ADFMF
MCID: FML344
MIFTS: 22

Familial Mediterranean Fever, Autosomal Dominant (ADFMF)

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

Aliases & Classifications for Familial Mediterranean Fever, Autosomal Dominant

MalaCards integrated aliases for Familial Mediterranean Fever, Autosomal Dominant:

Name: Familial Mediterranean Fever, Autosomal Dominant 58 76 30 6
Familial Mediterranean Fever, Ad 58 13
Fever, Mediterranean, Familial, Autosomal Dominant 41
Fmf, Autosomal Dominant 58
Adfmf 76

Characteristics:

OMIM:

58
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:

33
familial mediterranean fever, autosomal dominant:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Familial Mediterranean Fever, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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 familial mediterranean fever. An important gene associated with Familial Mediterranean Fever, Autosomal Dominant is MEFV (MEFV Innate Immuity Regulator, Pyrin). Affiliated tissues include bone, and related phenotypes are arthritis and renal insufficiency

Description 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 familial mediterranean fever 10.0

Symptoms & Phenotypes for Familial Mediterranean Fever, Autosomal Dominant

Human phenotypes related to Familial Mediterranean Fever, Autosomal Dominant:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 renal insufficiency 33 HP:0000083
3 proteinuria 33 HP:0000093
4 arthralgia 33 HP:0002829
5 abdominal pain 33 HP:0002027
6 chest pain 33 HP:0100749
7 peritonitis 33 HP:0002586
8 pleuritis 33 HP:0002102
9 renal amyloidosis 33 HP:0001917
10 polyarticular arthritis 33 HP:0005764
11 recurrent fever 33 HP:0001954

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
proteinuria
renal amyloidosis
renal failure

Abdomen Gastrointestinal:
abdominal pain
peritonitis

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

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

Skeletal:
arthralgia
polyarticular arthritis
migratory arthritis

Respiratory Lung:
pleuritis
thoracic pain

Skin Nails Hair Skin:
transient erysipelas-like erythematous rash

Clinical features from OMIM:

134610

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 30 MEFV

Anatomical Context for Familial Mediterranean Fever, Autosomal Dominant

MalaCards organs/tissues related to Familial Mediterranean Fever, Autosomal Dominant:

42
Bone

Publications for Familial Mediterranean Fever, Autosomal Dominant

Articles related to Familial Mediterranean Fever, Autosomal Dominant:

# Title Authors Year
1
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? ( 14679589 )
2004
2
The genetic basis of autosomal dominant familial Mediterranean fever. ( 10787449 )
2000

Variations for Familial Mediterranean Fever, Autosomal Dominant

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

76
# 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

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 GRCh37 Chromosome 16, 3293407: 3293407
2 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 GRCh38 Chromosome 16, 3243407: 3243407
3 MEFV NM_000243.2(MEFV): c.2082G> A (p.Met694Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs28940578 GRCh37 Chromosome 16, 3293405: 3293405
4 MEFV NM_000243.2(MEFV): c.2082G> A (p.Met694Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs28940578 GRCh38 Chromosome 16, 3243405: 3243405
5 MEFV NM_000243.2(MEFV): c.2177T> C (p.Val726Ala) single nucleotide variant Pathogenic/Likely pathogenic rs28940579 GRCh37 Chromosome 16, 3293310: 3293310
6 MEFV NM_000243.2(MEFV): c.2177T> C (p.Val726Ala) single nucleotide variant Pathogenic/Likely pathogenic rs28940579 GRCh38 Chromosome 16, 3243310: 3243310
7 MEFV NM_000243.2(MEFV): c.442G> C (p.Glu148Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs3743930 GRCh37 Chromosome 16, 3304626: 3304626
8 MEFV NM_000243.2(MEFV): c.442G> C (p.Glu148Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs3743930 GRCh38 Chromosome 16, 3254626: 3254626
9 MEFV NM_000243.2(MEFV): c.2084A> G (p.Lys695Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs104895094 GRCh37 Chromosome 16, 3293403: 3293403
10 MEFV NM_000243.2(MEFV): c.2084A> G (p.Lys695Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs104895094 GRCh38 Chromosome 16, 3243403: 3243403
11 MEFV NM_000243.2(MEFV): c.2230G> T (p.Ala744Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61732874 GRCh37 Chromosome 16, 3293257: 3293257
12 MEFV NM_000243.2(MEFV): c.2230G> T (p.Ala744Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61732874 GRCh38 Chromosome 16, 3243257: 3243257
13 MEFV NM_000243.2(MEFV): c.2282G> A (p.Arg761His) single nucleotide variant Pathogenic/Likely pathogenic rs104895097 GRCh37 Chromosome 16, 3293205: 3293205
14 MEFV NM_000243.2(MEFV): c.2282G> A (p.Arg761His) single nucleotide variant Pathogenic/Likely pathogenic rs104895097 GRCh38 Chromosome 16, 3243205: 3243205
15 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh38 Chromosome 16, 3243404: 3243406
16 MEFV NM_000243.2(MEFV): c.2081_2083delTGA (p.Met694del) deletion Pathogenic rs104895091 GRCh37 Chromosome 16, 3293404: 3293406
17 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh37 Chromosome 16, 3297171: 3297171
18 MEFV NM_000243.2(MEFV): c.1432C> T (p.His478Tyr) single nucleotide variant Pathogenic rs104895105 GRCh38 Chromosome 16, 3247171: 3247171
19 MEFV NM_000243.2(MEFV): c.2040G> C (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh37 Chromosome 16, 3293447: 3293447
20 MEFV NM_000243.2(MEFV): c.2040G> C (p.Met680Ile) single nucleotide variant Pathogenic rs28940580 GRCh38 Chromosome 16, 3243447: 3243447
21 MEFV NM_000243.2(MEFV): c.97G> T (p.Val33Leu) single nucleotide variant Uncertain significance rs11466016 GRCh37 Chromosome 16, 3306491: 3306491
22 MEFV NM_000243.2(MEFV): c.97G> T (p.Val33Leu) single nucleotide variant Uncertain significance rs11466016 GRCh38 Chromosome 16, 3256491: 3256491
23 MEFV NM_000243.2(MEFV): c.1894G> A (p.Gly632Ser) single nucleotide variant Likely pathogenic rs104895128 GRCh37 Chromosome 16, 3293593: 3293593
24 MEFV NM_000243.2(MEFV): c.1894G> A (p.Gly632Ser) single nucleotide variant Likely pathogenic rs104895128 GRCh38 Chromosome 16, 3243593: 3243593
25 MEFV NM_000243.2(MEFV): c.2024G> A (p.Ser675Asn) single nucleotide variant Uncertain significance rs104895087 GRCh37 Chromosome 16, 3293463: 3293463
26 MEFV NM_000243.2(MEFV): c.2024G> A (p.Ser675Asn) single nucleotide variant Uncertain significance rs104895087 GRCh38 Chromosome 16, 3243463: 3243463
27 MEFV NM_000243.2(MEFV): c.322A> C (p.Ser108Arg) single nucleotide variant Uncertain significance rs104895103 GRCh37 Chromosome 16, 3304746: 3304746
28 MEFV NM_000243.2(MEFV): c.322A> C (p.Ser108Arg) single nucleotide variant Uncertain significance rs104895103 GRCh38 Chromosome 16, 3254746: 3254746
29 MEFV NM_000243.2(MEFV): c.848C> G (p.Pro283Arg) single nucleotide variant Uncertain significance rs104895119 GRCh37 Chromosome 16, 3304220: 3304220
30 MEFV NM_000243.2(MEFV): c.848C> G (p.Pro283Arg) single nucleotide variant Uncertain significance rs104895119 GRCh38 Chromosome 16, 3254220: 3254220
31 MEFV NM_000243.2(MEFV): c.1131C> T (p.Arg377=) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 3299560: 3299560
32 MEFV NM_000243.2(MEFV): c.1131C> T (p.Arg377=) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 3249560: 3249560

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

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