anatomical Context for Pseudomyotonia

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MalaCards organs/tissues related to Pseudomyotonia:

33
Skeletal muscle

Animal Models for Pseudomyotonia or affiliated genes

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Publications for Pseudomyotonia

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Articles related to Pseudomyotonia:

(show all 19)
idTitleAuthorsYear
1
Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case. (26482047)
2015
2
Inhibition of Ubiquitin Proteasome System Rescues the Defective Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) Protein Causing Chianina Cattle Pseudomyotonia. (25288803)
2014
3
Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. (22627047)
2013
4
Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. (23046865)
2012
5
Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. (20547455)
2010
6
A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. (19116366)
2009
7
Congenital pseudomyotonia in Chianina cattle. (18723868)
2008
8
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
9
Decreased conduction velocity and pseudomyotonia in hexachlorobenzene-fed rats. (3596726)
1986
10
Pseudomyotonia of the striated urethral sphincter. (6684176)
1983
11
Neurogenic benign fasciculations, pseudomyotonia, and pseudotetany. A disease in search of a name. (7224912)
1981
12
Pseudomyotonia of the periurethral sphincter in women with urinary incontinence. (574563)
1979
13
Pseudomyotonia and tetany in a familial neuropathy resembling Charcot-Marie-Tooth disease. (757061)
1978
14
Laryngeal spasm complicating pseudomyotonia. (1267697)
1976
15
Hypothyroidism with subacute pseudomyotonia--an early form of Hoffmann's syndrome? Report of a case. (1166819)
1975
16
Cervical spondylosis and pseudomyotonia. (4421040)
1974
17
Pseudomyotonia in cervical root lesions with myelopathy. A sign of the misdirection of regenerating nerve. (4341307)
1972
18
Pseudomyotonia. (4195668)
1970
19
Myxedema, pseudomyotonia, and myotonia congenita. (13570720)
1958

Variations for Pseudomyotonia

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Expression for genes affiliated with Pseudomyotonia

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Search GEO for disease gene expression data for Pseudomyotonia.

Pathways for genes affiliated with Pseudomyotonia

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Pathways related to Pseudomyotonia according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ATP2A1, ATP2A2
2
Show member pathways
9.1ATP2A1, ATP2A2
39.1ATP2A1, ATP2A2
4
Show member pathways
9.1ATP2A1, ATP2A2
5
Show member pathways
9.1ATP2A1, ATP2A2
6
Show member pathways
9.1ATP2A1, ATP2A2
7
Show member pathways
9.1ATP2A1, ATP2A2
8
Show member pathways
9.1ATP2A1, ATP2A2
99.1ATP2A1, ATP2A2
109.1ATP2A1, ATP2A2
119.1ATP2A1, ATP2A2
129.1ATP2A1, ATP2A2
139.1ATP2A1, ATP2A2
149.1ATP2A1, ATP2A2
15
Show member pathways
9.1ATP2A1, ATP2A2
169.1ATP2A1, ATP2A2

GO Terms for genes affiliated with Pseudomyotonia

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Cellular components related to Pseudomyotonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet dense tubular network membraneGO:00310959.5ATP2A1, ATP2A2
2sarcoplasmic reticulum membraneGO:00330179.4ATP2A1, ATP2A2
3sarcoplasmic reticulumGO:00165299.4ATP2A1, ATP2A2
4perinuclear region of cytoplasmGO:00484719.1ATP2A1, ATP2A2

Biological processes related to Pseudomyotonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of endoplasmic reticulum calcium ion concentrationGO:00324709.8ATP2A1, ATP2A2
2ion transmembrane transportGO:00342209.4ATP2A1, ATP2A2
3calcium ion transportGO:00068169.4ATP2A1, ATP2A2
4response to endoplasmic reticulum stressGO:00349769.4ATP2A1, ATP2A2
5calcium ion transmembrane transportGO:00705889.3ATP2A1, ATP2A2
6blood coagulationGO:00075969.1ATP2A1, ATP2A2

Molecular functions related to Pseudomyotonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium-transporting ATPase activityGO:00053889.6ATP2A1, ATP2A2
2nucleotide bindingGO:00001669.3ATP2A1, ATP2A2
3calcium ion bindingGO:00055099.1ATP2A1, ATP2A2

Sources for Pseudomyotonia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet