MCID: ATN012
MIFTS: 21

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 53 71 28
Aisbl 53 71
Behçet-Like Disease Due to Haploinsufficiency of A20 55
Hereditary Pediatric Behçet-Like Disease 55
Behçet-Like Disease Due to Ha20 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
autoinflammatory syndrome, familial, behcet-like:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammatory Syndrome, Familial, Behcet-Like

OMIM : 53 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, and has symptoms including hemolytic anemia, thrombocytopenia and lymphopenia. An important gene associated with Autoinflammatory Syndrome, Familial, Behcet-Like is TNFAIP3 (TNF Alpha Induced Protein 3). Affiliated tissues include skin and bone.

UniProtKB/Swiss-Prot : 71 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:

53
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 Gastroin testinal:
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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 occasional (7.5%) HP:0001878
2 thrombocytopenia 31 occasional (7.5%) HP:0001873
3 lymphopenia 31 very rare (1%) HP:0001888
4 skin rash 31 occasional (7.5%) HP:0000988
5 oral ulcer 31 very rare (1%) HP:0000155
6 antinuclear antibody positivity 31 very rare (1%) HP:0003493
7 episodic fever 31 very rare (1%) HP:0001954
8 lupus anticoagulant 31 very rare (1%) HP:0025343
9 polyarticular arthritis 31 very rare (1%) HP:0005764
10 colitis 31 very rare (1%) HP:0002583
11 anterior uveitis 31 very rare (1%) HP:0012122
12 genital ulcers 31 very rare (1%) HP:0003249

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 28 TNFAIP3

Anatomical Context for Autoinflammatory Syndrome, Familial, Behcet-Like

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

38
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:

71
# Symbol AA change Variation ID SNP ID
1 TNFAIP3 p.Cys243Tyr VAR_076302

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

6
# 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.671delT (p.Phe224Serfs) deletion Pathogenic rs864321682 GRCh37 Chromosome 6, 138197169: 138197169
3 TNFAIP3 NM_006290.3(TNFAIP3): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs864321626 GRCh37 Chromosome 6, 138198218: 138198218
4 TNFAIP3 NM_006290.3(TNFAIP3): c.1809delG (p.Thr604Argfs) deletion Pathogenic rs864321683 GRCh37 Chromosome 6, 138200391: 138200391
5 TNFAIP3 NM_006290.3(TNFAIP3): c.918C> G (p.Tyr306Ter) single nucleotide variant Pathogenic rs864321684 GRCh37 Chromosome 6, 138198325: 138198325
6 TNFAIP3 NM_006290.3(TNFAIP3): c.801delG (p.Pro268Leufs) deletion Pathogenic rs864321685 GRCh38 Chromosome 6, 137876162: 137876162

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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