MCID: ATN012
MIFTS: 20

Autoinflammatory Syndrome, Familial, Behcet-Like

Categories: Genetic diseases, Bone diseases, Rare diseases

Aliases & Classifications for Autoinflammatory Syndrome, Familial, Behcet-Like

MalaCards integrated aliases for Autoinflammatory Syndrome, Familial, Behcet-Like:

Name: Autoinflammatory Syndrome, Familial, Behcet-Like 57 75 29 6
Aisbl 57 75
Behçet-Like Disease Due to Haploinsufficiency of A20 59
Hereditary Pediatric Behçet-Like Disease 59
Behçet-Like Disease Due to Ha20 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable manifestations
onset in first or second decades
treatment with tnf inhibitors may be beneficial


HPO:

32
autoinflammatory syndrome, familial, behcet-like:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammatory Syndrome, Familial, Behcet-Like

OMIM : 57 Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional more variable features include skin rash, uveitis, and polyarthritis. Symptoms become apparent in the first or second decades. The disorder results from inappropriate activation of inflammatory cytokines; treatment with tumor necrosis factor (TNF; 191160) inhibitors may be beneficial (summary by Zhou et al., 2016). (616744)

MalaCards based summary : Autoinflammatory Syndrome, Familial, Behcet-Like, is also known as aisbl. An important gene associated with Autoinflammatory Syndrome, Familial, Behcet-Like is TNFAIP3 (TNF Alpha Induced Protein 3). Affiliated tissues include skin and bone, and related phenotypes are oral ulcer and skin rash

UniProtKB/Swiss-Prot : 75 Autoinflammatory syndrome, familial, Behcet-like: An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis.

Related Diseases for Autoinflammatory Syndrome, Familial, Behcet-Like

Symptoms & Phenotypes for Autoinflammatory Syndrome, Familial, Behcet-Like

Symptoms via clinical synopsis from OMIM:

57
Hematology:
thrombocytopenia (1 patient)
hemolytic anemia (1 patient)

Genitourinary External Genitalia Male:
genital ulcers

Genitourinary Internal Genitalia Female:
genital ulcers

Head And Neck Eyes:
uveitis (in some patients)
chorioretinal scarring (in some patients)

Skeletal:
polyarthritis (in some patients)

Laboratory Abnormalities:
increased circulating proinflammatory cytokines

Head And Neck Mouth:
oral ulcers

Genitourinary External Genitalia Female:
genital ulcers

Immunology:
autoantibodies (in some patients)
autoinflammation
periodic fevers (in some patients)

Abdomen Gastrointestinal:
gastrointestinal inflammation (in some patients)
gastrointestinal ulcers (in some patients)

Skin Nails Hair Skin:
rash (in some patients)


Clinical features from OMIM:

616744

Human phenotypes related to Autoinflammatory Syndrome, Familial, Behcet-Like:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 oral ulcer 32 very rare (1%) HP:0000155
2 skin rash 32 occasional (7.5%) HP:0000988
3 thrombocytopenia 32 occasional (7.5%) HP:0001873
4 hemolytic anemia 32 occasional (7.5%) HP:0001878
5 lymphopenia 32 very rare (1%) HP:0001888
6 episodic fever 32 very rare (1%) HP:0001954
7 colitis 32 very rare (1%) HP:0002583
8 genital ulcers 32 very rare (1%) HP:0003249
9 antinuclear antibody positivity 32 very rare (1%) HP:0003493
10 polyarticular arthritis 32 very rare (1%) HP:0005764
11 anterior uveitis 32 very rare (1%) HP:0012122
12 lupus anticoagulant 32 very rare (1%) HP:0025343

Drugs & Therapeutics for Autoinflammatory Syndrome, Familial, Behcet-Like

Search Clinical Trials , NIH Clinical Center for Autoinflammatory Syndrome, Familial, Behcet-Like

Genetic Tests for Autoinflammatory Syndrome, Familial, Behcet-Like

Genetic tests related to Autoinflammatory Syndrome, Familial, Behcet-Like:

# Genetic test Affiliating Genes
1 Autoinflammatory Syndrome, Familial, Behcet-Like 29 TNFAIP3

Anatomical Context for Autoinflammatory Syndrome, Familial, Behcet-Like

MalaCards organs/tissues related to Autoinflammatory Syndrome, Familial, Behcet-Like:

41
Skin, Bone

Publications for Autoinflammatory Syndrome, Familial, Behcet-Like

Variations for Autoinflammatory Syndrome, Familial, Behcet-Like

UniProtKB/Swiss-Prot genetic disease variations for Autoinflammatory Syndrome, Familial, Behcet-Like:

75
# Symbol AA change Variation ID SNP ID
1 TNFAIP3 p.Cys243Tyr VAR_076302

ClinVar genetic disease variations for Autoinflammatory Syndrome, Familial, Behcet-Like:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFAIP3 NM_006290.3(TNFAIP3): c.680T> A (p.Leu227Ter) single nucleotide variant Pathogenic rs864321625 GRCh37 Chromosome 6, 138197178: 138197178
2 TNFAIP3 NM_006290.3(TNFAIP3): c.680T> A (p.Leu227Ter) single nucleotide variant Pathogenic rs864321625 GRCh38 Chromosome 6, 137876041: 137876041
3 TNFAIP3 NM_006290.3(TNFAIP3): c.671delT (p.Phe224Serfs) deletion Pathogenic rs864321682 GRCh37 Chromosome 6, 138197169: 138197169
4 TNFAIP3 NM_006290.3(TNFAIP3): c.671delT (p.Phe224Serfs) deletion Pathogenic rs864321682 GRCh38 Chromosome 6, 137876032: 137876032
5 TNFAIP3 NM_006290.3(TNFAIP3): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs864321626 GRCh37 Chromosome 6, 138198218: 138198218
6 TNFAIP3 NM_006290.3(TNFAIP3): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs864321626 GRCh38 Chromosome 6, 137877081: 137877081
7 TNFAIP3 NM_006290.3(TNFAIP3): c.1809delG (p.Thr604Argfs) deletion Pathogenic rs864321683 GRCh37 Chromosome 6, 138200391: 138200391
8 TNFAIP3 NM_006290.3(TNFAIP3): c.1809delG (p.Thr604Argfs) deletion Pathogenic rs864321683 GRCh38 Chromosome 6, 137879254: 137879254
9 TNFAIP3 NM_006290.3(TNFAIP3): c.918C> G (p.Tyr306Ter) single nucleotide variant Pathogenic rs864321684 GRCh37 Chromosome 6, 138198325: 138198325
10 TNFAIP3 NM_006290.3(TNFAIP3): c.918C> G (p.Tyr306Ter) single nucleotide variant Pathogenic rs864321684 GRCh38 Chromosome 6, 137877188: 137877188
11 TNFAIP3 NM_006290.3(TNFAIP3): c.801delG (p.Pro268Leufs) deletion Pathogenic rs864321685 GRCh38 Chromosome 6, 137876162: 137876162
12 TNFAIP3 NM_006290.3(TNFAIP3): c.801delG (p.Pro268Leufs) deletion Pathogenic rs864321685 GRCh37 Chromosome 6, 138197299: 138197299

Expression for Autoinflammatory Syndrome, Familial, Behcet-Like

Search GEO for disease gene expression data for Autoinflammatory Syndrome, Familial, Behcet-Like.

Pathways for Autoinflammatory Syndrome, Familial, Behcet-Like

GO Terms for Autoinflammatory Syndrome, Familial, Behcet-Like

Sources for Autoinflammatory Syndrome, Familial, Behcet-Like

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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