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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Narrow down the case reports

Total: 502 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (55.4%)	15884137	Encapsulating peritonitis and familial Mediterranean fever. Dabak R, Uygur-Bayramicli O, Aydin DK, Dolapcioglu C, Gemici C, Erginel T, Turan C, Karadayi N. World J Gastroenterol. 2005;11(18):2844-6. [ Show abstract ] [ Hide abstract ]
		Cholelithiasis Ascites Anemia Hypoalbuminemia


		Cholelithiasis Familial Mediterranean Fever Females Foreign Bodies Homo sapiens Laparoscopy Peritonitis Surgical Instruments
2 (55.1%)	31008521	Orthopedic and orthodontic management in a patient with DiGeorge Syndrome and Familial Mediterranean Fever: A case report. Cazzolla AP, Lacaita MG, Lacarbonara V, Zhurakivska K, De Franco A, Gissi I, Testa NF, Marzo G, Lo Muzio L. Spec Care Dentist. 2019;39(3):340-347. [ Show abstract ] [ Hide abstract ]
		Hepatosplenomegaly Normocytic anemia Fever
		EPO MEFV

		Amyloidosis Child DiGeorge Syndrome Familial Mediterranean Fever Homo sapiens Male Marfan Syndrome Pyrin
2 (55.1%)	28482392	[Three cases with familial Mediterranean fever misdiagnosed as juvenile idiopathic arthritis]. Li J, Zhang Y, Wang W, Zhong LQ, Song HM. Zhonghua Er Ke Za Zhi. 2017;55(5):383-387. [ Show abstract ] [ Hide abstract ]
		Hepatosplenomegaly Anemia Fever

		p\|SUB\|E\|148\|Q;RS#:3743930 p\|SUB\|L\|110\|P;RS#:11466018 p\|SUB\|P\|369\|S;RS#:11466023 p\|SUB\|R\|202\|Q;RS#:224222
		Child Child, Preschool Cytoskeletal Proteins Diagnostic Errors Familial Mediterranean Fever Females Fever Heterozygote Homo sapiens Infant Male Mutation Retrospective Studies
4 (50.6%)	23448320	Colchicine toxicity precipitated by interaction with sunitinib. Abodunde OA, LevakaVeera RR, Desai R, Nweke N, Berrou M. J Clin Pharm Ther. 2013;38(3):243-5. [ Show abstract ] [ Hide abstract ]
		Anemia Acanthocytosis Metabolic acidosis Diarrhea
		ABCB1 CYP3A4

		Aged, 80 and over Angiogenesis Inhibitors Anti-Inflammatory Agents Drug Interactions Homo sapiens Indoles Male Pyrroles
5 (48.8%)	20731114	[Severe disseminated constrictive polyserositis in a patient with rheumatoid arthritis]. Blagova OV, Tsaregorodtsev DA, Nedostup AV, Maevskaia IV, Petukhova NV, Troitskaia MP, Shadaniia IaR. Ter Arkh. 2010;82(6):56-61. [ Show abstract ] [ Hide abstract ]
		Edema Cholestasis Thromboembolism Hepatomegaly


		Differential Diagnosis Electrocardiography Henoch-Schoenlein Purpura Homo sapiens Male Middle Aged Pericarditis, Constrictive Pleurisy Pulmonary Embolism Rheumatoid Arthritis Serositis Severity of Illness Index
6 (46.6%)	14712330	A case of familial Mediterranean fever and polyarteritis nodosa complicated by spontaneous perirenal and subcapsular hepatic hemorrhage requiring multiple arterial embolizations. Akar S, Goktay Y, Akinci B, Tekis D, Biberoglu K, Birlik M, Onen F, Tunca M, Akkoc N. Rheumatol Int. 2005;25(1):60-4. [ Show abstract ] [ Hide abstract ]
		Pallor Anemia Abdominal pain Hypoalbuminemia
		MEFV

		Adult Combination Drug Therapy Embolization, Therapeutic Familial Mediterranean Fever Fatal Outcome Hemorrhage Homo sapiens Kidney Diseases Male Polyarteritis Nodosa
7 (45.6%)	30874249	The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula. Baran M, Cagan Appak Y, Garipcin P, Demircelik Y, Pala EE, Ozyilmaz B, Karakoyun M, Ergun O. Arch Rheumatol. 2018;33(4):473-477. [ Show abstract ] [ Hide abstract ]
		Anemia Fever Diarrhea Perianal abscess
		MEFV TNF


8 (44.2%)	24064022	Macrophage activation syndrome as the initial manifestation of tumour necrosis factor receptor 1-associated periodic syndrome (TRAPS). Horneff G, Rhouma A, Weber C, Lohse P. Clin Exp Rheumatol. 2013;31(3 Suppl 77):99-102. [ Show abstract ] [ Hide abstract ]
		Hepatosplenomegaly Thrombocytopenia Fever

		p\|SUB\|E\|56\|D p\|SUB\|E\|85\|D;RS#:770439546
		Child Combination Drug Therapy DNA Mutational Analysis Females Fever Genetic Predisposition to Disease Hereditary Autoinflammatory Diseases Heredity Homo sapiens Immunosuppressive Agents Macrophage Activation Syndrome Mutation Phenotype
9 (43.7%)	18651363	[Familial Mediterranean fever. Rare manifestation without fever and with inconspicuous family case history]. Vogel Y, Buchner NJ, Haverkamp T, Henning BF. Dtsch Med Wochenschr. 2008;133(31-32):1621-4. [ Show abstract ] [ Hide abstract ]
		Normocytic anemia Fever Abdominal pain
		MEFV
		p\|SUB\|V\|726\|A;RS#:28940579
		Abdominal Pain Adult Differential Diagnosis Familial Mediterranean Fever Gout Suppressants Homo sapiens Male Shoulder Pain Tubulin Modulators
10 (42.9%)	11986465	Late diagnosis of severe colchicine intoxication. Guven AG, Bahat E, Akman S, Artan R, Erol M. Pediatrics. 2002;109(5):971-3. [ Show abstract ] [ Hide abstract ]
		Encephalopathy Anemia Erythema


		Child, Preschool Drug Overdose Familial Mediterranean Fever Females Fever Homo sapiens Neutropenia Pancreatitis

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