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GTR Home > Conditions/Phenotypes > Periodic fever-infantile enterocolitis-autoinflammatory syndrome

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

Synonyms
Autoinflammation with infantile enterocolitis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 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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