AISBL
MCID: ATN012
MIFTS: 26

Autoinflammatory Syndrome, Familial, Behcet-Like (AISBL)

Categories: Bone diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

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

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

Name: Autoinflammatory Syndrome, Familial, Behcet-Like 56 73 29 6
Aisbl 56 73
Behcet-Like Disease Due to Haploinsufficiency of A20 58
Hereditary Pediatric Behcet-Like Disease 58
Behcet-Like Disease Due to Ha20 58

Characteristics:

OMIM:

56
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:

Orphanet: 58  
Rare systemic and rhumatological diseases


Summaries for Autoinflammatory Syndrome, Familial, Behcet-Like

OMIM : 56 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, bone and breast, and related phenotypes are skin rash and thrombocytopenia

UniProtKB/Swiss-Prot : 73 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

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

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

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
genital ulcers

Genitourinary Internal Genitalia Female:
genital ulcers

Head And Neck Mouth:
oral 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

Genitourinary External Genitalia Female:
genital ulcers

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

Immunology:
autoinflammation
autoantibodies (in some patients)
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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Body Composition, Nutritional and Cardiovascular Status and Lifestyle Factors of Adults Who Are on Short-, Medium- and Long-term Plant-Based Diet Completed NCT03976479

Search 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:

40
Skin, Bone, Breast

Publications for Autoinflammatory Syndrome, Familial, Behcet-Like

Articles related to Autoinflammatory Syndrome, Familial, Behcet-Like:

# Title Authors PMID Year
1
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 56 6
26642243 2016
2
Coinheritance of generalized pustular psoriasis and familial Behçet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state. 61
31353537 2019
3
Food Composition at Present: New Challenges. 61
31349634 2019
4
EuroFIR Guideline on calculation of nutrient content of foods for food business operators. 61
28867099 2018
5
Improving nutrition surveillance and public health research in Central and Eastern Europe/Balkan Countries using the Balkan Food Platform and dietary tools. 61
26433305 2016
6
Nutrition and health claims: the role of food composition data. 61
21045856 2010
7
The Breast International Group. a new spirit of collaboration in breast cancer research for the new millennium. 61
10974619 2000

Variations for Autoinflammatory Syndrome, Familial, Behcet-Like

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

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFAIP3 GRCh37/hg19 6q23.3(chr6:138065475-138252638)x1copy number loss Pathogenic 694368 6:138065475-138252638
2 TNFAIP3 NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter)SNV Pathogenic 219108 rs864321625 6:138197178-138197178 6:137876041-137876041
3 TNFAIP3 NM_001270508.2(TNFAIP3):c.671del (p.Phe224fs)deletion Pathogenic 219109 rs864321682 6:138197167-138197167 6:137876030-137876030
4 TNFAIP3 NM_001270508.2(TNFAIP3):c.811C>T (p.Arg271Ter)SNV Pathogenic 219110 rs864321626 6:138198218-138198218 6:137877081-137877081
5 TNFAIP3 NM_001270508.2(TNFAIP3):c.1809del (p.Thr604fs)deletion Pathogenic 219111 rs864321683 6:138200388-138200388 6:137879251-137879251
6 TNFAIP3 NM_001270508.2(TNFAIP3):c.918C>G (p.Tyr306Ter)SNV Pathogenic 219112 rs864321684 6:138198325-138198325 6:137877188-137877188
7 TNFAIP3 NM_001270508.2(TNFAIP3):c.801del (p.Pro268fs)deletion Pathogenic 219113 rs864321685 6:138197297-138197297 6:137876160-137876160
8 TNFAIP3 NM_001270508.2(TNFAIP3):c.1306G>A (p.Gly436Arg)SNV Uncertain significance 812026 6:138199888-138199888 6:137878751-137878751
9 TNFAIP3 NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val)SNV Uncertain significance 135336 rs587778711 6:138197240-138197240 6:137876103-137876103
10 TNFAIP3 NM_001270508.2(TNFAIP3):c.305A>G (p.Asn102Ser)SNV Benign 135330 rs146534657 6:138195991-138195991 6:137874854-137874854
11 TNFAIP3 NM_001270508.2(TNFAIP3):c.2295C>T (p.Pro765=)SNV Benign 776164 6:138202378-138202378 6:137881241-137881241
12 TNFAIP3 NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=)SNV Benign 711037 6:138202258-138202258 6:137881121-137881121
13 TNFAIP3 NM_001270508.2(TNFAIP3):c.487-8C>GSNV Benign 769695 6:138196817-138196817 6:137875680-137875680

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

73
# Symbol AA change Variation ID SNP ID
1 TNFAIP3 p.Cys243Tyr VAR_076302

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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