MCID: FML161
MIFTS: 16

Familial Mediterranean Fever, Ar malady

Genetic diseases category

Summaries for Familial Mediterranean Fever, Ar

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Familial Mediterranean Fever, Ar is related to familial mediterranean fever and fatty liver disease. An important gene associated with Familial Mediterranean Fever, Ar is MEFV (Mediterranean fever).

Description from OMIM:46 249100

Aliases & Classifications for Familial Mediterranean Fever, Ar

About this section
Sources:
46OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

familial mediterranean fever, ar 46


Related Diseases for Familial Mediterranean Fever, Ar

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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
1familial mediterranean fever10.2
2fatty liver disease10.2
3liver disease10.2

Clinical Features for Familial Mediterranean Fever, Ar

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

249100

Clinical synopsis from OMIM:

249100

Drugs & Therapeutics for Familial Mediterranean Fever, Ar

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Mediterranean Fever, Ar

Drug clinical trials:

Search ClinicalTrials for Familial Mediterranean Fever, Ar

Search NIH Clinical Center for Familial Mediterranean Fever, Ar

Search CenterWatch 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

Animal Models for Familial Mediterranean Fever, Ar or affiliated genes

About this section

Publications for Familial Mediterranean Fever, Ar

About this section

Genetic Variations for Familial Mediterranean Fever, Ar

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Familial Mediterranean Fever, Ar:

62 (show all 42)
id Symbol AA change Variation ID SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Glu167AspVAR_009052
3MEFVp.Thr267IleVAR_009054
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

Expression for genes affiliated with Familial Mediterranean Fever, Ar

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet