Familial Mediterranean Fever
Description
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
Clinical Features
Top most frequent phenotypes and symptoms related to Familial Mediterranean Fever
- Seizures
- Pain
- Anemia
- Hepatomegaly
- Fever
- Diarrhea
- Splenomegaly
- Renal insufficiency
- Headache
- Arrhythmia
And another 59 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Familial Mediterranean Fever Is also known as benign paroxysmal peritonitis, familial paroxysmal polyserositis, benign recurrent polyserositis, polyserositis, familial paroxysmal, fmf, periodic disease, familial mediterranean fever, autosomal recessive, polyserositis, recurrent.
Researches and researchers
Doctors, researchs, and experts related to Familial Mediterranean Fever extracted from public data.
Familial Mediterranean Fever Experts map
Current Researchs and researchers
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NICOSIA — Pr Leonidas PHYLACTOU
Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department
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Institution/s:
— The Cyprus Institute of Neurology and Genetics -
Research area/topic::
Genetic investigation of Familial Mediterranean Fever in Cypritot patients with hereditary reccurent fevers
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Institution/s:
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MONTPELLIER — Pr Isabelle TOUITOU
Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory
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Institution/s:
— Département Génétique Médicale, Maladies rares et médecine personnalisée, CHRU de Montpellier - Hôpital Arnaud de Villeneuve
— Institut de Médecine Régénérative et Biothérapies, CHU de Montpellier - Hôpital Saint-Eloi -
Research area/topic::
International study group for phenotype-genotype correlation of FMF (FINISHED)
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Institution/s:
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PARIS — Pr Serge AMSELEM
Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratory
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Institution/s:
— Service de Génétique et d'Embryologie Médicales, CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
— UF de Génétique clinique et moléculaire, CHU Paris Est - Hôpital d'Enfants Armand-Trousseau -
Research area/topic::
FMFgeneToDiag : Familial Mediterranean Fever (FMF) and FMF-like diseases: From genetics to functional diagnostic tests - FR
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Institution/s:
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PARIS — Dr Sophie GEORGIN-LAVIALLE
Investigator of research project - Manager of registry
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Institution/s:
— UF de Génétique clinique et moléculaire, CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
— Groupe Hospitalier APHP.6 - Sorbonne Université- Hôpital Tenon -
Research area/topic::
INFLAMAST: Study of mast cell involvment in autoinflammatory diseases
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Institution/s:
Familial Mediterranean Fever Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Familial Mediterranean Fever.
By Center for Human Genetics, Inc (United States).
MEFV
Specificity
100 %
Genes
100 % |
MEFV Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
MEFV
Specificity
100 %
Genes
100 % |
MEFV Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
MEFV
Specificity
100 %
Genes
100 % |
Familial Mediterranean fever.
By Molecular Genetics Columbia University (United States).
MEFV
Specificity
100 %
Genes
100 % |
MEFV.
By Institute for Human Genetics University Clinic Freiburg (Germany).
MEFV
Specificity
100 %
Genes
100 % |
Familial Mediterranean Fever (MEFV) Sequencing.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
MEFV
Specificity
100 %
Genes
100 % |
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
TNFRSF1A, LPIN2, NLRP3, ELANE, MEFV, MVK, PSTPIP1
Specificity
15 %
Genes
100 % |
MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
TNFRSF1A, NLRP3, MEFV, MVK
Specificity
25 %
Genes
100 % |
You can get up to 79 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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