Familial Cold Autoinflammatory Syndrome 3 (FCAS3)

Alias:
Familial Atypical Cold Urticaria
Plaid
Facu
Fcas3
Antibody Deficiency and Immune Dysregulation, Plcg2-Associated
Plcg2-Associated Antibody Deficiency and Immune Dysregulation
Familial Cold Urticaria with Common Variable Immunodeficiency
Antibody Deficiency and Immune Dysregulation Placg2-Associated
Plcg2 Associated Antibody Deficiency and Immune Dysregulation
Autoinflammatory Syndrome, Cold, Familial, Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Cold Autoinflammatory Syndrome 3, also known as familial atypical cold urticaria, is related to familial cold autoinflammatory syndrome and familial mediterranean fever. An important gene associated with Familial Cold Autoinflammatory Syndrome 3 is PLCG2 (Phospholipase C Gamma 2). The drugs Lisinopril and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and b cells, and related phenotypes are erythema and pruritus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
8
87
2

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
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
Journal
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IF
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