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GTR Home > Conditions/Phenotypes > Familial cold autoinflammatory syndrome 4

Familial cold autoinflammatory syndrome 4

Summary

Patients with familial cold autoinflammatory syndrome-4 (FCAS4) have onset in infancy of high fever, urticarial-like rash without itching, and arthralgia induced by exposure to cold (Kitamura et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100). [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIFEC, CARD12, CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, FCAS4, IPAF, NLRC4
    Summary: NLR family CARD domain containing 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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