AISBL
MCID: ATN012
MIFTS: 25

Autoinflammatory Syndrome, Familial, Behcet-Like (AISBL)

Categories: Bone diseases, Genetic diseases, Oral diseases, Rare diseases, Reproductive 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 57 73 29 6
Aisbl 57 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®:

57 (Updated 05-Mar-2021)
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
Onset and clinical course juvenile onset infantile onset childhood onset young adult onset


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


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) (Updated 05-Mar-2021)

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 breast, and related phenotypes are chorea 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 14)
# Description HPO Frequency HPO Source Accession
1 chorea 31 very rare (1%) HP:0002072
2 thrombocytopenia 31 very rare (1%) HP:0001873
3 hemolytic anemia 31 very rare (1%) HP:0001878
4 lymphopenia 31 very rare (1%) HP:0001888
5 skin rash 31 very rare (1%) HP:0000988
6 oral ulcer 31 very rare (1%) HP:0000155
7 recurrent fever 31 very rare (1%) HP:0001954
8 colitis 31 very rare (1%) HP:0002583
9 anterior uveitis 31 very rare (1%) HP:0012122
10 antinuclear antibody positivity 31 very rare (1%) HP:0003493
11 polyarticular arthritis 31 very rare (1%) HP:0005764
12 lupus anticoagulant 31 very rare (1%) HP:0025343
13 genital ulcers 31 very rare (1%) HP:0003249
14 ileal ulcer 31 very rare (1%) HP:0032024

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
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. 6 57
26642243 2016
2
A Saudi Child With Chronic Immune Thrombocytopenia and Vitiligo. 61
32714711 2020
3
Coinheritance of generalized pustular psoriasis and familial Behçet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state. 61
31353537 2019
4
Food Composition at Present: New Challenges. 61
31349634 2019
5
EuroFIR Guideline on calculation of nutrient content of foods for food business operators. 61
28867099 2018
6
Safety and efficacy of bentonite as a feed additive for all animal species. 61
32625382 2017
7
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
8
Nutrition and health claims: the role of food composition data. 61
21045856 2010
9
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 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFAIP3 NM_001270508.2(TNFAIP3):c.801del (p.Pro268fs) Deletion Pathogenic 219113 rs864321685 6:138197297-138197297 6:137876160-137876160
2 TNFAIP3 NM_001270508.2(TNFAIP3):c.811C>T (p.Arg271Ter) SNV Pathogenic 219110 rs864321626 6:138198218-138198218 6:137877081-137877081
3 TNFAIP3 NM_001270508.2(TNFAIP3):c.1809del (p.Thr604fs) Deletion Pathogenic 219111 rs864321683 6:138200388-138200388 6:137879251-137879251
4 TNFAIP3 NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter) SNV Pathogenic 219108 rs864321625 6:138197178-138197178 6:137876041-137876041
5 TNFAIP3 NM_001270508.2(TNFAIP3):c.671del (p.Phe224fs) Deletion Pathogenic 219109 rs864321682 6:138197167-138197167 6:137876030-137876030
6 TNFAIP3 NM_001270508.2(TNFAIP3):c.918C>G (p.Tyr306Ter) SNV Pathogenic 219112 rs864321684 6:138198325-138198325 6:137877188-137877188
7 TNFAIP3 GRCh37/hg19 6q23.3(chr6:138065475-138252638)x1 copy number loss Pathogenic 694368 6:138065475-138252638
8 TNFAIP3 NM_001270508.2(TNFAIP3):c.1828G>A (p.Ala610Thr) SNV Uncertain significance 994249 6:138200410-138200410 6:137879273-137879273
9 TNFAIP3 NM_001270508.2(TNFAIP3):c.1809G>T (p.Gly603=) SNV Uncertain significance 994419 6:138200391-138200391 6:137879254-137879254
10 TNFAIP3 NM_001270508.2(TNFAIP3):c.881C>T (p.Pro294Leu) SNV Uncertain significance 995597 6:138198288-138198288 6:137877151-137877151
11 TNFAIP3 NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val) SNV Uncertain significance 135336 rs587778711 6:138197240-138197240 6:137876103-137876103
12 TNFAIP3 NM_001270508.2(TNFAIP3):c.1306G>A (p.Gly436Arg) SNV Uncertain significance 812026 rs766691413 6:138199888-138199888 6:137878751-137878751
13 TNFAIP3 NM_001270508.2(TNFAIP3):c.1555G>A (p.Gly519Arg) SNV Uncertain significance 973679 6:138200137-138200137 6:137879000-137879000
14 TNFAIP3 NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) SNV Uncertain significance 135345 rs142253225 6:138201240-138201240 6:137880103-137880103
15 TNFAIP3 NM_001270508.2(TNFAIP3):c.465G>A (p.Thr155=) SNV Likely benign 993905 6:138196151-138196151 6:137875014-137875014
16 TNFAIP3 NM_001270508.2(TNFAIP3):c.305A>G (p.Asn102Ser) SNV Benign 135330 rs146534657 6:138195991-138195991 6:137874854-137874854
17 TNFAIP3 NM_001270508.2(TNFAIP3):c.2295C>T (p.Pro765=) SNV Benign 776164 rs5029956 6:138202378-138202378 6:137881241-137881241
18 TNFAIP3 NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=) SNV Benign 711037 rs140354477 6:138202258-138202258 6:137881121-137881121
19 TNFAIP3 NM_001270508.2(TNFAIP3):c.487-8C>G SNV Benign 769695 rs5029947 6:138196817-138196817 6:137875680-137875680
20 TNFAIP3 NM_001270508.2(TNFAIP3):c.296-15_296-13del Microsatellite Benign 993326 6:138195962-138195964 6:137874825-137874827
21 TNFAIP3 NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) SNV Benign 135334 rs2230926 6:138196066-138196066 6:137874929-137874929

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
20 GARD
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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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