MCID: FML161
MIFTS: 18

Familial Mediterranean Fever, Ar malady

Genetic diseases, Rare diseases, Immune diseases, Nephrological diseases, Bone diseases, Blood diseases categories
Download this MalaCard

Summaries for Familial Mediterranean Fever, Ar

About this section


Fully expand this MalaCard
MalaCards based summary: Familial Mediterranean Fever, Ar is related to liver disease and familial mediterranean fever, and has symptoms including An important gene associated with Familial Mediterranean Fever, Ar is MEFV (Mediterranean fever). Affiliated tissues include liver.

Description from OMIM:46 249100

Aliases & Classifications for Familial Mediterranean Fever, Ar

About this section

Familial Mediterranean Fever, Ar, Aliases & Descriptions:

Name: Familial Mediterranean Fever, Ar 46


Classifications:



Related Diseases for Familial Mediterranean Fever, Ar

About this section

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, Ar via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1liver disease10.2
2familial mediterranean fever10.2
3fatty liver disease10.2

Symptoms for Familial Mediterranean Fever, Ar

About this section

Symptoms by clinical synopsis from OMIM:

249100

Clinical features from OMIM:

249100

HPO human phenotypes related to Familial Mediterranean Fever, Ar:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal insufficiency HP:0000083
3 nephrotic syndrome HP:0000100
4 meningitis HP:0001287
5 arthritis HP:0001369
6 pericarditis HP:0001701
7 splenomegaly HP:0001744
8 renal amyloidosis HP:0001917
9 episodic fever HP:0001954
10 leukocytosis HP:0001974
11 abdominal pain HP:0002027
12 pleuritis HP:0002102
13 hepatomegaly HP:0002240
14 peritonitis HP:0002586
15 arthralgia HP:0002829
16 elevated erythrocyte sedimentation rate HP:0003565

Drugs & Therapeutics for Familial Mediterranean Fever, Ar

About this section

Drug clinical trials:

Search ClinicalTrials for Familial Mediterranean Fever, Ar

Search NIH Clinical Center for Familial Mediterranean Fever, Ar

Genetic Tests for Familial Mediterranean Fever, Ar

About this section

Anatomical Context for Familial Mediterranean Fever, Ar

About this section

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

32
Liver

Animal Models for Familial Mediterranean Fever, Ar or affiliated genes

About this section

Publications for Familial Mediterranean Fever, Ar

About this section

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

About this section

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

64 (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 20)
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 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 pathogenicrs104895076GRCh37Chr 16, 3304625: 3304625
15MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
16MEFVNM_000243.2(MEFV): c.1432C> T (p.His478Tyr)single nucleotide variantPathogenicrs104895105GRCh37Chr 16, 3297171: 3297171
17MEFVNM_000243.2(MEFV): c.1016C> T (p.Ser339Phe)single nucleotide variantLikely pathogenicrs104895157GRCh37Chr 16, 3299675: 3299675
18MEFVNM_000243.2(MEFV): c.1318C> G (p.Gln440Glu)single nucleotide variantLikely pathogenicrs11466026GRCh37Chr 16, 3298947: 3298947
19MEFVNM_000243.2(MEFV): c.2040G> C (p.Met680Ile)single nucleotide variantPathogenicrs28940580GRCh37Chr 16, 3293447: 3293447
20MEFVNM_000243.2(MEFV): c.941G> A (p.Arg314His)single nucleotide variantLikely pathogenicrs104895204GRCh37Chr 16, 3299750: 3299750

Expression for genes affiliated with Familial Mediterranean Fever, Ar

About this section
Expression patterns in normal tissues for genes affiliated with Familial Mediterranean Fever, Ar

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

Pathways for genes affiliated with Familial Mediterranean Fever, Ar

About this section

Compounds for genes affiliated with Familial Mediterranean Fever, Ar

About this section

GO Terms for genes affiliated with Familial Mediterranean Fever, Ar

About this section

Products for genes affiliated with Familial Mediterranean Fever, Ar

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Mediterranean Fever, Ar

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet