familial Mediterranean fever, autosomal dominant

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familial Mediterranean fever, autosomal dominant

An autosomal dominant condition (OMIM:134610) characterised by periodic fever, serosal inflammation and pain in the abdomen, chest or joints (as seen in the autosomal recessive form of FMF) which is associated with renal amyloidosis and characterised by colchicine unresponsiveness.

Molecular pathology
Defects in MEFV cause both the autosomal dominant and autosomal recessive forms of Familial Mediterranean fever.
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References in periodicals archive ?
Trojer et al., "Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration," Rheumatology, vol.
Lachmann et al., "The genetic basis of autosomal dominant familial Mediterranean fever," Oxford Journals Medicine, vol.

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