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.

Click here to know more about Mendelian.

Incidence and onset information

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

  • NICOSIA — Pr Leonidas PHYLACTOU

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • 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


  • 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

    • 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)


  • PARIS — Pr Serge AMSELEM

    Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratory

    • 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


  • PARIS — Dr Sophie GEORGIN-LAVIALLE

    Investigator of research project - Manager of registry

    • 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



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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 %

We have 79 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE; SPG57 GLYCEROL KINASE DEFICIENCY; GKD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more