Aliases & Classifications for Pseudomyotonia

MalaCards integrated aliases for Pseudomyotonia:

Name: Pseudomyotonia 54
Isaacs Syndrome 74

Classifications:



External Ids:

UMLS 74 C0242287

Summaries for Pseudomyotonia

MalaCards based summary : Pseudomyotonia, also known as isaacs syndrome, is related to neuromyotonia and axonal neuropathy, autosomal recessive and kocher-debre-semelaigne syndrome, and has symptoms including muscle weakness, myalgia and myokymia. 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 and skin.

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 neuromyotonia and axonal neuropathy, autosomal recessive 11.1
2 kocher-debre-semelaigne syndrome 11.1
3 myxedema 10.0
4 charcot-marie-tooth disease 10.0
5 tooth disease 10.0
6 hypothyroidism 10.0
7 myotonia congenita 10.0
8 spondylosis 10.0
9 neuropathy 10.0
10 myotonia 10.0
11 atrophic muscular disease 9.6 ATP2A1 ATP2A2
12 brody myopathy 9.5 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:


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

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:

42
Skeletal Muscle, Skin

Publications for Pseudomyotonia

Articles related to Pseudomyotonia:

(show top 50) (show all 80)
# Title Authors Year
1
Peripheral Nerve Block Provides Effective Analgesia for a Patient With Peripheral Nerve Hyperexcitability Syndrome: Isaacs Syndrome Case Report. ( 29894344 )
2018
2
Isaacs syndrome associated with GABAB and AChR antibodies in sarcomatoid carcinoma. ( 30158161 )
2018
3
Isaacs syndrome: A slow potassium channelopathy caused by autoantibodies? ( 29554577 )
2018
4
Repetitive Discharge in a Case of Isaacs Syndrome with Burning Sensation. ( 29709933 )
2018
5
Isaacs' syndrome and Hodgkin lymphoma: a rare association. ( 27509879 )
2017
6
Osteopathic Manipulative Treatment in the Management of Isaacs Syndrome. ( 28241332 )
2017
7
Isaacs syndrome with CASPR2 antibody: A series of three cases. ( 28438465 )
2017
8
Isaacs' syndrome with overlapping myopathy as the first manifestation of AL amyloidosis. ( 27699467 )
2016
9
Acquired hemophilia A associated with myasthenia gravis and Isaacs' syndrome. ( 27653890 )
2016
10
Isaacs' syndrome in a patient with dermatomyositis: case report and review of the literature. ( 27135791 )
2016
11
Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle. ( 27210062 )
2016
12
Endoscopic treatment for esophageal varices complicated by Isaacs' syndrome involving difficulty with conventional sedation. ( 26862027 )
2016
13
Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case. ( 26482047 )
2015
14
Isaacs syndrome: A review. ( 25736532 )
2015
15
Inhibition of Ubiquitin Proteasome System Rescues the Defective Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) Protein Causing Chianina Cattle Pseudomyotonia. ( 25288803 )
2014
16
Isaacs' syndrome in pregnancy. ( 25301428 )
2014
17
Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. ( 22627047 )
2013
18
Anesthetic experience using total intravenous anesthesia in a patient with Isaacs' syndrome -A case report-. ( 23459780 )
2013
19
Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. ( 23046865 )
2012
20
Paraneoplastic Isaacs' syndrome: a case series and review of the literature. ( 22622168 )
2012
21
Dramatic improvement of refractory Isaacs' syndrome after treatment with dronabinol. ( 21144646 )
2011
22
Frostbite-like skin lesion as an autonomic symptom of Isaacs' syndrome. ( 21576838 )
2011
23
Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. ( 20547455 )
2010
24
Serial monitoring of basal metabolic rate for therapeutic evaluation in an Isaacs' syndrome patient with chronic fluctuating symptoms. ( 20190487 )
2010
25
A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. ( 19116366 )
2009
26
Late-onset seropositive Isaacs' syndrome after Guillain-Barré syndrome. ( 19303775 )
2009
27
Isaacs syndrome associated with chronic hepatitis B infection: a case report. ( 19742398 )
2009
28
Serotonin-Norepinephrine Reuptake Inhibitor (SNRI) treatment for Isaacs syndrome with depression. ( 19328218 )
2009
29
Development of Isaacs' syndrome following complete recovery of voltage-gated potassium channel antibody-associated limbic encephalitis. ( 18801496 )
2008
30
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
31
Congenital pseudomyotonia in Chianina cattle. ( 18723868 )
2008
32
Isaacs syndrome. ( 18949953 )
2008
33
[Case of Isaacs' syndrome associated with Hashimoto disease]. ( 18095500 )
2007
34
Thymoma in the offspring of a patient with Isaacs syndrome. ( 17984702 )
2007
35
Finger flexion resembling focal dystonia in Isaacs' syndrome. ( 16337423 )
2006
36
Isaacs' syndrome associated with myasthenia gravis, showing remission after cytoreductive surgery of pleural recurrence of thymoma. ( 16934467 )
2006
37
Isaacs' syndrome: clinical and electrophysiological response to gabapentin. ( 16770779 )
2006
38
Acquired neuromyotonia (Isaacs' syndrome): a case report with autonomic physiologic studies. ( 17048446 )
2006
39
Isaacs' syndrome (autoimmune neuromyotonia) in a patient with systemic lupus erythematosus. ( 15801039 )
2005
40
[Isaacs' syndrome, stiff person syndrome and Satoyoshi disease: pathomechanisms and treatment]. ( 15651297 )
2004
41
Isaacs' syndrome as a potassium channelopathy of the nerve. ( 12116286 )
2002
42
Isaacs' syndrome successfully treated by immunoadsorption plasmapheresis. ( 11071114 )
2000
43
Case report: acute urinary retention secondary to Isaacs' syndrome. ( 10081950 )
1999
44
Reversible F-wave hyperexcitability associated with antibodies to potassium channels in Isaacs' syndrome. ( 10209357 )
1999
45
A case of Isaacs' syndrome with associated central nervous system findings. ( 9324093 )
1997
46
Systemic juvenile rheumatoid arthritis and associated Isaacs' syndrome. ( 9002031 )
1997
47
Antibodies to potassium channels of PC12 in serum of Isaacs' syndrome: Western blot and immunohistochemical studies. ( 9052808 )
1997
48
Peripartum management of a patient with Isaacs' syndrome. ( 9398957 )
1997
49
Propofol anesthesia in a patient with Isaacs syndrome--report of a case and literature review. ( 9553241 )
1997
50
Autoimmune neuromyotonia (Isaacs' syndrome): an antibody-mediated potassium channelopathy. ( 9616766 )
1997

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
12.16 ATP2A1 ATP2A2
5
Show member pathways
11.99 ATP2A1 ATP2A2
6
Show member pathways
11.86 ATP2A1 ATP2A2
7 11.81 ATP2A1 ATP2A2
8 11.72 ATP2A1 ATP2A2
9
Show member pathways
11.68 ATP2A1 ATP2A2
10 11.64 ATP2A1 ATP2A2
11
Show member pathways
11.42 ATP2A1 ATP2A2
12 11.25 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 9.48 ATP2A1 ATP2A2
2 ion transmembrane transport GO:0034220 9.46 ATP2A1 ATP2A2
3 calcium ion transport GO:0006816 9.43 ATP2A1 ATP2A2
4 calcium ion transmembrane transport GO:0070588 9.4 ATP2A1 ATP2A2
5 proton transmembrane transport GO:1902600 9.37 ATP2A1 ATP2A2
6 cellular calcium ion homeostasis GO:0006874 9.32 ATP2A1 ATP2A2
7 response to endoplasmic reticulum stress GO:0034976 9.26 ATP2A1 ATP2A2
8 regulation of cardiac conduction GO:1903779 9.16 ATP2A1 ATP2A2
9 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.96 ATP2A1 ATP2A2
10 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 9.16 ATP2A1 ATP2A2
2 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 8.96 ATP2A1 ATP2A2
3 calcium-transporting ATPase activity GO:0005388 8.62 ATP2A1 ATP2A2

Sources for Pseudomyotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....