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Phenotype profile

familial Mediterranean fever

SaudiVarKB evidence summary derived from retained literature mentions.

32Phenotype mentions
32Publications
4Associated gene records
11Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
MEFVHGNC:69981212
COL7A1HGNC:221411
LACC1HGNC:2678911
CAPSHGNC:148711

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
M694VM694V66
E148QE148Q44
V726AV726A44
M694IM694I22
M680IM680I22
c.2230G>Tc.2230G>T11
p.Ala744Serp.Ala744Ser11
rs61732874rs6173287411
R761HR761H11
S242RS242R11
M94VM94V11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 4044
Population record11
Saudi Arabia · RiyadhCohort 1411
Population recordCohort 1211
Population recordCohort 21011
Saudi ArabiaCohort 2911
Population recordCohort 11011
Population recordCohort 24911
Population recordCohort 92411
Population recordCohort 3311
Population recordCohort 14411
Population recordCohort 8511
Population recordCohort 51111

Supporting publications

32 records
  1. 2025Hyperimmunoglobulinemia D Syndrome Masquerading as Familial Mediterranean Fever, Hidradenitis Suppurativa, and Crohn's Disease: A Case Report.Saudi journal of medicine & medical sciences1 mentions
  2. 2025Serum resistin levels in pediatric familial Mediterranean fever: Potential biomarker for inflammatory activity.World journal of clinical pediatrics1 mentions
  3. 2025Immunogenetics of Behçet's disease: Is there a link to recent phenotypic changes?Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
  4. 2024Validation of the PEDiatric Behçet's Disease classification criteria: an evidence-based approach.Rheumatology (Oxford, England)1 mentions
  5. 2023Autoinflammatory gene mutations associated with eosinophilia and asthma.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology1 mentions
  6. 2023Macrophage activation syndrome induced by Staphylococcus Epidermidis in a pediatric patient with cystic fibrosis and familial Mediterranean fever.Saudi medical journal1 mentions
  7. 2020Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).Rheumatology international1 mentions
  8. 2020Familial mediterranean fever and immunoglobulin A nephropathy: A case report and review of the literature.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  9. 2020MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.Annals of human genetics1 mentions
  10. 2020Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review.Insights into imaging1 mentions
  11. 2019Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.Annals of Saudi medicine1 mentions
  12. 2019Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  13. 2018In silico validation of the Autoinflammatory Disease Damage Index.Annals of the rheumatic diseases1 mentions
  14. 2017Development of the autoinflammatory disease damage index (ADDI).Annals of the rheumatic diseases1 mentions
  15. 2017Familial Mediterranean fever, review of the literature.Clinical rheumatology1 mentions
  16. 2017Multiple Myeloma in a Patient With Familial Mediterranean Fever.Iranian journal of kidney diseases1 mentions
  17. 2016Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.Science translational medicine1 mentions
  18. 2015A brief history of familial Mediterranean fever.Saudi medical journal1 mentions
  19. 2015The relationship between red cell distribution width and homozygous M694V mutation in familial Mediterranean fever patients.Annals of Saudi medicine1 mentions
  20. 2013Incidence and clinical outcome of renal amyloidosis: a retrospective study.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  21. 2012A retrospective review of autoinflammatory diseases in Saudi children at a rheumatology clinic.Annals of Saudi medicine1 mentions
  22. 2012A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.Annals of Saudi medicine1 mentions
  23. 2009Amyloid goiter: two cases and a review of the literature.Annals of Saudi medicine1 mentions
  24. 2007Childhood Henoch Schonlein purpura in Middle East countries.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  25. 2006Remission of nephrotic syndrome in amyloidosis of familial Mediterranean fever following colchicine treatment.Annals of Saudi medicine1 mentions
  26. 2006Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.Saudi medical journal1 mentions
  27. 2005Genetic screening of familial Mediterranean fever mutations in the Palestinian population.Saudi medical journal1 mentions
  28. 2003Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.Saudi medical journal1 mentions
  29. 2003Familial mediterranean Fever and renal disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  30. 2001Familial Mediterranean Fever.Saudi medical journal1 mentions
  31. 1997A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.Genomics1 mentions
  32. 1994Autosomal recessive disorders among Arabs: an overview from Kuwait.Journal of medical genetics1 mentions