MCID: FML161
MIFTS: 51

Familial Mediterranean Fever, Ar malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Blood diseases categories

Summaries for Familial Mediterranean Fever, Ar

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MedlinePlus:32 A fever is a body temperature that is higher than normal. it is not an illness. it is part of your body's defense against infection. most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 f). a slight fever can make it harder for them to survive. fever also activates your body's immune system. infections cause most fevers. there can be many other causes, including medicines heat exhaustion cancers autoimmune diseases treatment depends on the cause of your fever. your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. adults can also take aspirin, but children with fevers should not take aspirin. it is also important to drink enough liquids to prevent dehydration.

MalaCards based summary: Familial Mediterranean Fever, Ar, also known as familial mediterranean fever, is related to hemorrhagic fever and spotted fever, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Familial Mediterranean Fever, Ar is MEFV (Mediterranean fever). The drug colchicine has been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and brain.

Disease Ontology:9 A hypersensitivity reaction type ii disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the mefv gene, which encodes the protein pyrin.

Genetics Home Reference:21 Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort.

NIH Rare Diseases:41 Familial mediterranean fever (fmf) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis),  lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). these episodes are often accompanied by fever and sometimes a characteristic ankle rash. the first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. between attacks, people often do not have any symptoms. without treatment, fmf can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). fmf is usually inherited in an autosomal recessive fashion and is caused by mutations in the mefv gene. last updated: 6/29/2012

OMIM:45 Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and... (249100) more...

GeneReviews summary for fmf

Aliases & Classifications for Familial Mediterranean Fever, Ar

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 63Wikipedia, 20GeneTests, 22GTR, 32MedlinePlus, 33MeSH, 27ICD9CM, 38NCIt, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Familial Mediterranean Fever, Ar, Aliases & Descriptions:

Name: Familial Mediterranean Fever, Ar 45 10
Familial Mediterranean Fever 45 9 19 41 21 11 43 47 60
Benign Paroxysmal Peritonitis 9 63 41 21 47
Familial Paroxysmal Polyserositis 63 41 21 47
Recurrent Polyserositis 63 19 41 21
Fmf 63 41 21 47
Mediterranean Fever, Familial 63 20 22
Periodic Disease 63 41 47
Benign Recurrent Polyserositis 41 47
Wolff Periodic Disease 63 21
 
Periodic Peritonitis 63 41
Periodic Fever 41 60
Fever 63 32
Hereditary Autoinflammatory Diseases 60
Hereditary Periodic Fever Syndromes 43
Hereditary Periodic Fever Syndrome 63
Siegal-Cattan-Mamou Disease 21
Reimann Periodic Disease 21
Mef 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial mediterranean fever:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy


External Ids:

OMIM45 249100
Disease Ontology9 DOID:2987
MeSH33 D010505
ICD9CM27 277.31
NCIt38 C84707
SNOMED-CT55 12579009
Orphanet47 342
MESH via Orphanet34 D010505
ICD10 via Orphanet26 E85.0
UMLS via Orphanet61 C0031069, C0585274

Related Diseases for Familial Mediterranean Fever, Ar

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Diseases in the Familial Mediterranean Fever, Ar family:

Familial Mediterranean Fever, Ad Familial Mediterranean Fever Type 1
Familial Mediterranean Fever Type 2

Diseases related to Familial Mediterranean Fever, Ar via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 1070)
idRelated DiseaseScoreTop Affiliating Genes
1hemorrhagic fever11.3
2spotted fever11.2
3amyloidosis11.1
4q fever11.1
5typhoid fever11.1
6yellow fever11.1
7rift valley fever11.1
8rocky mountain spotted fever11.1
9scarlet fever11.0
10relapsing fever11.0
11dengue hemorrhagic fever11.0
12crimean-congo hemorrhagic fever11.0
13hemorrhagic fever with renal syndrome11.0
14lassa fever10.9
15arthritis10.8
16paratyphoid fever10.8
17colorado tick fever10.8
18rat bite fever10.8
19typhus10.7
20polyarteritis nodosa10.7
21tick-borne relapsing fever10.7
22mediterranean spotted fever10.7
23blackwater fever10.7
24argentine hemorrhagic fever10.7
25ebola hemorrhagic fever10.7
26glomerulonephritis10.6
27endocarditis10.6
28rheumatic heart disease10.6
29colchicine resistance10.6
30thrombocytopenia10.6
31west nile fever10.6
32chikungunya10.6
33trench fever10.6
34boutonneuse fever10.6
35louse-borne relapsing fever10.6
36systemic lupus erythematosus10.6
37crohn's disease10.6
38lupus erythematosus10.6
39spondyloarthropathy10.6
40viral hemorrhagic fever10.6
41marburg hemorrhagic fever10.6
42african tick-bite fever10.6
43encephalitis10.6
44rheumatoid arthritis10.6
45familial mediterranean fever, ad10.6
46erysipelas10.6
47thyroiditis10.6
48vasculitis10.6
49malaria10.6
50dengue shock syndrome10.6

Graphical network of the top 20 diseases related to Familial Mediterranean Fever, Ar:



Diseases related to familial mediterranean fever, ar

Symptoms for Familial Mediterranean Fever, Ar

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Symptoms by clinical synopsis from OMIM:

249100

Clinical features from OMIM:

249100

Symptoms:

 47 (show all 39)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • constipation
  • myalgia/muscular pain
  • articular/joint pain/arthralgia
  • autosomal recessive inheritance
  • fever/chilling
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • erysipela
  • enanthema/aphtosa/aphta/leukoplakia
  • acute diarrhea
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • thoracic/chest pain
  • proteinuria
  • seizures/epilepsy/absences/spasms/status epilepticus
  • arthritis/synovitis/synovial proliferation
  • cutaneous rash
  • ascitis
  • malabsorption/chronic diarrhea/steatorrhea
  • intestinal obstruction/ileus
  • acute hepatic failure
  • pancreatitis
  • splenomegaly
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • cardiac rhythm disorder/arrhythmia
  • angor pectoris/myocardial infarction
  • edema of the legs/lower limbs
  • vascularitis/vasculitides/arteritis
  • acute ischemic syndrome
  • mesenteric/intestinal infarction
  • lymphadenopathy/polyadenopathies
  • renal disease/nephropathy
  • renal/kidney calcifications/nephrocalcinosis
  • nephrotic syndrome
  • testes inflammation/orchitis
  • meningitis/meningeal syndrome
  • motor deficit/trouble
  • osteoarthritis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp

HPO human phenotypes related to Familial Mediterranean Fever, Ar:

(show all 49)
id Description Frequency HPO Source Accession
1 nausea and vomiting hallmark (90%) HP:0002017
2 constipation hallmark (90%) HP:0002019
3 abdominal pain hallmark (90%) HP:0002027
4 arthralgia hallmark (90%) HP:0002829
5 myalgia hallmark (90%) HP:0003326
6 abnormality of temperature regulation hallmark (90%) HP:0004370
7 proteinuria typical (50%) HP:0000093
8 abnormality of the oral cavity typical (50%) HP:0000163
9 erysipelas typical (50%) HP:0001055
10 seizures typical (50%) HP:0001250
11 diarrhea typical (50%) HP:0002014
12 abnormality of the pleura typical (50%) HP:0002103
13 chest pain typical (50%) HP:0100749
14 nephrotic syndrome occasional (7.5%) HP:0000100
15 nephropathy occasional (7.5%) HP:0000112
16 nephrocalcinosis occasional (7.5%) HP:0000121
17 skin rash occasional (7.5%) HP:0000988
18 meningitis occasional (7.5%) HP:0001287
19 ascites occasional (7.5%) HP:0001541
20 coronary artery disease occasional (7.5%) HP:0001677
21 abnormality of the pericardium occasional (7.5%) HP:0001697
22 pancreatitis occasional (7.5%) HP:0001733
23 splenomegaly occasional (7.5%) HP:0001744
24 malabsorption occasional (7.5%) HP:0002024
25 vasculitis occasional (7.5%) HP:0002633
26 lymphadenopathy occasional (7.5%) HP:0002716
27 osteoarthritis occasional (7.5%) HP:0002758
28 intestinal obstruction occasional (7.5%) HP:0005214
29 gastrointestinal infarctions occasional (7.5%) HP:0005244
30 acute hepatic failure occasional (7.5%) HP:0006554
31 edema of the lower limbs occasional (7.5%) HP:0010741
32 arrhythmia occasional (7.5%) HP:0011675
33 orchitis occasional (7.5%) HP:0100796
34 autosomal recessive inheritance HP:0000007
35 renal insufficiency HP:0000083
36 nephrotic syndrome HP:0000100
37 meningitis HP:0001287
38 arthritis HP:0001369
39 pericarditis HP:0001701
40 splenomegaly HP:0001744
41 renal amyloidosis HP:0001917
42 episodic fever HP:0001954
43 leukocytosis HP:0001974
44 abdominal pain HP:0002027
45 pleuritis HP:0002102
46 hepatomegaly HP:0002240
47 peritonitis HP:0002586
48 arthralgia HP:0002829
49 elevated erythrocyte sedimentation rate HP:0003565

Drugs & Therapeutics for Familial Mediterranean Fever, Ar

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Drug clinical trials:

Search ClinicalTrials for Familial Mediterranean Fever, Ar

Search NIH Clinical Center for Familial Mediterranean Fever, Ar

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Familial Mediterranean Fever, Ar

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Genetic tests related to Familial Mediterranean Fever, Ar:

id Genetic test Affiliating Genes
1 Familial Mediterranean Fever20 22 MEFV

Anatomical Context for Familial Mediterranean Fever, Ar

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MalaCards organs/tissues related to Familial Mediterranean Fever, Ar:

31
Lung, Kidney, Brain, Spinal cord, Heart, Bone, Skin, Testes, Liver

Animal Models for Familial Mediterranean Fever, Ar or affiliated genes

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Publications for Familial Mediterranean Fever, Ar

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Articles related to Familial Mediterranean Fever, Ar:

idTitleAuthorsYear
1
Nonalcoholic fatty liver disease and familial Mediterranean fever: are they related? (23289274)
2012

Variations for Familial Mediterranean Fever, Ar

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UniProtKB/Swiss-Prot genetic disease variations for Familial Mediterranean Fever, Ar:

62 (show all 43)
id Symbol AA change Variation ID SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Glu167AspVAR_009052
3MEFVp.Thr267IleVAR_009054rs104895081
4MEFVp.Pro369SerVAR_009055rs11466023
5MEFVp.Arg408GlnVAR_009056rs11466024
6MEFVp.Phe479LeuVAR_009057
7MEFVp.Thr681IleVAR_009059
8MEFVp.Met694IleVAR_009061rs28940578
9MEFVp.Met694ValVAR_009062
10MEFVp.Lys695ArgVAR_009064rs104895094
11MEFVp.Val726AlaVAR_009065rs28940579
12MEFVp.Arg761HisVAR_009067
13MEFVp.Leu110ProVAR_016824rs11466018
14MEFVp.Glu230LysVAR_016826rs104895080
15MEFVp.Arg653HisVAR_016828
16MEFVp.Ser675AsnVAR_016829
17MEFVp.Met680LeuVAR_016830
18MEFVp.Arg42TrpVAR_028326rs61754767
19MEFVp.Ser108ArgVAR_028327
20MEFVp.Glu148ValVAR_028328
21MEFVp.Glu163AlaVAR_028329
22MEFVp.Thr177IleVAR_028330
23MEFVp.Glu319LysVAR_028331
24MEFVp.Glu474LysVAR_028332
25MEFVp.Gly632SerVAR_028335
26MEFVp.Ile640MetVAR_028336
27MEFVp.Ile641PheVAR_028337
28MEFVp.Pro646LeuVAR_028338
29MEFVp.Leu649ProVAR_028339
30MEFVp.Glu656AlaVAR_028340
31MEFVp.Asp661AsnVAR_028341
32MEFVp.Gly678GluVAR_028342
33MEFVp.Met680IleVAR_028343rs28940580
34MEFVp.Tyr688CysVAR_028344
35MEFVp.Met694LeuVAR_028345
36MEFVp.Lys695MetVAR_028346rs104895094
37MEFVp.Val704IleVAR_028348
38MEFVp.Pro705SerVAR_028349
39MEFVp.Ile720MetVAR_028350
40MEFVp.Phe743LeuVAR_028351
41MEFVp.Pro758SerVAR_028352
42MEFVp.Pro780ThrVAR_028353
43MEFVp.Met694LysVAR_070798

Clinvar genetic disease variations for Familial Mediterranean Fever, Ar:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1MEFVNM_000243.2(MEFV): c.2080A> G (p.Met694Val)single nucleotide variantPathogenicrs61752717GRCh37Chr 16, 3293407: 3293407
2MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
3MEFVNM_000243.2(MEFV): c.2177T> C (p.Val726Ala)single nucleotide variantPathogenicrs28940579GRCh37Chr 16, 3293310: 3293310
4MEFVNM_000243.2(MEFV): c.442G> C (p.Glu148Gln)single nucleotide variantPathogenicrs3743930GRCh37Chr 16, 3304626: 3304626
5MEFVNM_000243.2(MEFV): c.501G> C (p.Glu167Asp)single nucleotide variantPathogenicrs104895079GRCh37Chr 16, 3304567: 3304567
6MEFVNM_000243.2(MEFV): c.800C> T (p.Thr267Ile)single nucleotide variantPathogenicrs104895081GRCh37Chr 16, 3304268: 3304268
7MEFVNM_000243.2(MEFV): c.1437C> G (p.Phe479Leu)single nucleotide variantPathogenicrs104895083GRCh37Chr 16, 3297166: 3297166
8MEFVNM_000243.2(MEFV): c.2074_2076delATA (p.Ile692del)deletionPathogenicrs121907890GRCh37Chr 16, 3293411: 3293413
9MEFVNM_000243.2(MEFV): c.2084A> G (p.Lys695Arg)single nucleotide variantPathogenicrs104895094GRCh37Chr 16, 3293403: 3293403
10MEFVNM_000243.2(MEFV): c.2230G> T (p.Ala744Ser)single nucleotide variantPathogenicrs61732874GRCh37Chr 16, 3293257: 3293257
11MEFVNM_000243.2(MEFV): c.2282G> A (p.Arg761His)single nucleotide variantPathogenicrs104895097GRCh37Chr 16, 3293205: 3293205
12MEFVNM_000243.2(MEFV): c.2040G> A (p.Met680Ile)single nucleotide variantPathogenicrs28940580GRCh37Chr 16, 3293447: 3293447
13MEFVNM_000243.2(MEFV): c.1958G> A (p.Arg653His)single nucleotide variantPathogenicrs104895085GRCh37Chr 16, 3293529: 3293529
14MEFVNM_000243.2(MEFV): c.443A> T (p.Glu148Val)single nucleotide variantLikely pathogenic, Pathogenicrs104895076GRCh37Chr 16, 3304625: 3304625
15MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
16MEFVMEFV, 3-BP DEL, 2080ATGdeletionPathogenic
17MEFVNM_000243.2(MEFV): c.1432C> T (p.His478Tyr)single nucleotide variantPathogenicrs104895105GRCh37Chr 16, 3297171: 3297171
18MEFVNM_000243.2(MEFV): c.1016C> T (p.Ser339Phe)single nucleotide variantLikely pathogenicrs104895157GRCh37Chr 16, 3299675: 3299675
19MEFVNM_000243.2(MEFV): c.1318C> G (p.Gln440Glu)single nucleotide variantLikely pathogenicrs11466026GRCh37Chr 16, 3298947: 3298947
20MEFVNM_000243.2(MEFV): c.2040G> C (p.Met680Ile)single nucleotide variantPathogenicrs28940580GRCh37Chr 16, 3293447: 3293447
21MEFVNM_000243.2(MEFV): c.941G> A (p.Arg314His)single nucleotide variantLikely pathogenicrs104895204GRCh37Chr 16, 3299750: 3299750

Expression for genes affiliated with Familial Mediterranean Fever, Ar

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Search GEO for disease gene expression data for Familial Mediterranean Fever, Ar.

Pathways for genes affiliated with Familial Mediterranean Fever, Ar

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Compounds for genes affiliated with Familial Mediterranean Fever, Ar

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GO Terms for genes affiliated with Familial Mediterranean Fever, Ar

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Products for genes affiliated with Familial Mediterranean Fever, Ar

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Sources for Familial Mediterranean Fever, Ar

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet