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disease: Familial mediterranean fever, autosomal dominant

id1274
nameFamilial mediterranean fever, autosomal dominant
descriptionFamilial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
variant-disease NM_000243.2(MEFV):c.2081_2083delTGA (p.Met694del) AND Familial mediterranean fever, autosomal dominant
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) AND Familial mediterranean fever, autosomal dominant
NM_000243.2(MEFV):c.[442G>C;2082G>A] AND Familial mediterranean fever, autosomal dominant
NM_000243.2(MEFV):c.1432C>T (p.His478Tyr) AND Familial mediterranean fever, autosomal dominant
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) AND Familial mediterranean fever, autosomal dominant
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