ACUG
MCID: BLS001
MIFTS: 59

Blau Syndrome (ACUG) malady

Eye, Respiratory, Bone, Skin, Blood, Neuronal, Ear, Genetic categories

Summaries for Blau Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to arthritis and uveitis, and has symptoms including facial palsy, autosomal dominant inheritance and respiratory distress/dyspnea/respiratory failure/lung volume reduction. An important gene associated with Blau Syndrome is NOD2 (nucleotide-binding oligomerization domain containing 2), and among its related pathways are B cell receptor signaling pathway and Malaria. The compounds pentoxifylline and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related mouse phenotypes are skeleton and reproductive system.

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:47 186580,609464

Aliases & Classifications for Blau Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Eye, Respiratory, Bone, Skin, Blood, Neuronal, Ear


Characteristics (Orphanet epidemiological data):

49
blau syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

blau syndrome 8 9 43 20 22 21 47 10 45 49
arthrocutaneouveal granulomatosis 8 43 21
granulomatous inflammatory arthritis, dermatitis, and uveitis, familial 43 21
sarcoidosis, early-onset 47 61
synovitis, granulomatous, with uveitis and cranial neuropathies 61
granulomatosis, familial juvenile systemic 43
familial juvenile systemic granulomatosis 21
granulomatosis, familial, blau type 43
familial granulomatosis, blau type 21
pediatric granulomatous arthritis 21
early-onset sarcoidosis 21
jabs syndrome 8
acug 43


External Ids:

Disease Ontology8 DOID:0050678
OMIM47 186580

Related Diseases for Blau Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.6NLRP3, TLR4, MVK, CSF1, TNF, PSTPIP1
2uveitis30.5TNF, IL10, NOD2
3crohn's disease30.1NOD1, NOD2, TNF
4vasculitis30.0TNF, MEFV, IL1RAPL2
5n syndrome10.7
6cooper-jabs syndrome10.3
7choroiditis10.2
8multifocal choroiditis10.2
9iritis10.2
10granulomatous dermatitis10.2
11cardiac sarcoidosis10.1
12aortitis10.1
13juvenile rheumatoid arthritis10.1
14sarcoidosis 110.1
15craniolenticulosutural dysplasia10.1
16renal clear cell carcinoma10.1
17takayasu's arteritis10.1
18retinal vasculitis10.1
19char syndrome10.1
20clear cell renal cell carcinoma10.1
21spondylitis10.0NOD2
22colorectal cancer10.0NOD2
23bacterial vaginosis10.0IL1B
24palindromic rheumatism10.0MEFV
25gingivitis10.0IL1B
26acute myocardial infarction10.0MEFV
27brucellosis10.0MEFV
28meningitis10.0IL1B
29pulmonary fibrosis10.0IL1B
30eye disease10.0IL1B
31pulmonary disease, chronic obstructive10.0IL1B
32degenerative disc disease10.0IL1B
33endometriosis10.0IL1B
34pericarditis10.0MEFV
35shigellosis10.0IL1B
36otitis media10.0IL1B
37measles10.0CSF1
38pulmonary alveolar proteinosis10.0CSF1
39stroke, ischemic10.0CSF1
40hyper-igd syndrome10.0MVK
41neutropenia10.0CSF1
42myelodysplastic syndromes10.0CSF1
43obesity10.0TNF
44alzheimer's disease10.0IL1B
45myopathy10.0MVK
46acne10.0PSTPIP1
47mevalonic aciduria10.0MVK
48amyotrophic lateral sclerosis10.0CSF1
49dermatitis10.0NLRP3, NOD2
50erysipelas10.0MEFV

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



Diseases related to blau syndrome

Clinical Features for Blau Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

186580,609464

Clinical synopsis from OMIM:

186580

Symptoms:

49 (show all 43)
  • facial palsy
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic arterial hypertension
  • cataract/lens opacification
  • splenomegaly
  • arthritis/synovitis/synovial proliferation
  • restricted joint mobility/joint stiffness/ankylosis
  • ichthyosis/ichthyosiform dermatitis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • photophobia
  • renal disease/nephropathy
  • retinopathy
  • renal failure
  • fever/chilling
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • anaemia
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • follicular/erythematous/edematous papules/milium
  • central neuropathy
  • mouth dryness/xerostomia
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • pulmonary hypertension
  • purpura/petichiae
  • functional anomalies of the liver and the biliary tract
  • interstitial nephropathy
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • glaucoma
  • aortic root dilatation/dilation/aneurysm
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • vascularitis/vasculitides/arteritis
  • camptodactyly of fingers
  • lymphadenopathy/polyadenopathies
  • retrobulbar optic neuritis
  • choroidal anomalies/atrophy/choroideremia
  • anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct

Drugs & Therapeutics for Blau Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Blau Syndrome

Drug clinical trials:

Search ClinicalTrials for Blau Syndrome

Search NIH Clinical Center for Blau Syndrome

Search CenterWatch for Blau Syndrome

Genetic Tests for Blau Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Blau Syndrome:

id Genetic test Affiliating Genes
1 Blau Syndrome20 22 NOD2

Anatomical Context for Blau Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Blau Syndrome:

33
Skin, Liver

Animal Models for Blau Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Blau Syndrome

Sources:
51PubMed
See all sources

Articles related to Blau Syndrome:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
2
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
3
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
4
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. (23699845)
2013
5
The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. (23678609)
2013
6
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
7
Blau syndrome, clinical and genetic aspects. (22884558)
2012
8
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. (22509093)
2012
9
Immunohistochemical evidence of specific iris involvement in Blau syndrome. (23215732)
2012
10
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
11
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
12
Blau syndrome revisited. (21788900)
2011
13
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
14
Blau syndrome. (20947513)
2011
15
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
16
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
17
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
18
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. (19180500)
2009
19
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
20
Two pediatric cases of Blau syndrome. (20040255)
2009
21
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. (18718560)
2009
22
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
23
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
24
Interleukin-1beta suppression in Blau syndrome: comment on the article by Martin et al. (19644875)
2009
25
Leg ulcers: a new symptom of Blau syndrome? (18955195)
2008
26
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
27
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. (17096091)
2007
28
Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis. (20298285)
2007
29
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. (17372104)
2007
30
Blau syndrome associated with a CARD15/NOD2 mutation. (17157607)
2006
31
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. (17207093)
2006
32
Blau syndrome presenting with ichthyosis. (15670175)
2005
33
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
34
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. (15459013)
2005
35
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. (15693102)
2005
36
A new CARD15 mutation in Blau syndrome. (15812565)
2005
37
Blau syndrome. (15051234)
2004
38
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. (15554080)
2004
39
Bupropion for Blau syndrome. (14962643)
2004
40
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. (14522785)
2003
41
Blau syndrome: a new kindred. (12894082)
2003
42
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. (12186634)
2002
43
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. (12051637)
2002
44
CARD15 mutations in Blau syndrome. (11528384)
2001
45
The Blau syndrome gene is not a major risk factor for sarcoidosis. (10560124)
1999
46
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. (9738733)
1998
47
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. (9508240)
1998
48
Liver involvement in familial granulomatous arthritis (Blau syndrome). (8882056)
1996
49
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. (8394645)
1993
50
Blau syndrome versus sarcoidosis. (1880674)
1991

Genetic Variations for Blau Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Blau Syndrome:

63
id Symbol AA change Variation SNP ID
1NOD2p.Arg334GlnVAR_012676
2NOD2p.Arg334TrpVAR_012677
3NOD2p.Leu469PheVAR_012685
4NOD2p.Ala612ThrVAR_012686
5NOD2p.Asp382GluVAR_023822
6NOD2p.Glu383LysVAR_023823
7NOD2p.His496LeuVAR_023824
8NOD2p.Thr605AsnVAR_065228

Expression for genes affiliated with Blau Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Blau Syndrome

Search GEO for disease gene expression data for Blau Syndrome.

Pathways for genes affiliated with Blau Syndrome

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 53R&D Systems
See all sources

Pathways related to Blau Syndrome according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1PSTPIP1
29.9TLR4
39.9TLR4
4
Hide members
9.6IL1B, NOD2, NOD1
5
Hide members
9.6NOD1, NOD2, IL1B
69.5CSF1, TNF, IL1B
79.5CSF1, TNF, IL1B
89.5IL1B, TNF, CSF1
9
Hide members
9.5NLRP3, PSTPIP1, MEFV
10
Hide members
9.5TLR4, CSF1
119.4TNF, IL10, IL1B
12
Development PDGF signaling via STATs and NF-kB
Hide members
9.4IL1B, IL10, TNF
139.4IL1B, IL10, TNF
149.3NOD2, IL1B, TNF, CSF1
15
Immune response Bacterial infections in normal airways
Hide members
9.3IL1B, TNF, TLR4
169.3IL1B, TNF, TLR4
17
Hide members
9.3IL1B, TNF, TLR4
189.3IL1B, TNF, TLR4
19
Hide members
9.3IL1B, TNF, TLR4
209.3TLR4, TNF, IL1B
21
Hide members
9.3TLR4, TNF, IL1B
22
Hide members
9.3TLR4, NOD2, NOD1
23
Hide members
9.0IL1B, TNF, TLR4, NLRP3
248.9TLR4, CSF1, TNF, IL1B
258.9NOD1, IL1B, TNF, TLR4
268.7IL1B, IL10, TNF, TLR4
27
Hide members
8.7TLR4, TNF, IL10, IL1B
28
Hide members
8.7TLR4, TNF, IL10, IL1B
298.7TLR4, TNF, IL10, IL1B
308.5TLR4, TNF, IL10, IL1B, NOD2
31
Hide members
8.5NOD2, IL1B, IL10, TNF, TLR4
32
Hide members
8.4IL1B, IL10, TNF, CSF1, TLR4
33
Hide members
8.4NLRP3, TLR4, TNF, IL1B, NOD2, NOD1
34
Hide members
8.4NOD1, NLRP3, TNF, PSTPIP1, MEFV, IL1B
358.1NLRP3, TLR4, TNF, IL10, IL1B, NOD1

Compounds for genes affiliated with Blau Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Blau Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1pentoxifylline45 1111.3IL1RAPL2
2cycloheximide4510.3IL1RAPL2
3fk 5654510.1NOD1, NOD2
4gm-csf45 2911.1IL10, TNF
5fmlp4510.0CSF1, IL1RAPL2
6endotoxin459.8MEFV, DPEP1
7prednisolone45 29 1111.8NOD2, IL1RAPL2, CSF1
8toxin-1459.7IL1B, IL10, TNF
9mip 1alpha459.7TNF, IL10, IL1B
10diaminopimelic acid459.7TLR4, NOD1, NOD2
11il-12459.6IL1B, IL10, TNF
125 aminosalicylic acid459.6IL1B, IL10, TNF
13budesonide45 50 1111.6TNF, CSF1, IL1B
14groalpha459.5IL10, TNF, IL1B
15leflunomide50 45 1111.5IL1RAPL2, TNF, IL1B
16fluticasone propionate45 50 60 1112.4TNF, CSF1, IL1B
17sulfasalazine45 29 50 1112.4IL1RAPL2, TNF, CSF1, IL1B
18adalimumab45 50 1111.4IL1RAPL2, IL10, TNF
19leukotriene b445 60 2411.3CSF1, IL1B, IL1RAPL2, TNF
20anakinra45 1110.3IL1RAPL2, NLRP3, MVK, TNF, IL1B
21thalidomide45 50 60 1112.2SPG7, IL1B, TNF, IL10
22polymyxin b459.2IL1B, TNF, TLR4, IL10
23lipoteichoic acid459.1IL1B, IL10, TLR4, TNF
24ccl345 2910.1TLR4, TNF, IL10, IL1B
25indomethacin45 60 29 1112.1DPEP1, IL1RAPL2, CSF1
26muramyl tripeptide phosphatidylethanolamine459.1IL1B, DPEP1
27etanercept45 50 1110.9TNF, CSF1, IL1B, IL10, IL1RAPL2
28ivig458.9TNF, IL10, IL1RAPL2, CSF1, IL1B
29imiquimod45 29 60 1111.9TNF, IL10, TLR4, IL1RAPL2
30neopterin458.9IL10, IL1RAPL2, IL1B, CSF1, TNF
31methotrexate45 50 1110.9IL10, IL1B, IL1RAPL2, TNF, NLRP3
32polyinosinic-polycytidylic acid458.8IL10, IL1B, TNF, CSF1, TLR4
33c2ceramide458.8TLR4, CSF1, IL1RAPL2, IL1B, TNF
34rantes458.8CSF1, IL1RAPL2, TNF, IL1B, TLR4
35calcitriol45 60 11 2411.8IL1B, IL10, TNF, CSF1, TLR4
36simvastatin45 50 60 29 11 2413.6IL10, TNF, MVK, IL1RAPL2, TLR4
37ly294002458.6IL1B, TNF, TLR4, CSF1, IL10
38actinomycin d458.6IL1B, IL1RAPL2, TNF, CSF1, TLR4
39muramyl dipeptide45 299.6TLR4, IL1B, NOD2, NOD1, DPEP1
40ionomycin458.5CSF1, TNF, DPEP1, IL10
41infliximab45 50 1110.4IL1RAPL2, IL10, TNF, IL1B, NOD2, TLR4
42tgf beta1458.3CSF1, IL1RAPL2, TNF, IL10, TLR4, IL1B
43mannose458.3CSF1, DPEP1, IL1RAPL2, NOD2, TLR4
44histamine45 29 2410.3IL1B, IL1RAPL2, IL10, TNF, CSF1, TLR4
45il 10458.1NOD2, IL1RAPL2, IL10, TNF, CSF1, TLR4
46dexamethasone45 50 29 1111.1IL1RAPL2, TNF, IL10, CSF1, IL1B, TLR4
47vegf457.9TLR4, IL1RAPL2, IL1B, CSF1, TNF, IL10
48nitric oxide45 11 249.5TLR4, NOD2, IL1RAPL2, IL10, DPEP1, TNF
49pge2457.5TLR4, CSF1, TNF, DPEP1, IL10, IL1RAPL2
50peptidoglycan45 298.5TLR4, NOD1, NOD2, IL1B, IL10, ATN1

GO Terms for genes affiliated with Blau Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Blau Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.2IL1B, IL10, DPEP1, TNF, CSF1

Biological processes related to Blau Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1sequestering of triglycerideGO:03073010.3IL1B, TNF
2positive regulation of humoral immune response mediated by circulating immunoglobulinGO:00292510.3TNF, NOD2
3positive regulation of calcidiol 1-monooxygenase activityGO:06055910.3IL1B, TNF
4positive regulation of heterotypic cell-cell adhesionGO:03411610.2TNF, IL1B
5positive regulation of fever generationGO:03162210.2TNF, IL1B
6positive regulation of dendritic cell antigen processing and presentationGO:00260610.2NOD2, NOD1
7negative regulation of inflammatory responseGO:05072810.1MEFV, MVK, NLRP3
8detection of biotic stimulusGO:00959510.0NLRP3, NOD2, NOD1
9positive regulation of chemokine biosynthetic processGO:04508010.0TNF, IL1B
10receptor biosynthetic processGO:03280010.0IL10, TNF
11negative regulation of cytokine secretion involved in immune responseGO:00274010.0TNF, IL10
12protein oligomerizationGO:05125910.0NLRP3, NOD2, NOD1
13defense response to Gram-positive bacteriumGO:05083010.0NOD1, NOD2, TNF
14positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0432809.9NLRP3, TNF, NOD1
15defense responseGO:0069529.9NOD1, NOD2, NLRP3
16JNK cascadeGO:0072549.9NOD1, NOD2, TNF
17negative regulation of interleukin-12 productionGO:0326959.9MEFV, IL10, NOD2
18negative regulation of growth of symbiont in hostGO:0441309.9NOD2, IL10, TNF
19positive regulation of interleukin-8 biosynthetic processGO:0454169.7TLR4, TNF
20positive regulation of NF-kappaB import into nucleusGO:0423469.7TLR4, TNF, IL1B
21lipopolysaccharide-mediated signaling pathwayGO:0316639.7TLR4, TNF, IL1B
22positive regulation of nitric oxide biosynthetic processGO:0454299.7IL1B, TNF, TLR4
23positive regulation of interferon-gamma productionGO:0327299.7TLR4, TNF, IL1B
24positive regulation of tumor necrosis factor productionGO:0327609.6TLR4, NOD2, NOD1
25positive regulation of MHC class II biosynthetic processGO:0453489.6TLR4, IL10
26positive regulation of nitric-oxide synthase biosynthetic processGO:0517709.6NOD2, TLR4
27regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431229.6IL1B, TNF
28positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.6IL1B, IL10, TNF
29activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.5NLRP3, TNF, NOD1
30toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.5NOD1, NOD2, TLR4
31negative regulation of interferon-gamma productionGO:0326899.5NOD2, IL10, TLR4
32negative regulation of tumor necrosis factor productionGO:0327209.5NOD2, IL10, TLR4
33toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.5NOD1, NOD2, TLR4
34toll-like receptor 2 signaling pathwayGO:0341349.5TLR4, NOD2, NOD1
35TRIF-dependent toll-like receptor signaling pathwayGO:0356669.5NOD1, NOD2, TLR4
36negative regulation of interleukin-6 productionGO:0327159.5TLR4, TNF, IL10
37nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.4NLRP3, PSTPIP1, MEFV, NOD2, NOD1
38cellular response to lipopolysaccharideGO:0712229.4IL10, TLR4, NLRP3
39positive regulation of ERK1 and ERK2 cascadeGO:0703749.4TLR4, TNF, NOD2, NOD1
40MyD88-independent toll-like receptor signaling pathwayGO:0027569.4NOD1, NOD2, TLR4
41toll-like receptor 3 signaling pathwayGO:0341389.3TLR4, NOD2, NOD1
42MyD88-dependent toll-like receptor signaling pathwayGO:0027559.2TLR4, NOD2, NOD1
43defense response to bacteriumGO:0427429.1TLR4, IL10, NOD2, NOD1
44positive regulation of interleukin-6 productionGO:0327559.1NOD1, NOD2, IL1B, TNF, TLR4
45positive regulation of JNK cascadeGO:0463309.1TLR4, TNF, IL1B, NOD2, NOD1
46activation of MAPK activityGO:0001879.1NOD1, NOD2, IL1B, TNF, TLR4
47positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431239.1TLR4, TNF, IL1B, NOD2, NOD1
48positive regulation of NF-kappaB transcription factor activityGO:0510928.8NLRP3, TLR4, TNF, IL1B, NOD2, NOD1
49inflammatory responseGO:0069548.6NLRP3, CSF1, TNF, MEFV, IL10, IL1B
50innate immune responseGO:0450878.4NLRP3, TLR4, CSF1, PSTPIP1, MEFV, NOD2

Molecular functions related to Blau Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1CARD domain bindingGO:0507009.9NOD1, NOD2
2peptidoglycan bindingGO:0428349.5NOD1, NOD2, NLRP3
3cytokine activityGO:0051258.7IL1B, IL10, TNF, CSF1

Products for genes affiliated with Blau Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Blau Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet