ADFMF
MCID: FML344
MIFTS: 27

Familial Mediterranean Fever, Autosomal Dominant (ADFMF)

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

Aliases & Classifications for Familial Mediterranean Fever, Autosomal Dominant

MalaCards integrated aliases for Familial Mediterranean Fever, Autosomal Dominant:

Name: Familial Mediterranean Fever, Autosomal Dominant 57 72 29 6
Familial Mediterranean Fever, Ad 57 13
Fever, Mediterranean, Familial, Autosomal Dominant 39
Fmf, Autosomal Dominant 57
Adfmf 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence
colchicine treatment is not effective
favorable response to antibodies against tnf-alpha (tnfa, )
see also autosomal recessive familial mediterranean fever (fmf, )


HPO:

31
familial mediterranean fever, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Familial Mediterranean Fever, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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, Autosomal Dominant, also known as familial mediterranean fever, ad, is related to autism spectrum disorder. An important gene associated with Familial Mediterranean Fever, Autosomal Dominant is MEFV (MEFV Innate Immuity Regulator, Pyrin). Related phenotypes are proteinuria and renal insufficiency

More information from OMIM: 134610

Related Diseases for Familial Mediterranean Fever, Autosomal Dominant

Diseases in the Familial Mediterranean Fever family:

Familial Mediterranean Fever, Autosomal Dominant

Diseases related to Familial Mediterranean Fever, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 9.5 MET MEFV

Symptoms & Phenotypes for Familial Mediterranean Fever, Autosomal Dominant

Human phenotypes related to Familial Mediterranean Fever, Autosomal Dominant:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 very rare (1%) HP:0000093
2 renal insufficiency 31 very rare (1%) HP:0000083
3 arthralgia 31 very rare (1%) HP:0002829
4 pleuritis 31 very rare (1%) HP:0002102
5 erysipelas 31 very rare (1%) HP:0001055
6 recurrent fever 31 very rare (1%) HP:0001954
7 renal amyloidosis 31 very rare (1%) HP:0001917
8 polyarticular arthritis 31 very rare (1%) HP:0005764
9 abdominal pain 31 HP:0002027
10 chest pain 31 HP:0100749
11 peritonitis 31 HP:0002586

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
proteinuria
renal amyloidosis
renal failure

Skeletal:
arthralgia
polyarticular arthritis
migratory arthritis

Metabolic Features:
fever, episodic
fever episodes last from 3 to 10 days

Laboratory Abnormalities:
increased serum c-reactive protein (crp, )

Abdomen Gastrointestinal:
abdominal pain
peritonitis

Respiratory Lung:
pleuritis
thoracic pain

Skin Nails Hair Skin:
transient erysipelas-like erythematous rash

Clinical features from OMIM®:

134610 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Familial Mediterranean Fever, Autosomal Dominant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Chlamydia trachomatis serovar L2 infection and TNF-alpha/CHX stimulation GR00206-A 8.62 MEFV MET

Drugs & Therapeutics for Familial Mediterranean Fever, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Familial Mediterranean Fever, Autosomal Dominant

Genetic Tests for Familial Mediterranean Fever, Autosomal Dominant

Genetic tests related to Familial Mediterranean Fever, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Familial Mediterranean Fever, Autosomal Dominant 29 MEFV

Anatomical Context for Familial Mediterranean Fever, Autosomal Dominant

Publications for Familial Mediterranean Fever, Autosomal Dominant

Articles related to Familial Mediterranean Fever, Autosomal Dominant:

# Title Authors PMID Year
1
The genetic basis of autosomal dominant familial Mediterranean fever. 6 57
10787449 2000
2
The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. 6
15942916 2005
3
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? 57
14679589 2004
4
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. 57
10234504 1999
5
Autosomal dominant 'Mediterranean fever' in a Finnish family. 57
1402641 1992
6
[Familial Mediterranean fever in a German family]. 57
2707135 1989
7
Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis. 57
3682954 1987
8
Familial Mediterranean fever in an Italian family. 57
5412026 1970
9
Familial perireticular amyloidosis in a Swedish family. 57
5678100 1968

Variations for Familial Mediterranean Fever, Autosomal Dominant

ClinVar genetic disease variations for Familial Mediterranean Fever, Autosomal Dominant:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEFV NM_000243.3(MEFV):c.1027del (p.Gln343fs) Deletion Pathogenic 1034123 GRCh37: 16:3299664-3299664
GRCh38: 16:3249664-3249664
2 MEFV NM_000243.2(MEFV):c.1432C>T (p.His478Tyr) SNV Pathogenic 2557 rs104895105 GRCh37: 16:3297171-3297171
GRCh38: 16:3247171-3247171
3 MEFV NM_000243.3(MEFV):c.2082G>A SNV Pathogenic 2555 rs28940578 GRCh37: 16:3293405-3293405
GRCh38: 16:3243405-3243405
4 MEFV NM_000243.3(MEFV):c.2078_2080TGA[1] (p.Met694del) Microsatellite Pathogenic 2556 rs104895091 GRCh37: 16:3293404-3293406
GRCh38: 16:3243404-3243406
5 MEFV NM_000243.3(MEFV):c.2040G>C SNV Pathogenic 36507 rs28940580 GRCh37: 16:3293447-3293447
GRCh38: 16:3243447-3243447
6 MEFV NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) SNV Pathogenic 2540 rs28940579 GRCh37: 16:3293310-3293310
GRCh38: 16:3243310-3243310
7 MEFV NM_000243.3(MEFV):c.2082G>A SNV Pathogenic 2539 rs28940578 GRCh37: 16:3293405-3293405
GRCh38: 16:3243405-3243405
8 MEFV NM_000243.3(MEFV):c.2082G>A SNV Pathogenic 2539 rs28940578 GRCh37: 16:3293405-3293405
GRCh38: 16:3243405-3243405
9 MEFV NM_000243.3(MEFV):c.2080A>G SNV Pathogenic 2538 rs61752717 GRCh37: 16:3293407-3293407
GRCh38: 16:3243407-3243407
10 MEFV NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) SNV Pathogenic 2540 rs28940579 GRCh37: 16:3293310-3293310
GRCh38: 16:3243310-3243310
11 MEFV NM_000243.3(MEFV):c.2040G>A SNV Pathogenic 2550 rs28940580 GRCh37: 16:3293447-3293447
GRCh38: 16:3243447-3243447
12 MEFV NM_000243.2(MEFV):c.2230G>T (p.Ala744Ser) SNV Pathogenic 2548 rs61732874 GRCh37: 16:3293257-3293257
GRCh38: 16:3243257-3243257
13 MEFV NM_000243.3(MEFV):c.2040G>A SNV Pathogenic 2550 rs28940580 GRCh37: 16:3293447-3293447
GRCh38: 16:3243447-3243447
14 MEFV NM_000243.2(MEFV):c.2230G>T (p.Ala744Ser) SNV Pathogenic 2548 rs61732874 GRCh37: 16:3293257-3293257
GRCh38: 16:3243257-3243257
15 MEFV NM_000243.3(MEFV):c.2080A>G SNV Pathogenic/Likely pathogenic 2538 rs61752717 GRCh37: 16:3293407-3293407
GRCh38: 16:3243407-3243407
16 MEFV NM_000243.3(MEFV):c.2282G>A (p.Arg761His) SNV Likely pathogenic 2549 rs104895097 GRCh37: 16:3293205-3293205
GRCh38: 16:3243205-3243205
17 MEFV NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) SNV Likely pathogenic 97467 rs104895128 GRCh37: 16:3293593-3293593
GRCh38: 16:3243593-3243593
18 MEFV NM_000243.2:c.(?_911)_(1356_?)del Deletion Likely pathogenic 987917 GRCh37:
GRCh38:
19 MEFV NM_000243.3(MEFV):c.442G>C SNV Conflicting interpretations of pathogenicity 2542 rs3743930 GRCh37: 16:3304626-3304626
GRCh38: 16:3254626-3254626
20 MEFV NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) SNV Uncertain significance 97515 rs104895103 GRCh37: 16:3304746-3304746
GRCh38: 16:3254746-3254746
21 MEFV NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) SNV Uncertain significance 2543 rs104895079 GRCh37: 16:3304567-3304567
GRCh38: 16:3254567-3254567
22 MEFV NM_000243.2(MEFV):c.986G>A (p.Arg329His) SNV Uncertain significance 97557 rs104895112 GRCh37: 16:3299705-3299705
GRCh38: 16:3249705-3249705
23 MEFV NM_000243.2(MEFV):c.1260+10C>T SNV Uncertain significance 36498 rs104895137 GRCh37: 16:3299421-3299421
GRCh38: 16:3249421-3249421
24 MEFV NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) SNV Uncertain significance 36499 rs11466026 GRCh37: 16:3298947-3298947
GRCh38: 16:3248947-3248947
25 MEFV NM_000243.2(MEFV):c.1151T>C (p.Leu384Pro) SNV Uncertain significance 663143 rs139313647 GRCh37: 16:3299540-3299540
GRCh38: 16:3249540-3249540
26 MEFV NM_000243.2(MEFV):c.2123G>A (p.Arg708His) SNV Uncertain significance 649340 rs200375017 GRCh37: 16:3293364-3293364
GRCh38: 16:3243364-3243364
27 MEFV NM_000243.2(MEFV):c.277+6C>T SNV Uncertain significance 516197 rs7199464 GRCh37: 16:3306305-3306305
GRCh38: 16:3256305-3256305
28 MEFV NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) SNV Uncertain significance 97441 rs104895151 GRCh37: 16:3297233-3297233
GRCh38: 16:3247233-3247233
29 MEFV NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) SNV Uncertain significance 860331 GRCh37: 16:3297081-3297081
GRCh38: 16:3247081-3247081
30 MEFV NM_000243.2(MEFV):c.1061G>A (p.Arg354Gln) SNV Uncertain significance 495749 rs763015849 GRCh37: 16:3299630-3299630
GRCh38: 16:3249630-3249630
31 MEFV NM_000243.2(MEFV):c.848C>G (p.Pro283Arg) SNV Uncertain significance 97548 rs104895119 GRCh37: 16:3304220-3304220
GRCh38: 16:3254220-3254220
32 MEFV NM_000243.2(MEFV):c.2024G>A (p.Ser675Asn) SNV Uncertain significance 97478 rs104895087 GRCh37: 16:3293463-3293463
GRCh38: 16:3243463-3243463
33 MEFV NM_000243.2(MEFV):c.1131C>T (p.Arg377=) SNV Uncertain significance 625980 rs149941578 GRCh37: 16:3299560-3299560
GRCh38: 16:3249560-3249560
34 MEFV NM_000243.2(MEFV):c.97G>T (p.Val33Leu) SNV Uncertain significance 36516 rs11466016 GRCh37: 16:3306491-3306491
GRCh38: 16:3256491-3256491
35 MEFV NM_000243.3(MEFV):c.357G>C (p.Lys119Asn) SNV Uncertain significance 828008 rs1000657059 GRCh37: 16:3304711-3304711
GRCh38: 16:3254711-3254711
36 MEFV NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) SNV Uncertain significance 97537 rs104895080 GRCh37: 16:3304380-3304380
GRCh38: 16:3254380-3254380
37 MEFV NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) SNV Uncertain significance 2547 rs104895094 GRCh37: 16:3293403-3293403
GRCh38: 16:3243403-3243403
38 MEFV NM_000243.3(MEFV):c.442G>C SNV Uncertain significance 2542 rs3743930 GRCh37: 16:3304626-3304626
GRCh38: 16:3254626-3254626
39 MET NM_000245.4(MET):c.2908C>T (p.Arg970Cys) SNV Likely benign 41623 rs34589476 GRCh37: 7:116411923-116411923
GRCh38: 7:116771869-116771869
40 MEFV NM_000243.2(MEFV):c.-330G>A SNV Benign 675625 rs11466013 GRCh37: 16:3306917-3306917
GRCh38: 16:3256917-3256917
41 MEFV NM_000243.2(MEFV):c.297C>T (p.Asn99=) SNV Benign 97514 rs104895175 GRCh37: 16:3304771-3304771
GRCh38: 16:3254771-3254771
42 MEFV NM_000243.2(MEFV):c.97G>T (p.Val33Leu) SNV Benign 36516 rs11466016 GRCh37: 16:3306491-3306491
GRCh38: 16:3256491-3256491
43 MEFV NM_000243.2(MEFV):c.1587+33C>G SNV Benign 97892 rs146820856 GRCh37: 16:3296983-3296983
GRCh38: 16:3246983-3246983

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

72
# Symbol AA change Variation ID SNP ID
1 MEFV p.Glu148Gln VAR_009051 rs3743930
2 MEFV p.Met694Ile VAR_009061 rs28940578
3 MEFV p.Met694Val VAR_009062 rs61752717
4 MEFV p.His478Tyr VAR_028333 rs104895105
5 MEFV p.Met680Ile VAR_028343 rs28940580

Expression for Familial Mediterranean Fever, Autosomal Dominant

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

Pathways for Familial Mediterranean Fever, Autosomal Dominant

GO Terms for Familial Mediterranean Fever, Autosomal Dominant

Sources for Familial Mediterranean Fever, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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