Familial Mediterranean fever

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.



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Total: 502 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
432
(5.0%)		 643416
 HLA-B27-negative sacroiliitis: a manifestation of familial Mediterranean fever in childhood.
Lehman TJ, Hanson V, Kornreich H, Peters RS, Schwabe AD.
Pediatrics. 1978;61(3):423-6.
Arthritis
HLA-B
Arthritis Child Familial Mediterranean Fever HLA Antigens Homo sapiens Male
432
(5.0%)		 284274
 Temporomandibular joint synovitis with effusion in familial Mediterranean fever.
Cooksey DE, Girard K.
Oral Surg Oral Med Oral Pathol. 1979;47(2):123-6.
Aspiration
Adult Familial Mediterranean Fever Females Homo sapiens Synovial Fluid Synovitis Temporomandibular Joint
        

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0001945 Fever Very frequent (99-80%)
HP:0002017 Nausea and vomiting Very frequent (99-80%)
HP:0002019 Constipation Very frequent (99-80%)
HP:0002027 Abdominal pain Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0003326 Myalgia Very frequent (99-80%)
HP:0000093 Proteinuria Frequent (79-30%)
HP:0001055 Erysipelas Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001369 Arthritis Frequent (79-30%)
HP:0002014 Diarrhea Frequent (79-30%)
HP:0002102 Pleuritis Frequent (79-30%)
HP:0002745 Oral leukoplakia Frequent (79-30%)
HP:0010783 Erythema Frequent (79-30%)
HP:0100749 Chest pain Frequent (79-30%)
HP:0000100 Nephrotic syndrome Occasional (29-5%)
HP:0000112 Nephropathy Occasional (29-5%)
HP:0000121 Nephrocalcinosis Occasional (29-5%)
HP:0000988 Skin rash Occasional (29-5%)
HP:0001287 Meningitis Occasional (29-5%)
HP:0001541 Ascites Occasional (29-5%)
HP:0001658 Myocardial infarction Occasional (29-5%)
HP:0001701 Pericarditis Occasional (29-5%)
HP:0001733 Pancreatitis Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0002024 Malabsorption Occasional (29-5%)
HP:0002586 Peritonitis Occasional (29-5%)
HP:0002633 Vasculitis Occasional (29-5%)
HP:0002716 Lymphadenopathy Occasional (29-5%)
HP:0002758 Osteoarthritis Occasional (29-5%)
HP:0003565 Elevated erythrocyte sedimentation rate Occasional (29-5%)
HP:0005214 Intestinal obstruction Occasional (29-5%)
HP:0005244 Gastrointestinal infarctions Occasional (29-5%)
HP:0006554 Acute hepatic failure Occasional (29-5%)
HP:0010741 Pedal edema Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)
HP:0100796 Orchitis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 113

HPO ID Term # of case reports
HP:0001945 Fever 108
HP:0001369 Arthritis 49
HP:0045073 Serositis 34
HP:0002027 Abdominal pain 33
HP:0002586 Peritonitis 26
HP:0002102 Pleuritis 16
HP:0003326 Myalgia 13
HP:0001954 Recurrent fever 12
HP:0032323 Periodic fever 11
HP:0001370 Rheumatoid arthritis 10
HP:0001541 Ascites 8
HP:0001701 Pericarditis 8
HP:0000979 Purpura 7
HP:0001055 Erysipelas 7
HP:0000100 Nephrotic syndrome 6
HP:0000853 Goiter 5
HP:0100769 Synovitis 5
HP:0000093 Proteinuria 4
HP:0000112 Nephropathy 4
HP:0000790 Hematuria 4
HP:0001287 Meningitis 4
HP:0000083 Renal insufficiency 3
HP:0000822 Hypertension 3
HP:0000988 Skin rash 3
HP:0003095 Septic arthritis 3
HP:0003198 Myopathy 3
HP:0000099 Glomerulonephritis 2
HP:0001251 Ataxia 2
HP:0001698 Pericardial effusion 2
HP:0001882 Leukopenia 2
HP:0002014 Diarrhea 2
HP:0002094 Dyspnea 2
HP:0002352 Leukoencephalopathy 2
HP:0002583 Colitis 2
HP:0002829 Arthralgia 2
HP:0002907 Microscopic hematuria 2
HP:0005214 Intestinal obstruction 2
HP:0010783 Erythema 2
HP:0012115 Hepatitis 2
HP:0025615 Abscess 2
HP:0030127 Endometriosis 2
HP:0100279 Ulcerative colitis 2
HP:0100749 Chest pain 2
HP:0100820 Glomerulopathy 2
HP:0000027 Azoospermia 1
HP:0000123 Nephritis 1
HP:0000508 Ptosis 1
HP:0000563 Keratoconus 1
HP:0000572 Visual loss 1
HP:0000597 Ophthalmoparesis 1
HP:0000789 Infertility 1
HP:0000793 Membranoproliferative glomerulonephritis 1
HP:0000819 Diabetes mellitus 1
HP:0000821 Hypothyroidism 1
HP:0000836 Hyperthyroidism 1
HP:0000939 Osteoporosis 1
HP:0000952 Jaundice 1
HP:0001025 Urticaria 1
HP:0001045 Vitiligo 1
HP:0001082 Cholecystitis 1
HP:0001250 Seizures 1
HP:0001297 Stroke 1
HP:0001298 Encephalopathy 1
HP:0001300 Parkinsonism 1
HP:0001824 Weight loss 1
HP:0001903 Anemia 1
HP:0001941 Acidosis 1
HP:0002024 Malabsorption 1
HP:0002090 Pneumonia 1
HP:0002153 Hyperkalemia 1
HP:0002157 Azotemia 1
HP:0002315 Headache 1
HP:0002321 Vertigo 1
HP:0002563 Constrictive pericarditis 1
HP:0002580 Volvulus 1
HP:0002664 Neoplasm 1
HP:0002716 Lymphadenopathy 1
HP:0002754 Osteomyelitis 1
HP:0002870 Obstructive sleep apnea 1
HP:0002902 Hyponatremia 1
HP:0002904 Hyperbilirubinemia 1
HP:0003040 Arthropathy 1
HP:0003077 Hyperlipidemia 1
HP:0003201 Rhabdomyolysis 1
HP:0004326 Cachexia 1
HP:0005200 Retroperitoneal fibrosis 1
HP:0006859 Posterior leukoencephalopathy 1
HP:0009741 Nephrosclerosis 1
HP:0010628 Facial palsy 1
HP:0011110 Tonsillitis 1
HP:0011974 Myelofibrosis 1
HP:0012461 Bacteriuria 1
HP:0012490 Panniculitis 1
HP:0012636 Retinal vein occlusion 1
HP:0025439 Pharyngitis 1
HP:0030731 Carcinoma 1
HP:0030838 Hip pain 1
HP:0030995 Peritoneal effusion 1
HP:0031035 Chronic infection 1
HP:0031368 Intestinal perforation 1
HP:0031864 Bacteremia 1
HP:0040154 Acne inversa 1
HP:0040312 Temporomandibular arthritis 1
HP:0100003 Peritoneal mesothelioma 1
HP:0100520 Oliguria 1
HP:0100583 Corneal perforation 1
HP:0100614 Myositis 1
HP:0100646 Thyroiditis 1
HP:0100658 Cellulitis 1
HP:0100726 Kaposi's sarcoma 1
HP:0100750 Atelectasis 1
HP:0100796 Orchitis 1
HP:0200119 Acute hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MEFV MEFV innate immuity regulator, pyrin 4210