MCID: BLS001
MIFTS: 60

Blau Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases categories

Aliases & Classifications for Blau Syndrome

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Aliases & Descriptions for Blau Syndrome:

Name: Blau Syndrome 46 8 9 42 20 21 10 44 22
Arthrocutaneouveal Granulomatosis 8 42 21
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 42 21
Pediatric Granulomatous Arthritis 42 21
Jabs Syndrome 8 42
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 61
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis 42
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 42
Autoinflammatory Granulomatosis of Childhood 42
Granulomatosis, Familial Juvenile Systemic 42
 
Familial Juvenile Systemic Granulomatosis 21
Granulomatous Arthritis of Childhood 42
Granulomatosis, Familial, Blau Type 42
Familial Granulomatosis, Blau Type 21
Granulomatous Synovitis - Uveitis 42
Sarcoidosis, Early-Onset 61
Early-Onset Sarcoidosis 21
Acug 42
Pga 42


Classifications:



External Ids:

OMIM46 186580
Disease Ontology8 DOID:0050678
NCIt39 C116794

Summaries for Blau Syndrome

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NIH Rare Diseases:42 Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis. it has variable expressivity and usually affects preschool age children younger than four years of age. characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea). permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported. it is caused by mutations in the nod2 gene and is inherited in an autosomal dominant manner. blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) mutations and occurs sporadically (in individuals with no history of the disorder in the family). last updated: 5/5/2011

MalaCards based summary: Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to arthritis and uveitis, and has symptoms including autosomal dominant inheritance, glaucoma and cataract. An important gene associated with Blau Syndrome is NOD2 (nucleotide-binding oligomerization domain containing 2), and among its related pathways are TRAF Pathway and Canonical NF-kappaB pathway. The compounds fk 565 and diaminopimelic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Disease Ontology:8 An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused by nod2/card15 mutations.

Genetics Home Reference:21 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.

Wikipedia:64 Blau syndrome is characterized by familial granulomatous arthritis, uveitis, and skin granulomas,... more...

Description from OMIM:46 186580

Related Diseases for Blau Syndrome

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Diseases related to Blau Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.2IL1B, TNF
2uveitis30.7TNF, IL10, NOD2
3vasculitis30.4IL1RAPL2, MEFV, TNF
4juvenile rheumatoid arthritis30.2TNF, IL1RAPL2
5sarcoidosis 130.2NOD2, IL1B, IL1RAPL2, TNF
6leukemia29.5TLR4, TNF, IL1RAPL2, IL1B, CSF1
7rheumatoid arthritis28.9TLR4, TNF, MEFV, IL1RAPL2, IL10, IL1B
8palindromic rheumatism10.6MEFV
9cervical adenitis10.5MVK
10intervertebral disc disease10.5IL1B
11erysipelas10.5MEFV
12hyper-igd syndrome10.5MVK
13spondylitis10.5NOD2
14malignant histiocytosis10.4CSF1
15relapsing fever10.4MVK, MEFV
16psoriatic arthritis10.4TNF
17synovitis10.4IL1B, TNF
18cooper-jabs syndrome10.4
19filariasis10.4TLR4
20pleurisy10.3MEFV, IL1B
21aids dementia complex10.3TNF, IL1B
22interstitial lung disease10.3IL1B, TNF
23gout10.3NLRP3, IL1B
24familial cold autoinflammatory syndrome10.3NLRP3, IL1B, MEFV
25periodic fever, familial10.3TNF, MEFV, MVK
26familial mediterranean fever, ar10.3TNF, MEFV, NLRP3
27craniolenticulosutural dysplasia10.3
28sarcoidosis, early-onset10.3
29pouchitis10.3TLR4, NOD2
30toxic shock syndrome10.3IL1B, TNF
31iritis10.3
32granulomatous dermatitis10.3
33dermatitis10.3
34retinitis10.3
35mastitis10.2IL1B, TLR4
36peritonitis10.2TNF, MEFV, IL1B
37choroiditis10.2
38multifocal choroiditis10.2
39pyelonephritis10.2TLR4, DPEP1
40adult-onset still's disease10.2IL1RAPL2, CSF1
41pyoderma gangrenosum10.2NOD2, NLRP3, MVK, MEFV
42ulcerative colitis10.2NOD2, NOD1, TNF
43crohn's disease10.2TNF, NOD1, NOD2
44autoimmune polyendocrine syndrome type 110.2
45respiratory failure10.2TNF, IL1B
46visceral leishmaniasis10.2IL10, DPEP1
47malaria10.2IL10, TNF
48periodontitis10.2IL1B, TLR4
49aspergillosis10.1CSF1, TLR4
50alcoholic hepatitis10.1IL10, TNF

Graphical network of the top 20 diseases related to Blau Syndrome:



Diseases related to blau syndrome

Symptoms for Blau Syndrome

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Symptoms by clinical synopsis from OMIM:

186580

Clinical features from OMIM:

186580

HPO human phenotypes related to Blau Syndrome:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 glaucoma HP:0000501
3 cataract HP:0000518
4 uveitis HP:0000554
5 band keratopathy HP:0000585
6 abnormality of the ear HP:0000598
7 eczema HP:0000964
8 iritis HP:0001101
9 abnormality of the cranial nerves HP:0001291
10 arthritis HP:0001369
11 joint swelling HP:0001386
12 flexion contracture of toe HP:0005830
13 intermittent generalized erythematous papular rash HP:0007432
14 nongranulomatous uveitis HP:0007813
15 cystoid macular edema HP:0011505
16 camptodactyly of finger HP:0100490
17 synovitis HP:0100769
18 skin ulcer HP:0200042

Drugs & Therapeutics for Blau Syndrome

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Drug clinical trials:

Search ClinicalTrials for Blau Syndrome

Search NIH Clinical Center for Blau Syndrome

Genetic Tests for Blau Syndrome

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Genetic tests related to Blau Syndrome:

id Genetic test Affiliating Genes
1 Blau Syndrome20 22 NOD2

Anatomical Context for Blau Syndrome

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MalaCards organs/tissues related to Blau Syndrome:

31
Skin, Eye, Liver

Animal Models for Blau Syndrome or affiliated genes

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Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Somatic NOD2 mosaicism in Blau syndrome. (25724124)
2015
2
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. (25429073)
2015
3
A new mutation in blau syndrome. (25692065)
2015
4
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
5
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
6
A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination. (25381727)
2014
7
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
8
A case of blau syndrome. (24876985)
2014
9
Blau syndrome and latent tubercular infection: an unresolved partnership. (24646037)
2014
10
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
11
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
12
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
13
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
14
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. (23699845)
2013
15
The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. (23678609)
2013
16
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
17
Blau syndrome, clinical and genetic aspects. (22884558)
2012
18
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. (22509093)
2012
19
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
20
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
21
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
22
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
23
Blau syndrome revisited. (21788900)
2011
24
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
25
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
26
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
27
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
28
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
29
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. (19180500)
2009
30
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
31
Two pediatric cases of Blau syndrome. (20040255)
2009
32
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. (18718560)
2009
33
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
34
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
35
Leg ulcers: a new symptom of Blau syndrome? (18955195)
2008
36
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
37
Blau syndrome presenting with ichthyosis. (15670175)
2005
38
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
39
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. (15459013)
2005
40
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. (15693102)
2005
41
A new CARD15 mutation in Blau syndrome. (15812565)
2005
42
Blau syndrome. (15051234)
2004
43
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. (15554080)
2004
44
Bupropion for Blau syndrome. (14962643)
2004
45
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. (14522785)
2003
46
Blau syndrome: a new kindred. (12894082)
2003
47
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. (12186634)
2002
48
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. (12051637)
2002
49
CARD15 mutations in Blau syndrome. (11528384)
2001
50
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000

Variations for Blau Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Blau Syndrome:

63
id Symbol AA change Variation ID SNP ID
1NOD2p.Arg334GlnVAR_012676
2NOD2p.Arg334TrpVAR_012677
3NOD2p.Leu469PheVAR_012685
4NOD2p.Glu383LysVAR_023823
5NOD2p.Thr605AsnVAR_065228

Clinvar genetic disease variations for Blau Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOD2NM_022162.1(NOD2): c.1001G> A (p.Arg334Gln)single nucleotide variantPathogenicrs104895461GRCh37Chr 16, 50744823: 50744823
2NOD2NM_022162.1(NOD2): c.1405C> T (p.Leu469Phe)single nucleotide variantPathogenicrs104895460GRCh37Chr 16, 50745227: 50745227
3NOD2NM_022162.1(NOD2): c.1000C> T (p.Arg334Trp)single nucleotide variantPathogenicrs104895462GRCh37Chr 16, 50744822: 50744822
4NOD2NM_022162.1(NOD2): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs104895477GRCh37Chr 16, 50744969: 50744969

Expression for genes affiliated with Blau Syndrome

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Search GEO for disease gene expression data for Blau Syndrome.

Pathways for genes affiliated with Blau Syndrome

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Pathways related to Blau Syndrome according to GeneCards Suite gene sharing:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.2TNF
29.9NOD2, TNF
3
Show member pathways
Serotonin Transporter Activity36
9.9TNF, IL1B
49.9IL1B, TNF
5
Show member pathways
9.5TNF, IL10
6
Show member pathways
IL-1 Signaling Pathway36
IL1-mediated signaling events36
9.5IL1B, NOD1, NOD2
7
Show member pathways
9.5NOD2, NOD1, IL1B
8
Show member pathways
9.5NOD2, NOD1, IL1B
99.5TNF, IL1B, CSF1
109.5TNF, IL1B, CSF1
119.5IL1B, TNF, CSF1
12
Show member pathways
Transcription NF kB signaling pathway59
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response59
9.3IL1B, TLR4, TNF
13
Show member pathways
9.3TLR4, TNF, IL1B
149.3IL1B, TNF, TLR4
159.3TNF, TLR4, IL1B
169.3IL1B, TNF, TLR4
17
Show member pathways
Immune response MIF in innate immunity response59
9.3IL1B, TLR4, TNF
18
Show member pathways
9.3TLR4, TNF, IL1B
19
Show member pathways
9.3NOD2, TLR4, NOD1
209.2TNF, CSF1, NOD2, IL1B
219.2IL10, TNF, IL1B
229.2TNF, IL10, IL1B
239.2TNF, IL10, IL1B
24
Show member pathways
9.2IL10, IL1B, TNF
25
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
9.2IL1B, TNF, IL10
26
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.2IL10, IL1B, TNF
27
Show member pathways
9.0TLR4, TNF, IL1B, NLRP3
28
Show member pathways
9.0NOD2, IL1B, TLR4, NOD1
299.0TNF, TLR4, IL1B, CSF1
309.0CSF1, TNF, IL1B, TLR4
318.9TLR4, TNF, IL1B, NOD1
328.9IL10, IL1B, CSF1, TNF
33
Show member pathways
8.9CSF1, IL1B, IL10, TNF
348.7TNF, TLR4, IL10, IL1B
358.7TLR4, TNF, IL1B, IL10
36
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.7IL1B, IL10, TNF, TLR4
378.7TNF, IL10, TLR4, IL1B
38
Show member pathways
IL27-mediated signaling events36
8.7IL1B, IL10, TNF, TLR4
39
Show member pathways
8.7MEFV, NOD1, NLRP3, NOD2, TNF, IL1B
40
Show member pathways
8.5TLR4, IL10, IL1B, NOD2, TNF
418.5IL10, NOD2, TLR4, TNF, IL1B
42
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways59
Immune response IL 1 signaling pathway59
8.4NLRP3, NOD2, NOD1, IL1B, TNF, TLR4
43
Show member pathways
8.3CSF1, IL1B, TNF, TLR4, IL10
44
Show member pathways
8.3TNF, IL10, TLR4, IL1B, CSF1
458.0TLR4, NLRP3, TNF, NOD1, IL1B, IL10

Compounds for genes affiliated with Blau Syndrome

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Compounds related to Blau Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1fk 565449.9NOD1, NOD2
2diaminopimelic acid449.7TLR4, NOD1, NOD2
3toxin-1449.6TNF, IL10, IL1B
4mip 1alpha449.5IL1B, IL10, TNF
55 aminosalicylic acid449.5IL10, TNF, IL1B
6leflunomide44 50 1111.5IL1B, IL1RAPL2, TNF
7il-12449.5TNF, IL10, IL1B
8groalpha449.3TNF, IL1B, IL10
9sulfasalazine28 44 50 1112.3TNF, IL1RAPL2, IL1B, CSF1
10gm-csf44 2810.3TNF, IL10, IL1B, CSF1
11leukotriene b444 60 2411.3CSF1, TNF, IL1B, IL1RAPL2
12anakinra44 1110.2NLRP3, TNF, MVK, IL1RAPL2, IL1B
13adalimumab44 50 1111.2TNF, IL1RAPL2, IL10
14budesonide44 50 1111.2TNF, CSF1, IL1B
15polymyxin b449.1TLR4, IL1B, IL10, TNF
16lipoteichoic acid449.1IL1B, IL10, TNF, TLR4
17thalidomide44 50 60 1112.1TNF, IL10, IL1B, SPG7
18pentoxifylline44 1110.1TNF, IL1RAPL2, IL10, IL1B
19ccl344 2810.1TLR4, TNF, IL10, IL1B
20imiquimod44 60 28 1111.9IL10, IL1RAPL2, TNF, TLR4
21c2ceramide448.9TLR4, IL1RAPL2, TNF, IL1B, CSF1
22fmlp448.8TNF, IL1RAPL2, IL1B, CSF1, TLR4
23prednisolone44 28 1110.8TNF, CSF1, IL1RAPL2, IL10, NOD2
24polyinosinic-polycytidylic acid448.8IL1B, CSF1, IL10, TNF, TLR4
25etanercept44 50 1110.8TNF, CSF1, IL1B, IL10, IL1RAPL2
26ivig448.8TNF, IL10, IL1RAPL2, CSF1, IL1B
27neopterin448.8IL1B, IL1RAPL2, TNF, CSF1, IL10
28calcitriol44 60 24 1111.7TNF, IL10, IL1B, CSF1, TLR4
29actinomycin d448.7IL1RAPL2, TNF, CSF1, TLR4, IL1B
30muramyl dipeptide44 289.6NOD1, TLR4, IL1B, DPEP1, NOD2
31ly294002448.6TNF, TLR4, IL10, CSF1, IL1B
32simvastatin44 50 60 28 24 1113.6TNF, MVK, IL1RAPL2, TLR4, IL10
33indomethacin44 28 60 1111.5CSF1, TNF, DPEP1, IL1RAPL2, IL1B
34superoxide44 249.4TLR4, TNF, IL1RAPL2, IL1B, CSF1
35infliximab44 50 1110.4IL10, IL1RAPL2, NOD2, TNF, TLR4, IL1B
36mannose448.4TLR4, IL1RAPL2, CSF1, NOD2, DPEP1
37thymidine44 249.3CSF1, IL10, IL1RAPL2, TNF, IL1B
38methotrexate50 44 1110.3NLRP3, TLR4, TNF, IL1B, IL10, IL1RAPL2
39tgf beta1448.2CSF1, IL10, IL1B, IL1RAPL2, TNF, TLR4
40ionomycin448.2CSF1, TNF, DPEP1, IL10
41rantes448.2CSF1, IL10, IL1RAPL2, TNF, TLR4, IL1B
42histamine44 28 2410.2CSF1, IL10, IL1RAPL2, IL1B, TLR4, TNF
43cycloheximide448.2TLR4, CSF1, IL1B, IL10, IL1RAPL2, TNF
44dexamethasone44 50 28 1111.1IL10, IL1RAPL2, TNF, TLR4, IL1B, CSF1
45il 10448.0IL1B, IL10, CSF1, NOD2, TNF, TLR4
46vegf448.0TLR4, IL1B, IL10, IL1RAPL2, TNF, CSF1
47nitric oxide44 24 119.5NOD2, IL1RAPL2, IL10, IL1B, DPEP1, TNF
48pge2447.4IL1B, DPEP1, IL1RAPL2, IL10, CSF1, TNF
49peptidoglycan44 288.3IL10, DPEP1, IL1B, TLR4, TNF, NOD1
50endotoxin447.3MEFV, IL1B, NOD2, TLR4, TNF, DPEP1

GO Terms for genes affiliated with Blau Syndrome

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Cellular components related to Blau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.0CSF1, IL1B, IL10, DPEP1, TNF

Biological processes related to Blau Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 72)
idNameGO IDScoreTop Affiliating Genes
1interleukin-1 beta productionGO:003261110.2NLRP3, IL1B
2sequestering of triglycerideGO:003073010.2TNF, IL1B
3positive regulation of calcidiol 1-monooxygenase activityGO:006055910.2IL1B, TNF
4positive regulation of heterotypic cell-cell adhesionGO:003411610.2TNF, IL1B
5positive regulation of humoral immune response mediated by circulating immunoglobulinGO:000292510.2NOD2, TNF
6positive regulation of fever generationGO:003162210.2TNF, IL1B
7negative regulation of inflammatory responseGO:005072810.0NLRP3, MVK, MEFV
8detection of biotic stimulusGO:000959510.0NOD1, NLRP3, NOD2
9protein oligomerizationGO:00512599.9NOD1, NOD2, NLRP3
10receptor biosynthetic processGO:00328009.9IL10, TNF
11defense response to Gram-positive bacteriumGO:00508309.9NOD2, NOD1, TNF
12defense responseGO:00069529.9NOD2, NLRP3, NOD1
13positive regulation of dendritic cell antigen processing and presentationGO:00026069.9NOD1, NOD2
14JNK cascadeGO:00072549.9TNF, NOD2, NOD1
15negative regulation of cytokine secretion involved in immune responseGO:00027409.9TNF, IL10
16positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.8NOD1, NLRP3, TNF
17negative regulation of interleukin-12 productionGO:00326959.8NOD2, MEFV, IL10
18positive regulation of chemokine biosynthetic processGO:00450809.8IL1B, TNF
19positive regulation of NF-kappaB import into nucleusGO:00423469.8IL1B, TNF, TLR4
20lipopolysaccharide-mediated signaling pathwayGO:00316639.7IL1B, TLR4, TNF
21positive regulation of nitric oxide biosynthetic processGO:00454299.7IL1B, TNF, TLR4
22nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.7NOD2, NOD1, NLRP3, MEFV
23negative regulation of growth of symbiont in hostGO:00441309.7NOD2, IL10, TNF
24positive regulation of interferon-gamma productionGO:00327299.7IL1B, TLR4, TNF
25positive regulation of tumor necrosis factor productionGO:00327609.7NOD2, NOD1, TLR4
26activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.7NLRP3, TNF, NOD1
27toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.6TLR4, NOD1, NOD2
28toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.6TLR4, NOD2, NOD1
29toll-like receptor 2 signaling pathwayGO:00341349.6NOD1, TLR4, NOD2
30TRIF-dependent toll-like receptor signaling pathwayGO:00356669.5NOD1, TLR4, NOD2
31MyD88-dependent toll-like receptor signaling pathwayGO:00027559.5TLR4, NOD2, NOD1
32negative regulation of interferon-gamma productionGO:00326899.5NOD2, IL10, TLR4
33negative regulation of tumor necrosis factor productionGO:00327209.5NOD2, IL10, TLR4
34MyD88-independent toll-like receptor signaling pathwayGO:00027569.5NOD2, NOD1, TLR4
35toll-like receptor 3 signaling pathwayGO:00341389.5NOD1, TLR4, NOD2
36negative regulation of interleukin-6 productionGO:00327159.4TLR4, TNF, IL10
37positive regulation of ERK1 and ERK2 cascadeGO:00703749.4TNF, NOD1, NOD2, TLR4
38positive regulation of MHC class II biosynthetic processGO:00453489.3IL10, TLR4
39positive regulation of interleukin-8 biosynthetic processGO:00454169.3TLR4, TNF
40cellular response to lipopolysaccharideGO:00712229.3TLR4, IL10, NLRP3
41positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.2TNF, IL10, IL1B
42positive regulation of interleukin-6 productionGO:00327559.1NOD1, IL1B, TNF, TLR4, NOD2
43positive regulation of JNK cascadeGO:00463309.1TNF, NOD2, NOD1, IL1B, TLR4
44activation of MAPK activityGO:00001879.1NOD1, IL1B, TNF, TLR4, NOD2
45positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1TLR4, NOD1, NOD2, IL1B, TNF
46defense response to bacteriumGO:00427429.1NOD2, NOD1, IL10, TLR4
47positive regulation of NF-kappaB transcription factor activityGO:00510928.8NLRP3, NOD1, NOD2, IL1B, TNF, TLR4
48innate immune responseGO:00450878.8NLRP3, TLR4, NOD2, NOD1, MEFV, CSF1
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.6NOD2, IL10, IL1B, TLR4, TNF
50inflammatory responseGO:00069548.4CSF1, IL1B, IL10, MEFV, NLRP3, TNF

Molecular functions related to Blau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptidoglycan bindingGO:00428349.5NOD2, NOD1, NLRP3
2CARD domain bindingGO:00507009.5NOD1, NOD2
3ATP bindingGO:00055248.8NOD2, NOD1, NLRP3, MVK, SPG7
4cytokine activityGO:00051258.8CSF1, IL1B, IL10, TNF

Sources for Blau Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet