Rare Diseases Symptoms Automatic Extraction

Familial Mediterranean fever in Georgia.

[familial mediterranean fever]

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. Carrier rates are known to be particularly high among Sephardic Jews, Turks, Armenians and Arab populations. Our literature survey regarding FMF and MEFV mutations in Georgia revealed a lack of existing studies. We applied multiplex PCR and reverse-hybridization teststrips (FMF StripAssay) to simultaneously analyze twelve common MEFV mutations in DNA samples from dried blood on filter cards, which had been obtained from 202 unselected newborns at various hospitals in Tbilisi, Georgia. We found 30 samples to be heterozygous and one to be compound heterozygous or carrier of a complex allele (two mutations in cis). The carrier rate of MEFV mutations (15.3%) was remarkable. The most frequently observed variants were E148Q (15x), M680I G/C (5x) and M694V (4x). Five other MEFV mutations were found at lower prevalence (V726A, A744S, R761H: 2x each; P369S, F479L: 1x each). Based on these new findings, the awareness for FMF and the availability of appropriate testing should be further promoted in Georgia.

Diseases presenting "fever" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • canavan disease
  • carcinoma of the gallbladder
  • child syndrome
  • congenital toxoplasmosis
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • familial mediterranean fever
  • focal myositis
  • hodgkin lymphoma, classical
  • lamellar ichthyosis
  • legionellosis
  • locked-in syndrome
  • malignant atrophic papulosis
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • wolf-hirschhorn syndrome

This symptom has already been validated