A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene.

Annotation

a specific disease entity: do not use entry term PERIODIC DISEASE for periodically occurring disease (= PERIODICITY (IM) + disease (IM))

DUI

D010505 MeSH Browser

CUI

M0016320

History note

2000 (1966)

Public note

2000; see PERIODIC DISEASE 1966-1999; for FAMILIAL MEDITERRANEAN FEVER see PERIODIC DISEASE 1966-1999