MCID: FML162
MIFTS: 15

Familial Mediterranean Fever, Ad malady

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

Aliases & Classifications for Familial Mediterranean Fever, Ad

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Familial Mediterranean Fever, Ad, Aliases & Descriptions:

Name: Familial Mediterranean Fever, Ad 45 10
 
Familial Mediterranean Fever, Autosomal Dominant 45 22


Classifications:



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OMIM45 134610

Summaries for Familial Mediterranean Fever, Ad

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MalaCards based summary: Familial Mediterranean Fever, Ad, is also known as familial mediterranean fever, autosomal dominant, and has symptoms including autosomal dominant inheritance, renal insufficiency and proteinuria. An important gene associated with Familial Mediterranean Fever, Ad is MEFV (Mediterranean fever).

Description from OMIM:45 134610

Related Diseases for Familial Mediterranean Fever, Ad

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Symptoms for Familial Mediterranean Fever, Ad

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Symptoms by clinical synopsis from OMIM:

134610

Clinical features from OMIM:

134610

HPO human phenotypes related to Familial Mediterranean Fever, Ad:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal insufficiency HP:0000083
3 proteinuria HP:0000093
4 arthritis HP:0001369
5 renal amyloidosis HP:0001917
6 episodic fever HP:0001954
7 abdominal pain HP:0002027
8 pleuritis HP:0002102
9 peritonitis HP:0002586
10 arthralgia HP:0002829
11 juvenile onset HP:0003621
12 polyarticular arthritis HP:0005764

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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Drug clinical trials:

Search ClinicalTrials for Familial Mediterranean Fever, Ad

Search NIH Clinical Center for Familial Mediterranean Fever, Ad

Genetic Tests for Familial Mediterranean Fever, Ad

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Genetic tests related to Familial Mediterranean Fever, Ad:

id Genetic test Affiliating Genes
1 Familial Mediterranean Fever, Autosomal Dominant22

Anatomical Context for Familial Mediterranean Fever, Ad

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

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
2MEFVNM_000243.2(MEFV): c.442G> C (p.Glu148Gln)single nucleotide variantPathogenicrs3743930GRCh37Chr 16, 3304626: 3304626
3MEFVNM_000243.2(MEFV): c.2084A> G (p.Lys695Arg)single nucleotide variantPathogenicrs104895094GRCh37Chr 16, 3293403: 3293403
4MEFVNM_000243.2(MEFV): c.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
5MEFVMEFV, 3-BP DEL, 2080ATGdeletionPathogenic
6MEFVNM_000243.2(MEFV): c.1432C> T (p.His478Tyr)single nucleotide variantPathogenicrs104895105GRCh37Chr 16, 3297171: 3297171

Expression for genes affiliated with Familial Mediterranean Fever, Ad

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

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
  • Proteins
  • Kits and Assays

Sources for Familial Mediterranean Fever, Ad

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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