DISEASES

Disease-gene associations mined from literature

Human genes for autosomal dominant familial periodic fever

Autosomal dominant familial periodic fever [DOID:0090018]

A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.

Synonyms:  autosomal dominant familial periodic fever,  DOID:0090018,  autosomal dominant hereditary periodic fever,  autosomal dominant familial periodic fevers,  TNF receptor 1-associated periodic syndrome ...