FMF
MCID: FML162
MIFTS: 35

Familial Mediterranean Fever, Ad (FMF) malady

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

Summaries for Familial Mediterranean Fever, Ad

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48OMIM, 34MalaCards
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MalaCards: Familial Mediterranean Fever, Ad, also known as familial mediterranean fever, is related to familial mediterranean fever and amyloidosis, and has symptoms including acute diarrhea, biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp and renal/kidney calcifications/nephrocalcinosis. An important gene associated with Familial Mediterranean Fever, Ad is MEFV (Mediterranean fever). The drug colchicine has been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and bone.

Description from OMIM:48 134610,249100

Aliases & Classifications for Familial Mediterranean Fever, Ad

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50Orphanet, 63UMLS, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
familial mediterranean fever:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

familial mediterranean fever, ad 48
familial mediterranean fever 50 63
familial paroxysmal polyserositis 50
benign recurrent polyserositis 50
benign paroxysmal peritonitis 50
periodic disease 50
fmf 50


External Ids:

MESH via Orphanet37 D010505
ICD10 via Orphanet27 E85.0
SNOMED-CT via Orphanet60 12579009, 307421005
UMLS via Orphanet64 C0031069, C0585274

Related Diseases for Familial Mediterranean Fever, Ad

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18GeneCards, 19GeneDecks
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Diseases in the Familial Mediterranean Fever family:

Familial Mediterranean Fever Type 1 Familial Mediterranean Fever Type 2
Familial Mediterranean Fever, Ar familial mediterranean fever, ad

Diseases related to Familial Mediterranean Fever, Ad via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever11.6
2amyloidosis11.1
3arthritis10.8
4polyarteritis nodosa10.7
5glomerulonephritis10.6
6multiple sclerosis10.6
7spondyloarthropathy10.6
8systemic lupus erythematosus10.5
9lupus erythematosus10.5
10rheumatoid arthritis10.5
11thyroiditis10.5
12colchicine resistance10.5
13crohn's disease10.5
14erysipelas10.5
15vasculitis10.5
16ankylosing spondylitis10.5
17celiac disease10.5
18proteinuria10.5
19spondylitis10.5
20familial mediterranean fever, ar10.5
21atherosclerosis10.4
22enthesopathy10.4
23hepatitis10.4
24peritonitis10.4
25purpura10.4
26familial mediterranean fever type 110.4
27familial mediterranean fever type 210.4
28endotheliitis10.4
29relapsing polychondritis10.3
30fatty liver disease10.3
31takayasu's arteritis10.3
32appendicitis10.3
33ulcerative colitis10.3
34septic arthritis10.3
35rapidly progressive glomerulonephritis10.3
36proliferative glomerulonephritis10.3
37mesangial proliferative glomerulonephritis10.3
38adult-onset still's disease10.3
39esophagitis10.3
40goiter10.3
41inflammatory bowel disease10.3
42liver disease10.3
43myopathy10.3
44myositis10.3
45nephrotic syndrome10.3
46pericarditis10.3
47periodontitis10.3
48sarcoidosis10.3
49hypoaldosteronism10.3
50amyloidosis, secondary10.3

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



Diseases related to familial mediterranean fever, ad

Symptoms for Familial Mediterranean Fever, Ad

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

134610

Clinical features from OMIM:

134610,249100

Symptoms:

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

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS63/NDF-RT42:

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Anatomical Context for Familial Mediterranean Fever, Ad

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34MalaCards
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MalaCards organs/tissues related to Familial Mediterranean Fever, Ad:

34
Testes, Kidney, Bone

Animal Models for Familial Mediterranean Fever, Ad or affiliated genes

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Publications for Familial Mediterranean Fever, Ad

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Variations for Familial Mediterranean Fever, Ad

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Familial Mediterranean Fever, Ad:

65
id Symbol AA change Variation ID SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Met694IleVAR_009061rs28940578
3MEFVp.Met694ValVAR_009062
4MEFVp.His478TyrVAR_028333
5MEFVp.Met680IleVAR_028343rs28940580

Clinvar genetic disease variations for Familial Mediterranean Fever, Ad:

1 (show all 18)
id Gene Name 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 variantPathogenic, Uncertain significancers3743930GRCh37Chr 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 variantPathogenic, Uncertain significancers61732874GRCh37Chr 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.2040G> C (p.Met680Ile)single nucleotide variantPathogenicrs28940580GRCh37Chr 16, 3293447: 3293447

Expression for genes affiliated with Familial Mediterranean Fever, Ad

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Mediterranean Fever, Ad

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Pathways for genes affiliated with Familial Mediterranean Fever, Ad

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Compounds for genes affiliated with Familial Mediterranean Fever, Ad

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GO Terms for genes affiliated with Familial Mediterranean Fever, Ad

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Products for genes affiliated with Familial Mediterranean Fever, Ad

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Mediterranean Fever, Ad

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet