MCID: PSD040

Pseudomyotonia malady

Summaries for Pseudomyotonia

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32MalaCards
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MalaCards: Pseudomyotonia, also known as isaacs syndrome, is related to episodic ataxia and cervicitis. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1).

Aliases & Classifications for Pseudomyotonia

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Sources:
60UMLS, 42NIH Rare Diseases
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Aliases & Descriptions:

pseudomyotonia 42
isaacs syndrome 60


Related Diseases for Pseudomyotonia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Pseudomyotonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia10.4
2cervicitis10.1
3stiff-person syndrome10.0
4chronic polyneuropathy10.0
5demyelinating polyneuropathy10.0
6encephalitis10.0
7polyneuropathy10.0
8urethritis10.0
9spondylosis10.0
10myxedema10.0
11charcot-marie-tooth disease10.0
12hypothyroidism10.0
13laryngitis10.0
14neuropathy10.0
15tooth disease10.0

Graphical network of diseases related to Pseudomyotonia:



Diseases related to pseudomyotonia

Clinical Features for Pseudomyotonia

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Drugs & Therapeutics for Pseudomyotonia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pseudomyotonia

Drug clinical trials:

Search ClinicalTrials for Pseudomyotonia

Search NIH Clinical Center for Pseudomyotonia

Search CenterWatch for Pseudomyotonia

Genetic Tests for Pseudomyotonia

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Anatomical Context for Pseudomyotonia

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Animal Models for Pseudomyotonia or affiliated genes

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Publications for Pseudomyotonia

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Genetic Variations for Pseudomyotonia

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Expression for genes affiliated with Pseudomyotonia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudomyotonia

Search GEO for disease gene expression data for Pseudomyotonia.

Pathways for genes affiliated with Pseudomyotonia

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Compounds for genes affiliated with Pseudomyotonia

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GO Terms for genes affiliated with Pseudomyotonia

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Products for genes affiliated with Pseudomyotonia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudomyotonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet