MCID: PRD017
MIFTS: 20

Periodic Paralyses malady

Genetic diseases category

Summaries for Periodic Paralyses

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Sources:
43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.

MalaCards: Periodic Paralyses, also known as familial periodic paralysis, is related to hypokalemic periodic paralysis and malignant hyperthermia susceptibility. An important gene associated with Periodic Paralyses is KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2), and among its related pathways are Circadian entrainment and Potassium Channels. The compounds dihydropyridine and histidine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are muscle and digestive/alimentary.

Wikipedia:63 Periodic paralysis (also known as Myoplegia paroxysmalis familiaris) is a group of rare genetic diseases... more...

Aliases & Classifications for Periodic Paralyses

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60UMLS, 43NINDS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

periodic paralyses 43
familial periodic paralysis 60


Related Diseases for Periodic Paralyses

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Periodic Paralyses:



Diseases related to periodic paralyses

Clinical Features for Periodic Paralyses

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Drugs & Therapeutics for Periodic Paralyses

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

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Drug clinical trials:

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Genetic Tests for Periodic Paralyses

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Anatomical Context for Periodic Paralyses

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32MalaCards
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MalaCards organs/tissues related to Periodic Paralyses:

32
Skeletal muscle

Animal Models for Periodic Paralyses or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Periodic Paralyses:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6SCN4A, CACNA1S, KCNJ2
2MP:00053818.5CACNA1S, KCNJ2, KCNE3

Publications for Periodic Paralyses

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Genetic Variations for Periodic Paralyses

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Expression for genes affiliated with Periodic Paralyses

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

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Pathways for genes affiliated with Periodic Paralyses

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Sources:
29KEGG, 53Reactome, 49PharmGKB, 51QIAGEN
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Compounds for genes affiliated with Periodic Paralyses

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Periodic Paralyses according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydropyridine449.1SCN4A, CACNA1S
2histidine449.1SCN4A, CACNA1S
3potassium44 11 2410.4SCN4A, KCNJ2, KCNE3
4arginine448.3KCNJ2, CACNA1S, SCN4A

GO Terms for genes affiliated with Periodic Paralyses

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16Gene Ontology
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Biological processes related to Periodic Paralyses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.1SCN4A, CACNA1S

Products for genes affiliated with Periodic Paralyses

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Periodic Paralyses

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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