MCID: FML162
MIFTS: 19

Familial Mediterranean Fever, Ad malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Blood diseases, Immune diseases

Aliases & Classifications for Familial Mediterranean Fever, Ad

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Aliases & Descriptions for Familial Mediterranean Fever, Ad:

Name: Familial Mediterranean Fever, Ad 49 11
Familial Mediterranean Fever, Autosomal Dominant 67 24
 
Adfmf 67

Characteristics:

HPO:

61
familial mediterranean fever, ad:
Onset and clinical course: juvenile onset
Inheritance: autosomal dominant inheritance


Classifications:



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OMIM49 134610
MedGen34 C1851347
MeSH36 D010505

Summaries for Familial Mediterranean Fever, Ad

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UniProtKB/Swiss-Prot:67 Familial Mediterranean fever, autosomal dominant: A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness.

MalaCards based summary: Familial Mediterranean Fever, Ad, is also known as familial mediterranean fever, autosomal dominant, and has symptoms including chest pain, polyarticular arthritis and arthralgia. An important gene associated with Familial Mediterranean Fever, Ad is MEFV (Mediterranean Fever). Affiliated tissues include bone.

Description from OMIM:49 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 11)
id Description Frequency HPO Source Accession
1 chest pain HP:0100749
2 polyarticular arthritis HP:0005764
3 arthralgia HP:0002829
4 peritonitis HP:0002586
5 pleuritis HP:0002102
6 abdominal pain HP:0002027
7 episodic fever HP:0001954
8 renal amyloidosis HP:0001917
9 arthritis HP:0001369
10 proteinuria HP:0000093
11 renal insufficiency HP:0000083

Drugs & Therapeutics for Familial Mediterranean Fever, Ad

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Care Ecosystem: Navigating Patients and Families Through Stages of CareRecruitingNCT02213458

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Genetic Tests for Familial Mediterranean Fever, Ad

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Anatomical Context for Familial Mediterranean Fever, Ad

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

33
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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UniProtKB/Swiss-Prot genetic disease variations for Familial Mediterranean Fever, Ad:

67
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:

5
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.2082G> A (p.Met694Ile)single nucleotide variantPathogenicrs28940578GRCh37Chr 16, 3293405: 3293405
4MEFVMEFV, 3-BP DEL, 2080ATGdeletionPathogenic
5MEFVNM_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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GO Terms for genes affiliated with Familial Mediterranean Fever, Ad

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Sources for Familial Mediterranean Fever, Ad

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet