autosomal dominant familial periodic fever

Term ID

DOID:0090018

Synonyms

• familial Hibernian fever
• FHF
• FPF
• hibernian fever
• TNF receptor associated periodic syndrome
• TRAPS
• tumor necrosis factor receptor associated periodic syndrome

Definition

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. (3)

References

• GARD:8457
• ICD10CM:E85.0
• OMIM:142680
• ORDO:32960

Ontology

Human Disease   ( DOID:0090018 )