Cryopyrin-Associated Periodic Syndrome (CAPS)
Alias:
Cryopyrin-Associated Periodic Syndromes
Cryopyrinopathy
Caps
Nlrp3-Associated Systemic Autoinflammatory Disease
Caps - [cryopyrin-Associated Periodic Syndromes]
Nlrp3-Associated Autoinflammatory Disease
Cryopyrin Associated Periodic Syndrome
Cryopyrinopathies
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Cryopyrin-Associated Periodic Syndrome, also known as cryopyrinopathy, is related to cinca syndrome and familial cold autoinflammatory syndrome 1. An important gene associated with Cryopyrin-Associated Periodic Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Toll-Like receptor Signaling Pathways and IL1 and megakaryocytes in obesity. The drugs Plasminogen and Ambrisentan have been mentioned in the context of this disorder. Affiliated tissues include skin and spinal cord, and related phenotype is Increased shRNA abundance (Z-score > 2).
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
AD
Newborn
1-9/1000000
1
39
74
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References
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IF
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Comparison
Al agent
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