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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Blau Syndrome, Aliases & Descriptions:

Name: Blau Syndrome 45 9 10 41 20 21 11 43 22
Arthrocutaneouveal Granulomatosis 9 41 21
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 41 21
Pediatric Granulomatous Arthritis 41 21
Jabs Syndrome 9 41
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 60
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis 41
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 41
Autoinflammatory Granulomatosis of Childhood 41
Granulomatosis, Familial Juvenile Systemic 41
 
Familial Juvenile Systemic Granulomatosis 21
Granulomatous Arthritis of Childhood 41
Granulomatosis, Familial, Blau Type 41
Familial Granulomatosis, Blau Type 21
Granulomatous Synovitis - Uveitis 41
Sarcoidosis, Early-Onset 60
Early-Onset Sarcoidosis 21
Acug 41
Pga 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Skin diseases


External Ids:

OMIM45 186580
Disease Ontology9 DOID:0050678
NCIt38 C116794

Summaries for Blau Syndrome

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NIH Rare Diseases:41 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:9 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:63 Blau syndrome is characterized by familial granulomatous arthritis, uveitis, and skin granulomas,... more...

Description from OMIM:45 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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MGI Mouse Phenotypes related to Blau Syndrome:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5NOD2, NLRP3, IL10, TNF, TLR4
2MP:00053718.4TLR4, TNF, IL10, CSF1, NLRP3
3MP:00053708.3TLR4, TNF, MEFV, IL10, CSF1, NLRP3
4MP:00107718.0TLR4, TNF, MEFV, IL10, CSF1, NLRP3
5MP:00053897.9ATN1, TLR4, TNF, MEFV, IL10, CSF1
6MP:00053767.6TLR4, TNF, MEFV, IL10, IL1B, CSF1
7MP:00053847.6TLR4, TNF, MEFV, IL10, CSF1, NLRP3
8MP:00053977.4TLR4, TNF, MEFV, IL10, IL1B, CSF1
9MP:00053877.4TLR4, TNF, MEFV, IL10, IL1B, CSF1
10MP:00053907.4NOD2, SPG7, TLR4, TNF, MEFV, IL10
11MP:00036317.4SPG7, ATN1, TLR4, TNF, IL10, IL1B
12MP:00107687.4ATN1, TLR4, TNF, MEFV, IL10, IL1B
13MP:00053787.3SPG7, ATN1, TLR4, TNF, MEFV, IL10

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:

62
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:

6
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
29.9TNF, NOD2
39.9IL1B, TNF
4
Show member pathways
Serotonin Transporter Activity36
9.9IL1B, TNF
5
Show member pathways
9.5IL10, TNF
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
9.5IL1B, NOD1, NOD2
99.5CSF1, IL1B, TNF
109.5CSF1, IL1B, TNF
119.5CSF1, IL1B, TNF
129.3IL1B, TNF, TLR4
13
Show member pathways
Immune response MIF in innate immunity response58
9.3IL1B, TNF, TLR4
149.3TLR4, TNF, IL1B
15
Show member pathways
9.3TLR4, TNF, IL1B
16
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
9.3IL1B, TNF, TLR4
17
Show member pathways
9.3TLR4, TNF, IL1B
189.3TLR4, TNF, IL1B
19
Show member pathways
9.3TLR4, NOD1, NOD2
209.2NOD2, CSF1, IL1B, TNF
219.2IL1B, IL10, TNF
22
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.2IL1B, IL10, TNF
239.2IL1B, IL10, TNF
24
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
9.2IL1B, IL10, TNF
259.2IL1B, IL10, TNF
26
Show member pathways
9.2IL1B, IL10, TNF
27
Show member pathways
9.0TLR4, TNF, IL1B, NLRP3
28
Show member pathways
9.0TLR4, IL1B, NOD1, NOD2
299.0TLR4, TNF, IL1B, CSF1
309.0TLR4, TNF, IL1B, CSF1
318.9NOD1, IL1B, TNF, TLR4
32
Show member pathways
8.9TNF, IL10, IL1B, CSF1
338.9TNF, IL10, IL1B, CSF1
34
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.7TLR4, TNF, IL10, IL1B
358.7TLR4, TNF, IL10, IL1B
36
Show member pathways
IL27-mediated signaling events36
8.7TLR4, TNF, IL10, IL1B
378.7TLR4, TNF, IL10, IL1B
388.7IL1B, IL10, TNF, TLR4
39
Show member pathways
8.7TNF, MEFV, IL1B, NLRP3, NOD1, NOD2
40
Show member pathways
8.5NOD2, IL1B, IL10, TNF, TLR4
418.5TLR4, TNF, IL10, IL1B, NOD2
42
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways58
Immune response IL 1 signaling pathway58
8.4TLR4, TNF, IL1B, NLRP3, NOD1, NOD2
43
Show member pathways
8.3TLR4, TNF, IL10, IL1B, CSF1
44
Show member pathways
8.3CSF1, IL1B, IL10, TNF, TLR4
458.0NOD1, NLRP3, IL1B, IL10, TNF, TLR4

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 565439.9NOD1, NOD2
2diaminopimelic acid439.7TLR4, NOD1, NOD2
3toxin-1439.6TNF, IL10, IL1B
4mip 1alpha439.5IL1B, IL10, TNF
55 aminosalicylic acid439.5IL10, TNF, IL1B
6leflunomide43 49 1211.5IL1B, IL1RAPL2, TNF
7il-12439.5TNF, IL10, IL1B
8groalpha439.3TNF, IL1B, IL10
9sulfasalazine28 43 49 1212.3TNF, IL1RAPL2, IL1B, CSF1
10gm-csf43 2810.3TNF, IL10, IL1B, CSF1
11leukotriene b443 59 2411.3CSF1, TNF, IL1B, IL1RAPL2
12anakinra43 1210.2NLRP3, TNF, MVK, IL1RAPL2, IL1B
13adalimumab43 49 1211.2TNF, IL1RAPL2, IL10
14budesonide43 49 1211.2TNF, CSF1, IL1B
15polymyxin b439.1TLR4, IL1B, IL10, TNF
16lipoteichoic acid439.1IL1B, IL10, TNF, TLR4
17thalidomide43 49 59 1212.1TNF, IL10, IL1B, SPG7
18pentoxifylline43 1210.1TNF, IL1RAPL2, IL10, IL1B
19ccl343 2810.1TLR4, TNF, IL10, IL1B
20imiquimod43 59 28 1211.9IL10, IL1RAPL2, TNF, TLR4
21c2ceramide438.9TLR4, IL1RAPL2, TNF, IL1B, CSF1
22fmlp438.8TNF, IL1RAPL2, IL1B, CSF1, TLR4
23prednisolone43 28 1210.8TNF, CSF1, IL1RAPL2, IL10, NOD2
24polyinosinic-polycytidylic acid438.8IL1B, CSF1, IL10, TNF, TLR4
25etanercept43 49 1210.8TNF, CSF1, IL1B, IL10, IL1RAPL2
26ivig438.8TNF, IL10, IL1RAPL2, CSF1, IL1B
27neopterin438.8IL1B, IL1RAPL2, TNF, CSF1, IL10
28calcitriol43 59 24 1211.7TNF, IL10, IL1B, CSF1, TLR4
29actinomycin d438.7IL1RAPL2, TNF, CSF1, TLR4, IL1B
30muramyl dipeptide43 289.6NOD1, TLR4, IL1B, DPEP1, NOD2
31ly294002438.6TNF, TLR4, IL10, CSF1, IL1B
32simvastatin43 49 59 28 24 1213.6TNF, MVK, IL1RAPL2, TLR4, IL10
33indomethacin43 28 59 1211.5CSF1, TNF, DPEP1, IL1RAPL2, IL1B
34superoxide43 249.4TLR4, TNF, IL1RAPL2, IL1B, CSF1
35infliximab43 49 1210.4IL10, IL1RAPL2, NOD2, TNF, TLR4, IL1B
36mannose438.4TLR4, IL1RAPL2, CSF1, NOD2, DPEP1
37thymidine43 249.3CSF1, IL10, IL1RAPL2, TNF, IL1B
38methotrexate49 43 1210.3NLRP3, TLR4, TNF, IL1B, IL10, IL1RAPL2
39tgf beta1438.2CSF1, IL10, IL1B, IL1RAPL2, TNF, TLR4
40ionomycin438.2CSF1, TNF, DPEP1, IL10
41rantes438.2CSF1, IL10, IL1RAPL2, TNF, TLR4, IL1B
42histamine43 28 2410.2CSF1, IL10, IL1RAPL2, IL1B, TLR4, TNF
43cycloheximide438.2TLR4, CSF1, IL1B, IL10, IL1RAPL2, TNF
44dexamethasone43 49 28 1211.1IL10, IL1RAPL2, TNF, TLR4, IL1B, CSF1
45il 10438.0IL1B, IL10, CSF1, NOD2, TNF, TLR4
46vegf438.0TLR4, IL1B, IL10, IL1RAPL2, TNF, CSF1
47nitric oxide43 24 129.5NOD2, IL1RAPL2, IL10, IL1B, DPEP1, TNF
48pge2437.4IL1B, DPEP1, IL1RAPL2, IL10, CSF1, TNF
49peptidoglycan43 288.3IL10, DPEP1, IL1B, TLR4, TNF, NOD1
50endotoxin437.3MEFV, 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
1sequestering of triglycerideGO:003073010.2IL1B, TNF
2interleukin-1 beta productionGO:003261110.2IL1B, NLRP3
3positive regulation of calcidiol 1-monooxygenase activityGO:006055910.2IL1B, TNF
4positive regulation of heterotypic cell-cell adhesionGO:003411610.2TNF, IL1B
5positive regulation of fever generationGO:003162210.2TNF, IL1B
6positive regulation of humoral immune response mediated by circulating immunoglobulinGO:000292510.2TNF, NOD2
7negative regulation of inflammatory responseGO:005072810.0MEFV, MVK, NLRP3
8detection of biotic stimulusGO:000959510.0NLRP3, NOD1, NOD2
9protein oligomerizationGO:00512599.9NLRP3, NOD1, NOD2
10receptor biosynthetic processGO:00328009.9IL10, TNF
11defense response to Gram-positive bacteriumGO:00508309.9TNF, NOD1, NOD2
12defense responseGO:00069529.9NOD2, NOD1, NLRP3
13JNK cascadeGO:00072549.9TNF, NOD1, NOD2
14positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.8TNF, NLRP3, NOD1
15negative regulation of cytokine secretion involved in immune responseGO:00027409.8TNF, IL10
16positive regulation of dendritic cell antigen processing and presentationGO:00026069.8NOD1, NOD2
17negative regulation of interleukin-12 productionGO:00326959.8NOD2, IL10, MEFV
18positive regulation of chemokine biosynthetic processGO:00450809.8IL1B, TNF
19positive regulation of NF-kappaB import into nucleusGO:00423469.8TLR4, TNF, IL1B
20lipopolysaccharide-mediated signaling pathwayGO:00316639.7IL1B, TNF, TLR4
21positive regulation of nitric oxide biosynthetic processGO:00454299.7TLR4, TNF, IL1B
22nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.7NOD2, NOD1, NLRP3, MEFV
23negative regulation of growth of symbiont in hostGO:00441309.7TNF, IL10, NOD2
24positive regulation of interferon-gamma productionGO:00327299.7TLR4, TNF, IL1B
25positive regulation of tumor necrosis factor productionGO:00327609.7NOD2, NOD1, TLR4
26activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.7TNF, NLRP3, NOD1
27toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.6TLR4, NOD1, NOD2
28toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.6TLR4, NOD1, NOD2
29toll-like receptor 2 signaling pathwayGO:00341349.6NOD2, NOD1, TLR4
30TRIF-dependent toll-like receptor signaling pathwayGO:00356669.5NOD2, NOD1, TLR4
31MyD88-independent toll-like receptor signaling pathwayGO:00027569.5TLR4, NOD1, NOD2
32negative regulation of interferon-gamma productionGO:00326899.5TLR4, IL10, NOD2
33negative regulation of tumor necrosis factor productionGO:00327209.5TLR4, IL10, NOD2
34MyD88-dependent toll-like receptor signaling pathwayGO:00027559.5TLR4, NOD1, NOD2
35toll-like receptor 3 signaling pathwayGO:00341389.5NOD2, NOD1, TLR4
36negative regulation of interleukin-6 productionGO:00327159.4IL10, TNF, TLR4
37positive regulation of ERK1 and ERK2 cascadeGO:00703749.4TLR4, TNF, NOD1, NOD2
38positive regulation of MHC class II biosynthetic processGO:00453489.4TLR4, IL10
39positive regulation of interleukin-8 biosynthetic processGO:00454169.3TNF, TLR4
40cellular response to lipopolysaccharideGO:00712229.3TLR4, IL10, NLRP3
41positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.2IL1B, IL10, TNF
42positive regulation of interleukin-6 productionGO:00327559.1NOD2, NOD1, IL1B, TNF, TLR4
43positive regulation of JNK cascadeGO:00463309.1TLR4, TNF, IL1B, NOD1, NOD2
44activation of MAPK activityGO:00001879.1NOD2, NOD1, IL1B, TNF, TLR4
45positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1TLR4, TNF, IL1B, NOD1, NOD2
46defense response to bacteriumGO:00427429.1NOD2, NOD1, IL10, TLR4
47positive regulation of NF-kappaB transcription factor activityGO:00510928.8TLR4, TNF, IL1B, NLRP3, NOD1, NOD2
48innate immune responseGO:00450878.8NOD2, NOD1, NLRP3, CSF1, MEFV, TLR4
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.6TLR4, TNF, IL10, IL1B, NOD2
50inflammatory responseGO:00069548.4TNF, MEFV, IL10, IL1B, CSF1, NLRP3

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

Products for genes affiliated with Blau Syndrome

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  • Antibodies
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Sources for Blau Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet