ACUG
MCID: BLS001
MIFTS: 71

Blau Syndrome (ACUG) malady

Genetic diseases, Rare diseases, Eye diseases, Respiratory diseases, Bone diseases, Skin diseases, Blood diseases, Neuronal diseases categories

Summaries for Blau Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 sarcoidosis and arthritis, and has symptoms including kidney/renal neoplasm/tumor/carcinoma/cancer, glaucoma and vascularitis/vasculitides/arteritis. 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, liver and eye, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Genetics Home Reference:22 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:66 Blau syndrome is characterized by familial granulomatous arthritis, uveitis, and skin granulomas,... more...

Description from OMIM:48 186580,609464

Aliases & Classifications for Blau Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS
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Classifications:



Characteristics (Orphanet epidemiological data):

50
blau syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

blau syndrome 9 10 44 21 23 22 48 11 46 50
arthrocutaneouveal granulomatosis 9 44 22
granulomatous inflammatory arthritis, dermatitis, and uveitis, familial 44 22
sarcoidosis, early-onset 48 63
jabs syndrome 9 44
synovitis, granulomatous, with uveitis and cranial neuropathies 63
synovitis granulomatous with uveitis and cranial neuropathies 44
granulomatosis, familial juvenile systemic 44
familial juvenile systemic granulomatosis 22
granulomatosis, familial, blau type 44
familial granulomatosis, blau type 22
pediatric granulomatous arthritis 22
early-onset sarcoidosis 22
acug 44


External Ids:

Disease Ontology9 DOID:0050678
OMIM48 186580

Related Diseases for Blau Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Blau Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis30.9IL1B, TNF, NOD2, IL1RAPL2
2arthritis30.8TNF, IL1B
3uveitis30.6TNF, IL10, NOD2
4juvenile rheumatoid arthritis30.2TNF, IL1RAPL2
5vasculitis30.2IL1RAPL2, TNF, MEFV
6rheumatoid arthritis29.8NOD2, TLR4, TNF, IL10, MEFV, IL1RAPL2
7cooper-jabs syndrome10.3
8craniolenticulosutural dysplasia10.2
9iritis10.2
10granulomatous dermatitis10.2
11dermatitis10.2
12choroiditis10.2
13multifocal choroiditis10.2
14palindromic rheumatism10.1MEFV
15cervical adenitis10.1MVK
16degenerative disc disease10.1IL1B
17erysipelas10.1MEFV
18hyper-igd syndrome10.1MVK
19spondylitis10.1NOD2
20aortitis10.1
21sarcoidosis 110.1
22malignant histiocytosis10.1CSF1
23relapsing fever10.1MVK, MEFV
24retinal vasculitis10.1
25renal clear cell carcinoma10.1
26neuropathy10.1
27retinitis10.1
28aneurysm10.1
29psoriatic arthritis10.1TNF
30synovitis10.1IL1B, TNF
31filariasis10.1TLR4
32pleurisy10.1MEFV, IL1B
33aids dementia complex10.1TNF, IL1B
34familial cold autoinflammatory syndrome10.1IL1B, MEFV, NLRP3
35periodic fever, familial, autosomal dominant10.1MVK, MEFV, TNF
36interstitial lung disease10.1IL1B, TNF
37gout10.1IL1B, NLRP3
38familial mediterranean fever10.1TNF, NLRP3, MEFV
39pouchitis10.1NOD2, TLR4
40toxic shock syndrome10.1TNF, IL1B
41mastitis10.1IL1B, TLR4
42peritonitis10.1MEFV, TNF, IL1B
43pyelonephritis10.1DPEP1, TLR4
44adult-onset still's disease10.1CSF1, IL1RAPL2
45pyoderma gangrenosum10.0NOD2, NLRP3, MVK, MEFV
46ulcerative colitis10.0NOD2, TNF, NOD1
47crohn's disease10.0NOD1, NOD2, TNF
48malaria10.0TNF, IL10
49visceral leishmaniasis10.0DPEP1, IL10
50periodontitis10.0IL1B, TLR4

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



Diseases related to blau syndrome

Symptoms for Blau Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

186580

Clinical features from OMIM:

186580,609464

Symptoms:

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

Drugs & Therapeutics for Blau Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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21GeneTests, 23GTR
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Genetic tests related to Blau Syndrome:

id Genetic test Affiliating Genes
1 Blau Syndrome21 23 NOD2

Anatomical Context for Blau Syndrome

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34MalaCards
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MalaCards organs/tissues related to Blau Syndrome:

34
Skin, Liver, Eye, Lung, Kidney, Bone, Salivary gland

Animal Models for Blau Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Blau Syndrome:

38 (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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53PubMed
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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
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
5
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. (23699845)
2013
6
The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. (23678609)
2013
7
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
8
Blau syndrome, clinical and genetic aspects. (22884558)
2012
9
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. (22509093)
2012
10
Immunohistochemical evidence of specific iris involvement in Blau syndrome. (23215732)
2012
11
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
12
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
13
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
14
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
15
Blau syndrome revisited. (21788900)
2011
16
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
17
Blau syndrome. (20947513)
2011
18
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
19
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
20
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
21
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
22
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. (20199415)
2010
23
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. (19180500)
2009
24
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
25
Two pediatric cases of Blau syndrome. (20040255)
2009
26
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. (18718560)
2009
27
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
28
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
29
Interleukin-1beta suppression in Blau syndrome: comment on the article by Martin et al. (19644875)
2009
30
Leg ulcers: a new symptom of Blau syndrome? (18955195)
2008
31
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? (18061972)
2007
32
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
33
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. (17393391)
2007
34
Blau syndrome associated with a CARD15/NOD2 mutation. (17157607)
2006
35
Blau syndrome presenting with ichthyosis. (15670175)
2005
36
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
37
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. (15459013)
2005
38
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. (15693102)
2005
39
A new CARD15 mutation in Blau syndrome. (15812565)
2005
40
Blau syndrome. (15051234)
2004
41
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. (15554080)
2004
42
Bupropion for Blau syndrome. (14962643)
2004
43
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. (14522785)
2003
44
Blau syndrome: a new kindred. (12894082)
2003
45
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. (12186634)
2002
46
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. (12051637)
2002
47
CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. (12428248)
2002
48
CARD15 mutations in Blau syndrome. (11528384)
2001
49
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000
50
Liver involvement in familial granulomatous arthritis (Blau syndrome). (8882056)
1996

Variations for Blau Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Blau Syndrome:

65
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Blau Syndrome:

1
id Gene Name 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.1487A> T (p.His496Leu)single nucleotide variantPathogenicrs104895472GRCh37Chr 16, 50745309: 50745309
5NOD2NM_022162.1(NOD2): c.1146C> G (p.Asp382Glu)single nucleotide variantPathogenicrs104895476GRCh37Chr 16, 50744968: 50744968
6NOD2NM_022162.1(NOD2): c.1834G> A (p.Ala612Thr)single nucleotide variantPathogenicrs104895438GRCh37Chr 16, 50745656: 50745656
7NOD2NM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 54QIAGEN, 39NCBI BioSystems Database, 55R&D Systems, 56Reactome, 31KEGG, 61Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Blau Syndrome according to GeneCards/GeneDecks:

(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 Activity39
9.9TNF, IL1B
49.9IL1B, TNF
5
Show member pathways
9.5TNF, IL10
6
Show member pathways
IL-1 Signaling Pathway39
IL1-mediated signaling events39
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 pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
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 response61
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 events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.2IL1B, TNF, IL10
26
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
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 pathway39
Regulation of toll-like receptor signaling pathway39
8.7IL1B, IL10, TNF, TLR4
378.7TNF, IL10, TLR4, IL1B
38
Show member pathways
IL27-mediated signaling events39
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 pathways61
Immune response IL 1 signaling pathway61
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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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Blau Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1fk 565469.9NOD1, NOD2
2diaminopimelic acid469.7TLR4, NOD1, NOD2
3toxin-1469.6TNF, IL10, IL1B
4mip 1alpha469.5IL1B, IL10, TNF
55 aminosalicylic acid469.5IL10, TNF, IL1B
6leflunomide46 52 1211.5IL1B, IL1RAPL2, TNF
7il-12469.5TNF, IL10, IL1B
8groalpha469.3TNF, IL1B, IL10
9sulfasalazine30 46 52 1212.3TNF, IL1RAPL2, IL1B, CSF1
10gm-csf46 3010.3TNF, IL10, IL1B, CSF1
11leukotriene b446 62 2511.3CSF1, TNF, IL1B, IL1RAPL2
12anakinra46 1210.2NLRP3, TNF, MVK, IL1RAPL2, IL1B
13adalimumab46 52 1211.2TNF, IL1RAPL2, IL10
14budesonide46 52 1211.2TNF, CSF1, IL1B
15polymyxin b469.1TLR4, IL1B, IL10, TNF
16lipoteichoic acid469.1IL1B, IL10, TNF, TLR4
17thalidomide46 52 62 1212.1TNF, IL10, IL1B, SPG7
18pentoxifylline46 1210.1TNF, IL1RAPL2, IL10, IL1B
19ccl346 3010.1TLR4, TNF, IL10, IL1B
20imiquimod46 62 30 1211.9IL10, IL1RAPL2, TNF, TLR4
21c2ceramide468.9TLR4, IL1RAPL2, TNF, IL1B, CSF1
22fmlp468.8TNF, IL1RAPL2, IL1B, CSF1, TLR4
23prednisolone46 30 1210.8TNF, CSF1, IL1RAPL2, IL10, NOD2
24polyinosinic-polycytidylic acid468.8IL1B, CSF1, IL10, TNF, TLR4
25etanercept46 52 1210.8TNF, CSF1, IL1B, IL10, IL1RAPL2
26ivig468.8TNF, IL10, IL1RAPL2, CSF1, IL1B
27neopterin468.8IL1B, IL1RAPL2, TNF, CSF1, IL10
28calcitriol46 62 25 1211.7TNF, IL10, IL1B, CSF1, TLR4
29actinomycin d468.7IL1RAPL2, TNF, CSF1, TLR4, IL1B
30muramyl dipeptide46 309.6NOD1, TLR4, IL1B, DPEP1, NOD2
31ly294002468.6TNF, TLR4, IL10, CSF1, IL1B
32simvastatin46 52 62 30 25 1213.6TNF, MVK, IL1RAPL2, TLR4, IL10
33indomethacin46 30 62 1211.5CSF1, TNF, DPEP1, IL1RAPL2, IL1B
34superoxide46 259.4TLR4, TNF, IL1RAPL2, IL1B, CSF1
35infliximab46 52 1210.4IL10, IL1RAPL2, NOD2, TNF, TLR4, IL1B
36mannose468.4TLR4, IL1RAPL2, CSF1, NOD2, DPEP1
37thymidine46 259.3CSF1, IL10, IL1RAPL2, TNF, IL1B
38methotrexate52 46 1210.3NLRP3, TLR4, TNF, IL1B, IL10, IL1RAPL2
39tgf beta1468.2CSF1, IL10, IL1B, IL1RAPL2, TNF, TLR4
40ionomycin468.2CSF1, TNF, DPEP1, IL10
41rantes468.2CSF1, IL10, IL1RAPL2, TNF, TLR4, IL1B
42histamine46 30 2510.2CSF1, IL10, IL1RAPL2, IL1B, TLR4, TNF
43cycloheximide468.2TLR4, CSF1, IL1B, IL10, IL1RAPL2, TNF
44dexamethasone46 52 30 1211.1IL10, IL1RAPL2, TNF, TLR4, IL1B, CSF1
45il 10468.0IL1B, IL10, CSF1, NOD2, TNF, TLR4
46vegf468.0TLR4, IL1B, IL10, IL1RAPL2, TNF, CSF1
47nitric oxide46 25 129.5NOD2, IL1RAPL2, IL10, IL1B, DPEP1, TNF
48pge2467.4IL1B, DPEP1, IL1RAPL2, IL10, CSF1, TNF
49peptidoglycan46 308.3IL10, DPEP1, IL1B, TLR4, TNF, NOD1
50endotoxin467.3MEFV, IL1B, NOD2, TLR4, TNF, DPEP1

GO Terms for genes affiliated with Blau Syndrome

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17Gene Ontology
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Cellular components related to Blau Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.0CSF1, IL1B, IL10, DPEP1, TNF

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

(show top 50)    (show all 72)
idNameGO IDScoreTop Affiliating Genes
1interleukin-1 beta productionGO:03261110.2NLRP3, IL1B
2sequestering of triglycerideGO:03073010.2TNF, IL1B
3positive regulation of calcidiol 1-monooxygenase activityGO:06055910.2IL1B, TNF
4positive regulation of heterotypic cell-cell adhesionGO:03411610.2TNF, IL1B
5positive regulation of humoral immune response mediated by circulating immunoglobulinGO:00292510.2NOD2, TNF
6positive regulation of fever generationGO:03162210.2TNF, IL1B
7negative regulation of inflammatory responseGO:05072810.0NLRP3, MVK, MEFV
8detection of biotic stimulusGO:00959510.0NOD1, NLRP3, NOD2
9protein oligomerizationGO:0512599.9NOD1, NOD2, NLRP3
10receptor biosynthetic processGO:0328009.9IL10, TNF
11defense response to Gram-positive bacteriumGO:0508309.9NOD2, NOD1, TNF
12defense responseGO:0069529.9NOD2, NLRP3, NOD1
13positive regulation of dendritic cell antigen processing and presentationGO:0026069.9NOD1, NOD2
14JNK cascadeGO:0072549.9TNF, NOD2, NOD1
15negative regulation of cytokine secretion involved in immune responseGO:0027409.9TNF, IL10
16positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0432809.8NOD1, NLRP3, TNF
17negative regulation of interleukin-12 productionGO:0326959.8NOD2, MEFV, IL10
18positive regulation of chemokine biosynthetic processGO:0450809.8IL1B, TNF
19positive regulation of NF-kappaB import into nucleusGO:0423469.8IL1B, TNF, TLR4
20lipopolysaccharide-mediated signaling pathwayGO:0316639.7IL1B, TLR4, TNF
21positive regulation of nitric oxide biosynthetic processGO:0454299.7IL1B, TNF, TLR4
22nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.7NOD2, NOD1, NLRP3, MEFV
23negative regulation of growth of symbiont in hostGO:0441309.7NOD2, IL10, TNF
24positive regulation of interferon-gamma productionGO:0327299.7IL1B, TLR4, TNF
25positive regulation of tumor necrosis factor productionGO:0327609.7NOD2, NOD1, TLR4
26activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.7NLRP3, TNF, NOD1
27toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.6TLR4, NOD1, NOD2
28toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.6TLR4, NOD2, NOD1
29toll-like receptor 2 signaling pathwayGO:0341349.6NOD1, TLR4, NOD2
30TRIF-dependent toll-like receptor signaling pathwayGO:0356669.5NOD1, TLR4, NOD2
31MyD88-dependent toll-like receptor signaling pathwayGO:0027559.5TLR4, NOD2, NOD1
32negative regulation of interferon-gamma productionGO:0326899.5NOD2, IL10, TLR4
33negative regulation of tumor necrosis factor productionGO:0327209.5NOD2, IL10, TLR4
34MyD88-independent toll-like receptor signaling pathwayGO:0027569.5NOD2, NOD1, TLR4
35toll-like receptor 3 signaling pathwayGO:0341389.5NOD1, TLR4, NOD2
36negative regulation of interleukin-6 productionGO:0327159.4TLR4, TNF, IL10
37positive regulation of ERK1 and ERK2 cascadeGO:0703749.4TNF, NOD1, NOD2, TLR4
38positive regulation of MHC class II biosynthetic processGO:0453489.3IL10, TLR4
39positive regulation of interleukin-8 biosynthetic processGO:0454169.3TLR4, TNF
40cellular response to lipopolysaccharideGO:0712229.3TLR4, IL10, NLRP3
41positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.2TNF, IL10, IL1B
42positive regulation of interleukin-6 productionGO:0327559.1NOD1, IL1B, TNF, TLR4, NOD2
43positive regulation of JNK cascadeGO:0463309.1TNF, NOD2, NOD1, IL1B, TLR4
44activation of MAPK activityGO:0001879.1NOD1, IL1B, TNF, TLR4, NOD2
45positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.1TLR4, NOD1, NOD2, IL1B, TNF
46defense response to bacteriumGO:0427429.1NOD2, NOD1, IL10, TLR4
47positive regulation of NF-kappaB transcription factor activityGO:0510928.8NLRP3, NOD1, NOD2, IL1B, TNF, TLR4
48innate immune responseGO:0450878.8NLRP3, TLR4, NOD2, NOD1, MEFV, CSF1
49positive regulation of transcription from RNA polymerase II promoterGO:0459448.6NOD2, IL10, IL1B, TLR4, TNF
50inflammatory responseGO:0069548.4CSF1, IL1B, IL10, MEFV, NLRP3, TNF

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

idNameGO IDScoreTop Affiliating Genes
1peptidoglycan bindingGO:0428349.5NOD2, NOD1, NLRP3
2CARD domain bindingGO:0507009.5NOD1, NOD2
3ATP bindingGO:0055248.8NOD2, NOD1, NLRP3, MVK, SPG7
4cytokine activityGO:0051258.8CSF1, IL1B, IL10, TNF

Products for genes affiliated with Blau Syndrome

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Sources for Blau Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet