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GTR Home > Conditions/Phenotypes > Familial cold autoinflammatory syndrome 2

Familial cold autoinflammatory syndrome 2

Summary

Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes. Additional features may include abdominal pain, thoracic pain, and sensorineural deafness. The age at onset is variable, ranging from the first year of life to middle age, and the severity and clinical manifestations are heterogeneous (summary by Shen et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100). [from OMIM]

Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLR19.3, FCAS2, NALP12, PAN6, PYPAF7, RNO, RNO2, NLRP12
    Summary: NLR family pyrin domain containing 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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