Familial Cold Autoinflammatory Syndrome 1 (FCAS1)

Alias:
Familial Cold Urticaria
Cold Hypersensitivity
Fcas
Fcu
Cold-Induced Autoinflammatory Syndrome, Familial
Cryopyrin-Associated Periodic Syndrome 1
Familial Cold Autoinflammatory Syndrome
Fcas1
Caps1
Autoinflammatory Syndrome, Cold, Familial, Type 1
Familial Cold-Induced Autoinflammatory Syndrome
Familial Cold Inflammatory Syndrome 1
Cold Urticaria, Familial
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Cold Autoinflammatory Syndrome 1, also known as familial cold urticaria, is related to cryopyrin-associated periodic syndrome and familial cold autoinflammatory syndrome 2. An important gene associated with Familial Cold Autoinflammatory Syndrome 1 is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Innate Immune System and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions. The drugs Ginseng and Calcium polycarbophil have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are hyperhidrosis and arthritis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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10
132
20

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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