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GENATLAS PHENOTYPE
last update : 16-02-2009
Symbol TRAPS
Location 12p13.2
Name tumor necrosis receptor-associated periodic syndrome
Other name(s)
  • hibernian fever, familial
  • periodic fever, familial
    • Corresponding gene TNFRSF1A
    Other symbol(s) FPF, FHF
    Main clinical features
  • onset before 20 years
  • conjunctivitis and periorbital edema, abdominal pain, frequent myalgy, spenomegaly, migratory cellulitis-like processes with localized myositis and low levels of a soluble form of TNFR1 between attacks and impaired cytokine receptor (TNFR1) clearance, Hibernian fever, not responsive to colchicine and not associated with amyloidosis
  • 'periodic disease' characterized by recurrent attacks of fever, abdominal pain, localized tender skin lesions, and myalgia, pleurisy, leukocytosis, and high erythrocyte sedimentation rate were other features with a benign course
  • potential renal amylosis
    • Genetic determination autosomal dominant
    Related entries including autosomal dominant periodic fever-like syndrome with amyloidosis
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name tumor necrosis factor receptor superfamily member 1A
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation C70R and C70Y disrupting one of the three disulphide bonds in cysteine-rich domain 2 of TNF receptor 1
    Remark(s)