Familial Cold Autoinflammatory Syndrome 2 (FCAS2)

Alias:
Fcas2
Nlrp12-Associated Hereditary Periodic Fever Syndrome
Familial Cold Autoinflammatory Syndrome Type 2
Familial Cold Autoinflammatory Syndrome 2, Susceptibility to
Familial Cold-Induced Autoinflammatory Syndrome Type 2
Autoinflammatory Syndrome, Cold, Familial, Type 2
Naps12
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Cold Autoinflammatory Syndrome 2, also known as fcas2, is related to familial cold autoinflammatory syndrome 1 and familial cold autoinflammatory syndrome. An important gene associated with Familial Cold Autoinflammatory Syndrome 2 is NLRP12 (NLR Family Pyrin Domain Containing 12), and among its related pathways/superpathways are Nucleotide-binding oligomerization domain (NOD) pathway and Deregulation of Rab and Rab effector genes in bladder cancer. Affiliated tissues include skin and bone, and related phenotypes are elevated circulating c-reactive protein concentration and elevated erythrocyte sedimentation rate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
12
121
6

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

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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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