Familial Behcet-Like Autoinflammatory Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Familial Behcet-Like Autoinflammatory Syndrome

MalaCards integrated aliases for Familial Behcet-Like Autoinflammatory Syndrome:

Name: Familial Behcet-Like Autoinflammatory Syndrome ¹¹ ¹⁴ ¹⁶

Autoinflammatory Syndrome, Familial, Behcet-Like ²⁸ ⁵ ³⁸

A20 Haploinsufficiency ¹¹

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases Skin diseases Reproductive diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080944

EFO ¹⁶ EFO_0020034

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Summaries for Familial Behcet-Like Autoinflammatory Syndrome

Disease Ontology: ¹¹ A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has material basis in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23.

MalaCards based summary: Familial Behcet-Like Autoinflammatory Syndrome, also known as autoinflammatory syndrome, familial, behcet-like, is related to aphthous stomatitis and pericarditis. An important gene associated with Familial Behcet-Like Autoinflammatory Syndrome is TNFAIP3 (TNF Alpha Induced Protein 3), and among its related pathways/superpathways are p75 NTR receptor-mediated signalling and NF-KappaB Family Pathway. Related phenotypes are homeostasis/metabolism and cellular

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Related Diseases for Familial Behcet-Like Autoinflammatory Syndrome

Diseases in the Familial Behcet-Like Autoinflammatory Syndrome family:

Autoinflammatory Syndrome, Familial, Behcet-Like 1

Diseases related to Familial Behcet-Like Autoinflammatory Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)

#	Related Disease	Score	Top Affiliating Genes
1	aphthous stomatitis	29.6	TNFAIP3 TNF MEFV IL12RB2
2	pericarditis	29.6	TNFRSF1A TNF MEFV
3	familial mediterranean fever	29.0	TNFRSF1A TNF PSTPIP1 MEFV
4	behcet syndrome	28.6	TNFRSF1A TNFAIP3 TNF PSTPIP1 OTULIN MEFV
5	autoinflammatory syndrome, familial, x-linked, behcet-like 2	11.4
6	autoinflammatory syndrome, familial, behcet-like 1	11.4
7	immunodeficiency 57 with autoinflammation	10.2	ZNF7 OTULIN
8	autoimmune disease	10.2
9	juvenile rheumatoid arthritis	10.2
10	immunodeficiency 33	10.2	OTULIN IKBKG
11	autoinflammatory syndrome	10.2
12	intermittent hydrarthrosis	10.1	TNFRSF1A MEFV
13	toxicodendron dermatitis	10.1	TNF IKBKG
14	uveitis	10.1
15	hypothyroidism	10.1
16	folliculitis	10.1
17	thyroiditis	10.1
18	impetigo herpetiformis	10.1	CARD14 AP1S3
19	juvenile ankylosing spondylitis	10.1	TNF LACC1
20	iridocyclitis	10.1	TNFAIP3 TNF
21	geographic tongue	10.1	CARD14 AP1S3
22	psoriasis 15	10.0	CARD14 AP1S3
23	atrophic glossitis	10.0	CARD14 AP1S3
24	psoriasis 2	10.0	CARD14 AP1S3
25	familial cold autoinflammatory syndrome 1	10.0	TNFRSF1A MEFV
26	pustular psoriasis	10.0	TNF AP1S3
27	chromophil adenoma of the kidney	10.0	TNFRSF1A TNF
28	autoimmune disease of cardiovascular system	10.0	TNFAIP3 TNF MEFV
29	serum amyloid a amyloidosis	10.0	TNF MEFV
30	proteasome-associated autoinflammatory syndrome 1	10.0	TNFAIP3 TNF MEFV
31	immunodeficiency 31a	10.0	WDR1 LACC1 AP1S3
32	immunodeficiency 31c	10.0	WDR1 LACC1 AP1S3
33	scleritis	10.0	TNFAIP3 TNF
34	ectodermal dysplasia 1, hypohidrotic, x-linked	10.0	TNF IKBKG
35	takayasu arteritis	10.0	TNFAIP3 TNF IL12RB2
36	acrodermatitis	10.0	CARD14 AP1S3
37	schnitzler syndrome	9.9	NLRP12 MEFV
38	spondylarthropathy	9.9	TNFRSF1A TNF
39	hashimoto thyroiditis	9.9
40	systemic lupus erythematosus	9.9
41	pernicious anemia	9.9
42	vitiligo-associated multiple autoimmune disease susceptibility 6	9.9
43	immune deficiency disease	9.9
44	sjogren syndrome	9.9
45	vitiligo-associated multiple autoimmune disease susceptibility 1	9.9
46	vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	9.9
47	deficiency anemia	9.9
48	exanthem	9.9
49	visceral heterotaxy	9.9
50	combined immunodeficiency	9.9

Graphical network of the top 20 diseases related to Familial Behcet-Like Autoinflammatory Syndrome:

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Symptoms & Phenotypes for Familial Behcet-Like Autoinflammatory Syndrome

MGI Mouse Phenotypes related to Familial Behcet-Like Autoinflammatory Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.06	IKBKG IL12RB2 LACC1 MEFV NLRP12 OTULIN
2	cellular	MP:0005384	9.96	CARD14 IKBKG LACC1 MEFV NLRP12 OTULIN
3	immune system	MP:0005387	9.93	CARD14 IKBKG IL12RB2 LACC1 MEFV NLRP12
4	liver/biliary system	MP:0005370	9.91	IKBKG IL12RB2 MEFV PSTPIP1 TNF TNFAIP3
5	neoplasm	MP:0002006	9.88	IKBKG IL12RB2 NLRP12 OTULIN TNF TNFRSF1A
6	hematopoietic system	MP:0005397	9.77	CARD14 IKBKG IL12RB2 LACC1 MEFV NLRP12
7	integument	MP:0010771	9.28	CARD14 IKBKG MEFV OTULIN TNF TNFAIP3

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Drugs & Therapeutics for Familial Behcet-Like Autoinflammatory Syndrome

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

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Genetic Tests for Familial Behcet-Like Autoinflammatory Syndrome

Genetic tests related to Familial Behcet-Like Autoinflammatory Syndrome:

#	Genetic test	Affiliating Genes
1	Autoinflammatory Syndrome, Familial, Behcet-Like ²⁸

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Anatomical Context for Familial Behcet-Like Autoinflammatory Syndrome

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Publications for Familial Behcet-Like Autoinflammatory Syndrome

Articles related to Familial Behcet-Like Autoinflammatory Syndrome:

(show all 42)

#	Title	Authors	PMID	Year
1	A20 Haploinsufficiency Presenting with a Combined Immunodeficiency. ⁶² ⁵	Gans MD...Rubinstein A	32666380	2020
2	Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. ⁶² ⁵	Zhou Q...Aksentijevich I	26642243	2016
3	Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia. ⁵	Dong X...Wang X	30810840	2019
4	Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. ⁵	Kadowaki T...Kanegane H	29241730	2018
5	A case of A20 haploinsufficiency in which intestinal inflammation improved with thalidomide. ⁶²	Mitsunaga K...Tomiita M	36367251	2022
6	An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa. ⁶²	Niwano T...Yasuda S	35595232	2022
7	TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases. ⁶²	Aslani N...Ziaee V	36064566	2022
8	The Expanding Spectrum of Autoinflammatory Diseases. ⁶²	Migita K...Sato S	35314554	2022
9	Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency. ⁶²	Zanatta L...Martelossi S	36467491	2022
10	Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience. ⁶²	Miyamoto T...Yasumi T	36211342	2022
11	Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization. ⁶²	Tian Y...Shen M	35958611	2022
12	Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases. ⁶²	Su G...Zhou Z	34559261	2021
13	A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment. ⁶²	Hautala T...Seppanen MRJ	31977656	2021
14	Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency. ⁶²	Shiraki M...Kanegane H	34427832	2021
15	Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency. ⁶²	Deshayes S...Aouba A	33966343	2021
16	Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report. ⁶²	Yan M...Abudureyim M	34011076	2021
17	Clinical characteristics and genetic analysis of A20 haploinsufficiency. ⁶²	Zhang D...Lai J	34030699	2021
18	Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation. ⁶²	Girardelli M...Tommasini A	33971891	2021
19	Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. ⁶²	Kadowaki S...Ohnishi H	33549127	2021
20	Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease. ⁶²	Shiraki M...Ohnishi H	33499153	2021
21	Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience. ⁶²	Suri D...Singh S	33815380	2021
22	Pathergy Phenomenon. ⁶²	Ergun T	34113630	2021
23	A20 Haploinsufficiency in East Asia. ⁶²	Kadowaki T...Ohnishi H	34899744	2021
24	Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion. ⁶²	Taniguchi K...Hata K	33446651	2021
25	The First Case of an Infant with Familial A20 Haploinsufficiency in Korea. ⁶²	Kim HY...Kim SH	32743991	2020
26	Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry. ⁶²	Kadowaki T...Fukao T	32335289	2020
27	[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency]. ⁶²	Huang YY...Zhao XD	32135594	2020
28	A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report. ⁶²	Chen Y...Xiao F	32719680	2020
29	[A report of clinical characteristics of 2 Chinese pedigrees with haploinsufficiency of A20 and literature review]. ⁶²	Zhong LQ...Song HM	31795558	2019
30	New data in causes of autoinflammatory diseases. ⁶²	Kone-Paut I...Touitou I	30471422	2019
31	Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report. ⁶²	Li GM...Sun L	31299923	2019
32	'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease'. ⁶²	Berteau F...de Moreuil C	29549169	2019
33	Response to: 'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease' by Aeschlimann et al. ⁶²	Aeschlimann FA...Laxer RM	29574415	2019
34	Autosomal dominant Hashimoto's thyroiditis with a mutation in TNFAIP3. ⁶²	Hori T...Fukao T	31384100	2019
35	Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy. ⁶²	Viel S...Belot A	29678940	2018
36	Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement. ⁶²	Aeschlimann FA...Laxer RM	29916847	2018
37	TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6. ⁶²	Franco-Jarava C...Soler-Palacin P	29572183	2018
38	A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. ⁶²	Aeschlimann FA...Laxer RM	29317407	2018
39	An Update on Autoinflammatory Diseases: Relopathies. ⁶²	Steiner A...Davidson S	29846841	2018
40	Vasculitis in Systemic Autoinflammatory Diseases. ⁶²	Demir S...Ozen S	30560109	2018
41	Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ⁶²	Takagi M...Morio T	27845235	2017
42	A20 Haploinsufficiency Aggravates Transplant Arteriosclerosis in Mouse Vascular Allografts: Implications for Clinical Transplantation. ⁶²	Moll HP...Ferran C	27495763	2016

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Genes for Familial Behcet-Like Autoinflammatory Syndrome

Genes related to Familial Behcet-Like Autoinflammatory Syndrome (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFAIP3	TNF Alpha Induced Protein 3	Protein Coding	432.78	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	26642243 29241730 30810840 (more) 32666380
2	OTULIN	OTU Deubiquitinase With Linear Linkage Specificity	Protein Coding	6.19	DISEASES inferred ¹⁴
3	ZNF711	Zinc Finger Protein 711	Protein Coding	5.86	DISEASES inferred ¹⁴
4	ZNF7	Zinc Finger Protein 7	Protein Coding	5.72	DISEASES inferred ¹⁴
5	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	5.65	DISEASES inferred ¹⁴
6	WDR1	WD Repeat Domain 1	Protein Coding	5.5	DISEASES inferred ¹⁴
7	MEFV	MEFV Innate Immunity Regulator, Pyrin	Protein Coding	5.3	DISEASES inferred ¹⁴
8	IL12RB2	Interleukin 12 Receptor Subunit Beta 2	Protein Coding	5.18	DISEASES inferred ¹⁴
9	LACC1	Laccase Domain Containing 1	Protein Coding	5.12	DISEASES inferred ¹⁴
10	CARD14	Caspase Recruitment Domain Family Member 14	Protein Coding	5.07	DISEASES inferred ¹⁴
11	AP1S3	Adaptor Related Protein Complex 1 Subunit Sigma 3	Protein Coding	5.04	DISEASES inferred ¹⁴
12	TNF	Tumor Necrosis Factor	Protein Coding	4.9	DISEASES inferred ¹⁴
13	NLRP12	NLR Family Pyrin Domain Containing 12	Protein Coding	4.89	DISEASES inferred ¹⁴
14	PSTPIP1	Proline-Serine-Threonine Phosphatase Interacting Protein 1	Protein Coding	4.83	DISEASES inferred ¹⁴
15	TNFRSF1A	TNF Receptor Superfamily Member 1A	Protein Coding	4.82	DISEASES inferred ¹⁴

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Variations for Familial Behcet-Like Autoinflammatory Syndrome

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

⁵ (show all 42)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TNFAIP3	NM_001270508.2(TNFAIP3):c.801del (p.Pro268fs)	DEL	Pathogenic	219113	rs864321685	GRCh37: 6:138197297-138197297 GRCh38: 6:137876160-137876160
2	TNFAIP3	NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter)	SNV	Pathogenic	219108	rs864321625	GRCh37: 6:138197178-138197178 GRCh38: 6:137876041-137876041
3	TNFAIP3	NM_001270508.2(TNFAIP3):c.671del (p.Phe224fs)	DEL	Pathogenic	219109	rs864321682	GRCh37: 6:138197167-138197167 GRCh38: 6:137876030-137876030
4	TNFAIP3	NM_001270508.2(TNFAIP3):c.918C>G (p.Tyr306Ter)	SNV	Pathogenic	219112	rs864321684	GRCh37: 6:138198325-138198325 GRCh38: 6:137877188-137877188
5	TNFAIP3	GRCh37/hg19 6q23.3(chr6:138065475-138252638)x1	CN LOSS	Pathogenic	694368		GRCh37: 6:138065475-138252638 GRCh38:
6	TNFAIP3		DEL	Pathogenic	998175		GRCh37: 6:138125829-138244816 GRCh38:
7	TNFAIP3	NM_001270508.2(TNFAIP3):c.1727dup (p.His577fs)	DUP	Pathogenic	1319978		GRCh37: 6:138200305-138200306 GRCh38: 6:137879168-137879169
8	TNFAIP3	NM_001270508.2(TNFAIP3):c.1346del (p.Asn449fs)	DEL	Pathogenic	1676287		GRCh37: 6:138199927-138199927 GRCh38: 6:137878790-137878790
9	TNFAIP3	NM_001270508.2(TNFAIP3):c.1428G>A (p.Met476Ile)	SNV	Pathogenic	1676288		GRCh37: 6:138200010-138200010 GRCh38: 6:137878873-137878873
10	TNFAIP3	NM_001270508.2(TNFAIP3):c.912del (p.Glu305fs)	DEL	Pathogenic	836614	rs1776278098	GRCh37: 6:138198316-138198316 GRCh38: 6:137877179-137877179
11	overlap with 86 genes		DEL	Pathogenic	1684644		GRCh37: GRCh38: 6:134838331-142160056
12	TNFAIP3	NM_001270508.2(TNFAIP3):c.811C>T (p.Arg271Ter)	SNV	Pathogenic	219110	rs864321626	GRCh37: 6:138198218-138198218 GRCh38: 6:137877081-137877081
13	TNFAIP3	NM_001270508.2(TNFAIP3):c.1809del (p.Thr604fs)	DEL	Pathogenic	219111	rs864321683	GRCh37: 6:138200388-138200388 GRCh38: 6:137879251-137879251
14	TNFAIP3	NM_001270508.2(TNFAIP3):c.1035C>A (p.Tyr345Ter)	SNV	Likely Pathogenic	1683561		GRCh37: 6:138199617-138199617 GRCh38: 6:137878480-137878480
15	TNFAIP3	NM_001270508.2(TNFAIP3):c.176_177del (p.Gln59fs)	DEL	Likely Pathogenic	1319838		GRCh37: 6:138192540-138192541 GRCh38: 6:137871403-137871404
16	TNFAIP3	NM_001270508.2(TNFAIP3):c.1477_1502del (p.Gly493fs)	DEL	Likely Pathogenic	1325206		GRCh37: 6:138200058-138200083 GRCh38: 6:137878921-137878946
17	TNFAIP3	NM_001270508.2(TNFAIP3):c.22C>T (p.Gln8Ter)	SNV	Likely Pathogenic	1028499	rs1461832435	GRCh37: 6:138192386-138192386 GRCh38: 6:137871249-137871249
18	TNFAIP3	NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)	SNV	Conflicting Interpretations Of Pathogenicity	1096311		GRCh37: 6:138202447-138202447 GRCh38: 6:137881310-137881310
19	TNFAIP3	NM_001270508.2(TNFAIP3):c.1294G>A (p.Gly432Ser)	SNV	Uncertain Significance	1331012		GRCh37: 6:138199876-138199876 GRCh38: 6:137878739-137878739
20	TNFAIP3	NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val)	SNV	Uncertain Significance	135332	rs5029941	GRCh37: 6:138196060-138196060 GRCh38: 6:137874923-137874923
21	TNFAIP3	NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)	SNV	Uncertain Significance	135338	rs142752989	GRCh37: 6:138200216-138200216 GRCh38: 6:137879079-137879079
22	TNFAIP3	NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys)	SNV	Uncertain Significance	1113112		GRCh37: 6:138202173-138202173 GRCh38: 6:137881036-137881036
23	TNFAIP3	NM_001270508.2(TNFAIP3):c.980C>T (p.Ala327Val)	SNV	Uncertain Significance	1679469		GRCh37: 6:138198387-138198387 GRCh38: 6:137877250-137877250
24	TNFAIP3	NM_001270508.2(TNFAIP3):c.227C>T (p.Thr76Ile)	SNV	Uncertain Significance	1031619	rs1776060477	GRCh37: 6:138192591-138192591 GRCh38: 6:137871454-137871454
25	TNFAIP3	NM_001270508.2(TNFAIP3):c.1853C>A (p.Pro618Gln)	SNV	Uncertain Significance	1319261		GRCh37: 6:138200435-138200435 GRCh38: 6:137879298-137879298
26	TNFAIP3	NM_001270508.2(TNFAIP3):c.1555G>A (p.Gly519Arg)	SNV	Uncertain Significance	973679	rs762149390	GRCh37: 6:138200137-138200137 GRCh38: 6:137879000-137879000
27	TNFAIP3	NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val)	SNV	Uncertain Significance	135336	rs587778711	GRCh37: 6:138197240-138197240 GRCh38: 6:137876103-137876103
28	TNFAIP3	NM_001270508.2(TNFAIP3):c.1306G>A (p.Gly436Arg)	SNV	Uncertain Significance	812026	rs766691413	GRCh37: 6:138199888-138199888 GRCh38: 6:137878751-137878751
29	TNFAIP3	NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro)	SNV	Uncertain Significance	135345	rs142253225	GRCh37: 6:138201240-138201240 GRCh38: 6:137880103-137880103
30	TNFAIP3	NM_001270508.2(TNFAIP3):c.1757C>T (p.Ala586Val)	SNV	Uncertain Significance	1675138		GRCh37: 6:138200339-138200339 GRCh38: 6:137879202-137879202
31	TNFAIP3	NM_001270508.2(TNFAIP3):c.1828G>A (p.Ala610Thr)	SNV	Uncertain Significance	994249	rs1776363649	GRCh37: 6:138200410-138200410 GRCh38: 6:137879273-137879273
32	TNFAIP3	NM_001270508.2(TNFAIP3):c.1809G>T (p.Gly603=)	SNV	Uncertain Significance	994419	rs201052251	GRCh37: 6:138200391-138200391 GRCh38: 6:137879254-137879254
33	TNFAIP3	NM_001270508.2(TNFAIP3):c.881C>T (p.Pro294Leu)	SNV	Uncertain Significance	995597	rs756723486	GRCh37: 6:138198288-138198288 GRCh38: 6:137877151-137877151
34	TNFAIP3	NM_001270508.2(TNFAIP3):c.465G>A (p.Thr155=)	SNV	Likely Benign	993905	rs140424499	GRCh37: 6:138196151-138196151 GRCh38: 6:137875014-137875014
35	TNFAIP3	NM_001270508.2(TNFAIP3):c.1710C>T (p.Leu570=)	SNV	Likely Benign	1330533		GRCh37: 6:138200292-138200292 GRCh38: 6:137879155-137879155
36	TNFAIP3	NM_001270508.2(TNFAIP3):c.296-15_296-13del	MICROSAT	Benign	993326	rs2307859	GRCh37: 6:138195962-138195964 GRCh38: 6:137874825-137874827
37	TNFAIP3	NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys)	SNV	Benign	135334	rs2230926	GRCh37: 6:138196066-138196066 GRCh38: 6:137874929-137874929
38	TNFAIP3	NM_001270508.2(TNFAIP3):c.2295C>T (p.Pro765=)	SNV	Benign	776164	rs5029956	GRCh37: 6:138202378-138202378 GRCh38: 6:137881241-137881241
39	TNFAIP3	NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=)	SNV	Benign	711037	rs140354477	GRCh37: 6:138202258-138202258 GRCh38: 6:137881121-137881121
40	TNFAIP3	NM_001270508.2(TNFAIP3):c.487-8C>G	SNV	Benign	769695	rs5029947	GRCh37: 6:138196817-138196817 GRCh38: 6:137875680-137875680
41	TNFAIP3	NM_001270508.2(TNFAIP3):c.305A>G (p.Asn102Ser)	SNV	Benign	135330	rs146534657	GRCh37: 6:138195991-138195991 GRCh38: 6:137874854-137874854
42	TNFAIP3	NM_001270508.2(TNFAIP3):c.805+28A>C	SNV	Benign	1281403		GRCh37: 6:138197331-138197331 GRCh38: 6:137876194-137876194

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Expression for Familial Behcet-Like Autoinflammatory Syndrome

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

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Pathways for Familial Behcet-Like Autoinflammatory Syndrome

Pathways related to Familial Behcet-Like Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	p75 NTR receptor-mediated signalling ⁶⁶ Show member pathways Axonal growth inhibition (RHOA activation) ⁶⁶ Axonal growth stimulation ⁶⁶ Cell death signalling via NRAGE, NRIF and NADE ⁶⁶ Death Receptor Signaling ⁶⁶ G alpha (12/13) signalling events ⁶⁶ NADE modulates death signalling ⁶⁶ NF-kB is activated and signals survival ⁶⁶ NRAGE signals death through JNK ⁶⁶ NRIF signals cell death from the nucleus ⁶⁶ p75NTR negatively regulates cell cycle via SC1 ⁶⁶ p75NTR recruits signalling complexes ⁶⁶ p75NTR regulates axonogenesis ⁶⁶ p75NTR signals via NF-kB ⁶⁶ Regulated proteolysis of p75NTR ⁶⁶	12.65	TNFRSF1A TNFAIP3 TNF OTULIN IKBKG
2	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.45	TNFRSF1A TNFAIP3 TNF IKBKG CARD14
3	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.44	TNFRSF1A TNFAIP3 TNF IKBKG
4	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.39	TNFRSF1A TNFAIP3 TNF IKBKG
5	NF-kappaB Signaling ³	12.23	TNFRSF1A TNFAIP3 TNF OTULIN IKBKG
6	Apoptosis and survival FAS signaling cascades ²² Show member pathways Apoptosis and survival Caspase cascade ²² Breakdown of the nuclear lamina ⁶⁶ Caspase Cascade in Apoptosis ⁶¹ Fas ligand pathway and stress induction of heat shock proteins ⁷⁴ Fas Signaling ⁶⁴	12.12	TNFRSF1A TNF IKBKG
7	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	11.93	TNF IL12RB2 IKBKG
8	TNF signaling ⁶⁶ Show member pathways Regulation of TNFR1 signaling ⁶⁶ TNF receptor signaling pathway ⁶¹ TNFR1-induced NFkappaB signaling pathway ⁶⁶ TNFR1-induced proapoptotic signaling ⁶⁶ TNFR1-mediated ceramide production ⁶⁶	11.66	TNFRSF1A TNFAIP3 TNF OTULIN IKBKG
9	Activation of NF-KappaB by PKR ⁶⁴ Show member pathways Canonical NF-kB pathway ⁷⁴ Cellular Transformation by HTLV1 ⁶⁴ Inhibition of PKR ⁶⁶ STING pathway in Kawasaki-like disease and COVID-19 ⁷⁴	11.59	TNFRSF1A TNF IKBKG
10	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.52	TNFRSF1A TNF IKBKG
11	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways ⁶⁶ Show member pathways NOD1/2 Signaling Pathway ⁶⁶	11.43	TNFAIP3 PSTPIP1 MEFV IKBKG
12	Transcription_NF-kB signaling pathway ²²	11.37	IKBKG TNF TNFRSF1A
13	Nucleotide-binding oligomerization domain (NOD) pathway ⁷⁴	11.19	NLRP12 MEFV IKBKG
14	THC Differentiation Pathway ⁶⁴	11.16	TNFRSF1A TNF IL12RB2 IKBKG
15	Antiviral and anti-inflammatory effects of Nrf2 on SARS-CoV-2 pathway ⁷⁴	11.07	TNF IKBKG
16	14-3-3 and Regulation of BAD Activity ⁶⁴	11.05	TNFRSF1A TNFAIP3 TNF
17	Ebstein-Barr virus LMP1 signaling ⁷⁴	10.94	TNF IKBKG
18	Roles of ceramides in the development of insulin resistance ⁷⁴	10.9	TNFRSF1A TNF
19	Nanoparticle triggered regulated necrosis ⁷⁴	10.6	TNFRSF1A TNF
20	Canonical NF-kappaB pathway ⁶¹	10.3	TNFRSF1A TNFAIP3 TNF IKBKG

Sources

GO Terms for Familial Behcet-Like Autoinflammatory Syndrome

Biological processes related to Familial Behcet-Like Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of NF-kappaB transcription factor activity	GO:0032088	10	TNFAIP3 OTULIN NLRP12
2	positive regulation of interleukin-1 beta production	GO:0032731	9.91	TNF NLRP12 MEFV
3	negative regulation of interleukin-6 production	GO:0032715	9.88	TNFAIP3 TNF NLRP12
4	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.85	TNFRSF1A TNF CARD14
5	pattern recognition receptor signaling pathway	GO:0002221	9.81	MEFV LACC1
6	positive regulation of hepatocyte proliferation	GO:2000347	9.8	TNFAIP3 TNF
7	regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043122	9.8	IKBKG NLRP12 TNF
8	positive regulation of inflammatory response	GO:0050729	9.8	TNFRSF1A TNF NLRP12 MEFV
9	regulation of establishment of endothelial barrier	GO:1903140	9.78	TNFRSF1A TNF
10	nucleotide-binding oligomerization domain containing 2 signaling pathway	GO:0070431	9.76	LACC1 OTULIN
11	negative regulation of inflammatory response	GO:0050728	9.65	TNFRSF1A TNFAIP3 OTULIN NLRP12 MEFV
12	regulation of tumor necrosis factor-mediated signaling pathway	GO:0010803	9.63	OTULIN TNFAIP3 TNFRSF1A
13	inflammatory response	GO:0006954	9.47	TNFRSF1A TNFAIP3 TNF PSTPIP1 MEFV LACC1

Sources

Sources for Familial Behcet-Like Autoinflammatory Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: FML333 MIFTS: 36	Familial Behcet-Like Autoinflammatory Syndrome Categories: Genetic diseases, Immune diseases, Oral diseases, Reproductive diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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