MCID: PSD040
MIFTS: 13

Pseudomyotonia malady

Category: Rare diseases

Aliases & Classifications for Pseudomyotonia

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Aliases & Descriptions for Pseudomyotonia:

Name: Pseudomyotonia 45
 
Isaacs Syndrome 65

Classifications:



External Ids:

UMLS65 C0242287

Summaries for Pseudomyotonia

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MalaCards based summary: Pseudomyotonia, also known as isaacs syndrome, is related to leprosy and wilson disease. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1). Affiliated tissues include heart and endothelial.

Related Diseases for Pseudomyotonia

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1leprosy10.2
2wilson disease10.2
3hemophilia b10.2
4chronic pyelonephritis10.2
5epidural abscess10.2
6pyelonephritis10.2
7thymoma10.2
8neuronitis10.2
9hemophilia10.2
10hansen's disease10.2
11hypereosinophilic syndrome10.2
12neonatal herpes10.2
13dysphagia10.2
14mild hemophilia b10.2

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
Heart, Endothelial

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
Increased expression of CCL4/MIP-1I^ in CD8+ cells and CD4+ cells in sarcoidosis. (25004830)
2014
2
Darbepoetin alfa in systolic heart failure. (23902505)
2013
3
Promyelocytic leukemia protein (PML) regulates endothelial cell network formation and migration in response to tumor necrosis factor alpha (TNFalpha) and interferon alpha (IFNalpha). (22589541)
2012
4
Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. (20687826)
2010
5
Benign necrotizing otitis externa. (19517392)
2009
6
Electrospinning of collagen/biopolymers for regenerative medicine and cardiovascular tissue engineering. (19651166)
2009
7
Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy. (19056609)
2009
8
L-carnitine supplementation in the dialysis population: are Australian patients missing out? (18199095)
2008
9
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
10
The DH and PH domains of Trio coordinately engage Rho GTPases for their efficient activation. (17391702)
2007
11
Hemophagocytic macrophages constitute a major compartment of heme oxygenase expression in sepsis. (17044836)
2006
12
Autoimmune-associated congenital heart block: dissecting the cascade from immunologic insult to relentless fibrosis. (15368347)
2004
13
Lymphomatoid papulosis associated with mycosis fungoides: clinicopathological and molecular studies of 12 cases. (15844638)
2004
14
Cell death and oxidative stress in gliomas. (10476044)
1999
15
Human 5-HT1F receptor-stimulated [35S]GTPgammaS binding: correlation with inhibition of guinea pig dural plasma protein extravasation. (9718276)
1998
16
Stromal-conditioned medium synergizes with thrombopoietin in stimulating megakaryocytopoiesis. (9474749)
1998
17
Hyperinsulinism in patients with coronary artery disease. (7952407)
1994
18
Vasoactive agents and blood pressure regulation in sequential ultrafiltration and hemodialysis. (8294159)
1993
19
Correlation of serum interleukin-6 levels with joint involvement and thrombocytosis in systemic juvenile rheumatoid arthritis. (1930333)
1991

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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GO Terms for genes affiliated with Pseudomyotonia

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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