MCID: PSD040
MIFTS: 26

Pseudomyotonia malady

Category: Rare diseases

Aliases & Classifications for Pseudomyotonia

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Aliases & Descriptions for Pseudomyotonia:

Name: Pseudomyotonia 47
 
Isaacs Syndrome 67

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, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 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
1cervicitis9.8
2charcot-marie-tooth disease9.7
3tooth disease9.7
4myxedema9.7
5urethritis9.7
6hypothyroidism9.7
7spondylosis9.7
8laryngitis9.7
9neuropathy9.7
10myotonia9.7
11fanconi anemia, complementation group n9.5ATP2A1, ATP2A2
12pseudo-turner syndrome9.3ATP2A1, ATP2A2

Graphical network of diseases related to Pseudomyotonia:



Diseases related to pseudomyotonia

Symptoms for Pseudomyotonia

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UMLS symptoms related to Pseudomyotonia:


muscular fasciculation, muscle cramp, muscle rigidity, muscle spasticity, neuralgia, spasm, chills, muscle weakness, muscular stiffness, myalgia, rectal tenesmus, psoas sign, diaphragmatic paresis, myokymia, muscle fibrosis, trendelenburg's symptom, uvular spasm, neuromuscular pain

Drugs & Therapeutics for Pseudomyotonia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Inherited Myokymia: A Clinical and Genetic Study of a FamilyUnknown statusNCT01250704
2Screening and Natural History: Primary Lateral Sclerosis and Related DisordersActive, not recruitingNCT00015444

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:

35
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 20)
idTitleAuthorsYear
1
Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle. (27210062)
2016
2
Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case. (26482047)
2015
3
Inhibition of Ubiquitin Proteasome System Rescues the Defective Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) Protein Causing Chianina Cattle Pseudomyotonia. (25288803)
2014
4
Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. (22627047)
2013
5
Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. (23046865)
2012
6
Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. (20547455)
2010
7
A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. (19116366)
2009
8
Congenital pseudomyotonia in Chianina cattle. (18723868)
2008
9
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
10
Decreased conduction velocity and pseudomyotonia in hexachlorobenzene-fed rats. (3596726)
1986
11
Pseudomyotonia of the striated urethral sphincter. (6684176)
1983
12
Neurogenic benign fasciculations, pseudomyotonia, and pseudotetany. A disease in search of a name. (7224912)
1981
13
Pseudomyotonia of the periurethral sphincter in women with urinary incontinence. (574563)
1979
14
Pseudomyotonia and tetany in a familial neuropathy resembling Charcot-Marie-Tooth disease. (757061)
1978
15
Laryngeal spasm complicating pseudomyotonia. (1267697)
1976
16
Hypothyroidism with subacute pseudomyotonia--an early form of Hoffmann's syndrome? Report of a case. (1166819)
1975
17
Cervical spondylosis and pseudomyotonia. (4421040)
1974
18
Pseudomyotonia in cervical root lesions with myelopathy. A sign of the misdirection of regenerating nerve. (4341307)
1972
19
Pseudomyotonia. (4195668)
1970
20
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 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ATP2A1, ATP2A2
2
Show member pathways
9.1ATP2A1, ATP2A2
3
Show member pathways
9.1ATP2A1, ATP2A2
4
Show member pathways
9.1ATP2A1, ATP2A2
5
Show member pathways
9.1ATP2A1, ATP2A2
6
Show member pathways
9.1ATP2A1, ATP2A2
79.1ATP2A1, ATP2A2
89.1ATP2A1, ATP2A2
99.1ATP2A1, ATP2A2
109.1ATP2A1, ATP2A2
119.1ATP2A1, ATP2A2
12
Show member pathways
9.1ATP2A1, ATP2A2
13
Show member pathways
9.1ATP2A1, ATP2A2
149.1ATP2A1, ATP2A2
159.1ATP2A1, 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:00310959.1ATP2A1, ATP2A2
2sarcoplasmic reticulumGO:00165299.0ATP2A1, ATP2A2
3sarcoplasmic reticulum membraneGO:00330178.8ATP2A1, ATP2A2

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of endoplasmic reticulum calcium ion concentrationGO:00324709.7ATP2A1, ATP2A2
2calcium ion transportGO:00068169.4ATP2A1, ATP2A2
3calcium ion transmembrane transportGO:00705889.3ATP2A1, ATP2A2
4regulation of cardiac conductionGO:19037799.1ATP2A1, ATP2A2
5response to endoplasmic reticulum stressGO:00349769.1ATP2A1, ATP2A2
6ion transmembrane transportGO:00342208.8ATP2A1, ATP2A2

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

idNameGO IDScoreTop Affiliating Genes
1calcium-transporting ATPase activityGO:00053889.7ATP2A1, ATP2A2
2calcium ion bindingGO:00055099.1ATP2A1, ATP2A2

Sources for Pseudomyotonia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet