FMF
MCID: FML162
MIFTS: 32

Familial Mediterranean Fever, Ad (FMF) malady

Nephrological, Bone, Blood, Genetic categories

Summaries for Familial Mediterranean Fever, Ad

Sources:
47OMIM, 33MalaCards
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MalaCards: Familial Mediterranean Fever, Ad, also known as familial mediterranean fever, is related to amyloidosis and familial mediterranean fever, ar, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, acute abdominal pain/colic and constipation. 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.

Description from OMIM:47 134610,249100

Aliases & Classifications for Familial Mediterranean Fever, Ad

Sources:
49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Bone, Blood


Characteristics (Orphanet epidemiological data):

49
familial mediterranean fever:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

familial mediterranean fever, ad 47
familial mediterranean fever 49 61
familial paroxysmal polyserositis 49
benign recurrent polyserositis 49
benign paroxysmal peritonitis 49
periodic disease 49
fmf 49


External Ids:

MESH via Orphanet36 D010505
ICD10 via Orphanet26 E85.0
SNOMED-CT via Orphanet58 12579009, 307421005
UMLS via Orphanet62 C0031069, C0585274

Related Diseases for Familial Mediterranean Fever, Ad

Sources:
17GeneCards, 18GeneDecks
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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 102)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis11.1
2familial mediterranean fever, ar11.0
3amyloidosis, renal10.8
4arthritis10.8
5polyarteritis nodosa10.7
6q fever10.6
7spondyloarthropathy10.6
8amyloidosis, secondary10.6
9systemic lupus erythematosus10.5
10periodic fever, familial10.5
11erysipelas10.5
12vasculitis10.5
13ankylosing spondylitis10.4
14spondylitis10.4
15atherosclerosis10.4
16al amyloidosis10.4
17familial mediterranean fever type 110.4
18familial mediterranean fever type 210.4
19crohn's disease10.3
20relapsing polychondritis10.3
21familial nephrotic syndrome10.3
22rapidly progressive glomerulonephritis10.3
23proliferative glomerulonephritis10.3
24mesangial proliferative glomerulonephritis10.3
25appendicitis10.3
26whipple disease10.3
27ulcerative colitis10.3
28septic arthritis10.3
29adult-onset still's disease10.3
30thyroiditis10.3
31hypoaldosteronism10.3
32atopy10.3
33leukopenia10.3
34crescentic glomerulonephritis10.1
35niemann-pick disease10.1
36membranous glomerulonephritis10.1
37acute pancreatitis10.1
38cryoglobulinemia10.1
39gilbert syndrome10.1
40rheumatic fever10.1
41reflex sympathetic dystrophy10.1
42rubinstein-taybi syndrome10.1
43pseudotumor cerebri10.1
44gitelman syndrome10.1
45aseptic meningitis10.1
46psoriatic arthritis10.1
47transthyretin amyloidosis10.1
48nail-patella syndrome10.1
49palindromic rheumatism10.1
50osteoarthritis10.1

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



Diseases related to familial mediterranean fever, ad

Clinical Features for Familial Mediterranean Fever, Ad

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

134610,249100

Clinical synopsis from OMIM:

134610

Symptoms:

49 (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

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Familial Mediterranean Fever, Ad

Anatomical Context for Familial Mediterranean Fever, Ad

Animal Models for Familial Mediterranean Fever, Ad or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Mediterranean Fever, Ad

Sources:
51PubMed
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Articles related to Familial Mediterranean Fever, Ad:

(show all 28)
idTitleAuthorsYear
1
Quality of life in adult patients with Familial Mediterranean fever living in Germany or Turkey compared to healthy subjects: a study evaluating the effect of disease severity and country of residence. (23274441)
2013
2
Disease severity in adult patients of Turkish ancestry with familial mediterranean fever living in Germany or Turkey. Does the country of residence affect the course of the disease? (23872541)
2013
3
Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents. (23505237)
2013
4
Down-regulation of adiponectin in patients with familial Mediterranean fever during attack-free period. (21877244)
2012
5
Is there a real adrenal axis dysfunction in patients with amyloidosis associated with familial Mediterranean fever? (22057137)
2012
6
Pharmacokinetics of colchicine in pediatric and adult patients with familial Mediterranean fever. (23298502)
2012
7
Familial Mediterranean fever: the first adult case in Korea. (23166428)
2012
8
Psychological correlates of child and adolescents with familial Mediterranean fever. (20358207)
2011
9
The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome. (20828792)
2011
10
Pitfalls in familial mediterranean fever: acute intestinal strangulation/obstruction due to primary adhesions. (21723803)
2011
11
Depression and anxiety in children and adolescents with familial Mediterranean fever. (20033242)
2010
12
Acute adrenal crisis mimicking familial Mediterranean fever attack in a renal transplant FMF patient with amyloid goiter. (19711078)
2010
13
Isolated recurrent pleuritis revealing familial mediterranean Fever in adulthood. (20051664)
2010
14
Increased prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with familial mediterranean fever. (20533539)
2010
15
Serum adiponectin levels in patients with familial Mediterranean fever. (20518740)
2010
16
Serum adenosine deaminase activities during acute attacks and attack-free periods of familial Mediterranean fever. (19237091)
2009
17
Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. (18801759)
2009
18
Intravenous colchicine treatment for six months: adjunctive therapy in familial Mediterranean fever (FMF) unresponsive to oral colchicine. (19796546)
2009
19
Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. (19466978)
2009
20
Decreased bone mineral density in adult familial Mediterranean fever patients: a pilot study. (18553115)
2008
21
Circulating adrenomedullin levels in ankylosing spondylitis and Familial Mediterranean Fever. (18394945)
2008
22
Familial Mediterranean fever: clinical, molecular and management advancements. (17954950)
2007
23
Adrenomedullin and total nitrite levels in children with familial Mediterranean fever. (16712551)
2006
24
Neutrophil adhesion molecule expression in familial Mediterranean fever: discordance between the intravascular regulation of beta2 integrin and L-selectin expression in acute attack. (14989371)
2004
25
The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: A double-blind, placebo-controlled trial. (15515782)
2004
26
Plasma fibronectin- and thrombospondin-adhesive molecules during acute attacks and attack-free periods of familial Mediterranean fever. (11563578)
2001
27
Whipple's disease, familial Mediterranean fever, and adult-onset Still's disease. (1716941)
1991
28
Whipple's disease, familial Mediterranean fever, and adult-onset Still's disease. (1698427)
1990

Genetic Variations for Familial Mediterranean Fever, Ad

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Familial Mediterranean Fever, Ad:

63
id Symbol AA change Variation SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Met694IleVAR_009061rs28940578
3MEFVp.Met694ValVAR_009062
4MEFVp.His478TyrVAR_028333
5MEFVp.Met680IleVAR_028343rs28940580

Expression for genes affiliated with Familial Mediterranean Fever, Ad

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Mediterranean Fever, Ad

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

Pathways for genes affiliated with Familial Mediterranean Fever, Ad

Compounds for genes affiliated with Familial Mediterranean Fever, Ad

GO Terms for genes affiliated with Familial Mediterranean Fever, Ad

Products for genes affiliated with Familial Mediterranean Fever, Ad

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  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Mediterranean Fever, Ad

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet