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familial cold autoinflammatory syndrome 1 | RareConnect | RareConnect.io

/familial cold autoinflammatory syndrome

/familial cold autoinflammatory syndrome 1

familial cold autoinflammatory syndrome 1

Rare Disease

MONDO:0007349

Also Known As

NLRP3 familial cold autoinflammatory syndromefamilial cold autoinflammatory syndrome 1familial cold autoinflammatory syndrome caused by mutation in NLRP3familial cold autoinflammatory syndrome type 1familial cold inflammatory syndrome 1Cryopyrin-associated periodic syndrome 1FCAS1Fcascold hypersensitivitycold urticaria, familialcold-induced autoinflammatory syndrome, familial

Definition

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:120100 ↗

GARD

Related Diseases

familial cold autoinflammatory syndrome 2

MONDO:0012724

familial cold autoinflammatory syndrome 3

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familial cold autoinflammatory syndrome 4

MONDO:0014498

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