Aliases & Classifications for Pseudomyotonia

MalaCards integrated aliases for Pseudomyotonia:

Name: Pseudomyotonia 49
Isaacs Syndrome 69

Classifications:



External Ids:

UMLS 69 C0242287

Summaries for Pseudomyotonia

MalaCards based summary : Pseudomyotonia, also known as isaacs syndrome, is related to cervicitis and myxedema, and has symptoms including myokymia, myalgia and muscular stiffness. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1), and among its related pathways/superpathways are Signaling by NOTCH1 and Cardiac conduction. Affiliated tissues include skeletal muscle.

Related Diseases for Pseudomyotonia

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cervicitis 10.0
2 myxedema 9.8
3 charcot-marie-tooth disease 9.8
4 tooth disease 9.8
5 urethritis 9.8
6 hypothyroidism 9.8
7 myotonia congenita 9.8
8 spondylosis 9.8
9 laryngitis 9.8
10 neuropathy 9.8
11 myotonia 9.8
12 brody myopathy 9.4 ATP2A1 ATP2A2

Graphical network of the top 20 diseases related to Pseudomyotonia:



Diseases related to Pseudomyotonia

Symptoms & Phenotypes for Pseudomyotonia

UMLS symptoms related to Pseudomyotonia:


myokymia, myalgia, muscular stiffness, muscle weakness, neuralgia, muscle spasticity, muscle rigidity, muscle cramp, muscular fasciculation

Drugs & Therapeutics for Pseudomyotonia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704
2 Screening and Natural History: Primary Lateral Sclerosis and Related Disorders Active, not recruiting NCT00015444

Search NIH Clinical Center for Pseudomyotonia

Genetic Tests for Pseudomyotonia

Anatomical Context for Pseudomyotonia

MalaCards organs/tissues related to Pseudomyotonia:

38
Skeletal Muscle

Publications for Pseudomyotonia

Articles related to Pseudomyotonia:

(show all 20)
# Title Authors Year
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

Expression for Pseudomyotonia

Search GEO for disease gene expression data for Pseudomyotonia.

Pathways for Pseudomyotonia

Pathways related to Pseudomyotonia according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 ATP2A1 ATP2A2
2
Show member pathways
12.26 ATP2A1 ATP2A2
3
Show member pathways
12.22 ATP2A1 ATP2A2
4
Show member pathways
12.15 ATP2A1 ATP2A2
5
Show member pathways
11.99 ATP2A1 ATP2A2
6
Show member pathways
11.86 ATP2A1 ATP2A2
7 11.81 ATP2A1 ATP2A2
8 11.71 ATP2A1 ATP2A2
9
Show member pathways
11.68 ATP2A1 ATP2A2
10
Show member pathways
11.64 ATP2A1 ATP2A2
11
Show member pathways
11.42 ATP2A1 ATP2A2
12 11.24 ATP2A1 ATP2A2
13 10.92 ATP2A1 ATP2A2
14 10.7 ATP2A1 ATP2A2
15 9.7 ATP2A1 ATP2A2

GO Terms for Pseudomyotonia

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

# Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum GO:0016529 9.16 ATP2A1 ATP2A2
2 sarcoplasmic reticulum membrane GO:0033017 8.96 ATP2A1 ATP2A2
3 platelet dense tubular network membrane GO:0031095 8.62 ATP2A1 ATP2A2

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.43 ATP2A1 ATP2A2
2 ion transmembrane transport GO:0034220 9.4 ATP2A1 ATP2A2
3 calcium ion transport GO:0006816 9.37 ATP2A1 ATP2A2
4 calcium ion transmembrane transport GO:0070588 9.32 ATP2A1 ATP2A2
5 response to endoplasmic reticulum stress GO:0034976 9.26 ATP2A1 ATP2A2
6 regulation of cardiac conduction GO:1903779 9.16 ATP2A1 ATP2A2
7 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.96 ATP2A1 ATP2A2
8 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 8.62 ATP2A1 ATP2A2

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.96 ATP2A1 ATP2A2
2 calcium-transporting ATPase activity GO:0005388 8.62 ATP2A1 ATP2A2

Sources for Pseudomyotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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