ACUG
MCID: BLS001
MIFTS: 73

Blau Syndrome (ACUG) malady

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

Summaries for Blau Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to sarcoidosis and arthritis, and has symptoms including aortic root dilatation/dilation/aneurysm, chronic arterial hypertension and interstitial nephropathy. 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, eye 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:63 Blau syndrome is characterized by familial granulomatous arthritis, uveitis, and skin granulomas,... more...

Description from OMIM:46 186580,609464

Aliases & Classifications for Blau Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS
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Classifications:



Characteristics (Orphanet epidemiological data):

48
blau syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

blau syndrome 8 9 42 20 22 21 46 10 44 48
arthrocutaneouveal granulomatosis 8 42 21
granulomatous inflammatory arthritis, dermatitis, and uveitis, familial 42 21
sarcoidosis, early-onset 46 60
synovitis, granulomatous, with uveitis and cranial neuropathies 60
granulomatosis, familial juvenile systemic 42
familial juvenile systemic granulomatosis 21
granulomatosis, familial, blau type 42
familial granulomatosis, blau type 21
pediatric granulomatous arthritis 21
early-onset sarcoidosis 21
jabs syndrome 8
acug 42


External Ids:

Disease Ontology8 DOID:0050678
OMIM46 186580

Related Diseases for Blau Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Blau Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis30.8TNF, IL1RAPL2, IL1B, NOD2
2arthritis30.6NLRP3, TLR4, MVK, CSF1, TNF, PSTPIP1
3uveitis30.5NOD2, IL10, TNF
4dermatitis30.3NOD2, NLRP3
5rheumatoid arthritis30.0TLR4, CSF1, TNF, MEFV, IL10, IL1RAPL2
6vasculitis30.0IL1RAPL2, MEFV, TNF
7cooper-jabs syndrome10.3
8craniolenticulosutural dysplasia10.2
9iritis10.2
10granulomatous dermatitis10.2
11choroiditis10.2
12cardiac sarcoidosis10.1
13aortitis10.1
14juvenile rheumatoid arthritis10.1
15sarcoidosis 110.1
16renal clear cell carcinoma10.0
17retinal vasculitis10.0
18neuropathy10.0
19renal cell carcinoma10.0
20retinitis10.0
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
49erysipelas10.0MEFV
50hepatitis b10.0TLR4

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



Diseases related to blau syndrome

Clinical Features for Blau Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

186580,609464

Clinical synopsis from OMIM:

186580

Symptoms:

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

Drugs & Therapeutics for Blau Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Blau Syndrome:

32
Skin, Eye, Liver, Bone, Salivary gland, Lung, Kidney

Animal Models for Blau Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Blau Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.0CSF1, MEFV, IL1B, NOD2, SPG7
2MP:00053898.6NLRP3, TLR4, CSF1, MEFV, ATN1
3MP:00053708.2NLRP3, TLR4, CSF1, TNF, MEFV, IL10
4MP:00053977.9TLR4, CSF1, TNF, MEFV, IL10, NOD2
5MP:00053787.2NLRP3, TLR4, CSF1, TNF, MEFV, ATN1
6MP:00107687.0NLRP3, TLR4, CSF1, TNF, MEFV, ATN1
7MP:00053877.0NOD1, NLRP3, TLR4, CSF1, TNF, PSTPIP1

Publications for Blau Syndrome

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50PubMed
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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
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
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
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
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
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
12
Blau syndrome revisited. (21788900)
2011
13
Blau syndrome. (20947513)
2011
14
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
15
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
16
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
17
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. (20199415)
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
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? (18061972)
2007
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
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. (17393391)
2007
28
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. (17096091)
2007
29
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
30
Blau syndrome associated with a CARD15/NOD2 mutation. (17157607)
2006
31
Blau syndrome presenting with ichthyosis. (15670175)
2005
32
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
33
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. (15459013)
2005
34
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. (15693102)
2005
35
A new CARD15 mutation in Blau syndrome. (15812565)
2005
36
Blau syndrome. (15051234)
2004
37
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. (15554080)
2004
38
Bupropion for Blau syndrome. (14962643)
2004
39
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. (14522785)
2003
40
Blau syndrome: a new kindred. (12894082)
2003
41
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. (12186634)
2002
42
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. (12051637)
2002
43
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
44
CARD15 mutations in Blau syndrome. (11528384)
2001
45
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000
46
The Blau syndrome gene is not a major risk factor for sarcoidosis. (10560124)
1999
47
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. (9738733)
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

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62UniProtKB/Swiss-Prot
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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.Ala612ThrVAR_012686
5NOD2p.Asp382GluVAR_023822
6NOD2p.Glu383LysVAR_023823
7NOD2p.His496LeuVAR_023824
8NOD2p.Thr605AsnVAR_065228

Expression for genes affiliated with Blau Syndrome

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1BioGPS, 15Gene 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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29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 52R&D Systems
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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

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44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Blau Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1pentoxifylline44 1111.3IL1RAPL2
2cycloheximide4410.3IL1RAPL2
3fk 5654410.1NOD1, NOD2
4gm-csf44 2811.1IL10, TNF
5fmlp4410.0CSF1, IL1RAPL2
6endotoxin449.8MEFV, DPEP1
7prednisolone44 28 1111.8NOD2, IL1RAPL2, CSF1
8toxin-1449.7IL1B, IL10, TNF
9mip 1alpha449.7TNF, IL10, IL1B
10diaminopimelic acid449.7TLR4, NOD1, NOD2
11il-12449.6IL1B, IL10, TNF
125 aminosalicylic acid449.6IL1B, IL10, TNF
13budesonide44 49 1111.6TNF, CSF1, IL1B
14groalpha449.5IL10, TNF, IL1B
15leflunomide49 44 1111.5IL1RAPL2, TNF, IL1B
16fluticasone propionate44 49 59 1112.4TNF, CSF1, IL1B
17sulfasalazine44 28 49 1112.4IL1RAPL2, TNF, CSF1, IL1B
18adalimumab44 49 1111.4IL1RAPL2, IL10, TNF
19leukotriene b444 59 2411.3CSF1, IL1B, IL1RAPL2, TNF
20anakinra44 1110.3IL1RAPL2, NLRP3, MVK, TNF, IL1B
21thalidomide44 49 59 1112.2SPG7, IL1B, TNF, IL10
22polymyxin b449.2IL1B, TNF, TLR4, IL10
23lipoteichoic acid449.1IL1B, IL10, TLR4, TNF
24ccl344 2810.1TLR4, TNF, IL10, IL1B
25indomethacin44 59 28 1112.1DPEP1, IL1RAPL2, CSF1
26muramyl tripeptide phosphatidylethanolamine449.1IL1B, DPEP1
27etanercept44 49 1110.9TNF, CSF1, IL1B, IL10, IL1RAPL2
28ivig448.9TNF, IL10, IL1RAPL2, CSF1, IL1B
29imiquimod44 28 59 1111.9TNF, IL10, TLR4, IL1RAPL2
30neopterin448.9IL10, IL1RAPL2, IL1B, CSF1, TNF
31methotrexate44 49 1110.9IL10, IL1B, IL1RAPL2, TNF, NLRP3
32polyinosinic-polycytidylic acid448.8IL10, IL1B, TNF, CSF1, TLR4
33c2ceramide448.8TLR4, CSF1, IL1RAPL2, IL1B, TNF
34rantes448.8CSF1, IL1RAPL2, TNF, IL1B, TLR4
35calcitriol44 59 11 2411.8IL1B, IL10, TNF, CSF1, TLR4
36simvastatin44 49 59 28 11 2413.6IL10, TNF, MVK, IL1RAPL2, TLR4
37ly294002448.6IL1B, TNF, TLR4, CSF1, IL10
38actinomycin d448.6IL1B, IL1RAPL2, TNF, CSF1, TLR4
39muramyl dipeptide44 289.6TLR4, IL1B, NOD2, NOD1, DPEP1
40ionomycin448.5CSF1, TNF, DPEP1, IL10
41infliximab44 49 1110.4IL1RAPL2, IL10, TNF, IL1B, NOD2, TLR4
42tgf beta1448.3CSF1, IL1RAPL2, TNF, IL10, TLR4, IL1B
43mannose448.3CSF1, DPEP1, IL1RAPL2, NOD2, TLR4
44histamine44 28 2410.3IL1B, IL1RAPL2, IL10, TNF, CSF1, TLR4
45il 10448.1NOD2, IL1RAPL2, IL10, TNF, CSF1, TLR4
46dexamethasone44 49 28 1111.1IL1RAPL2, TNF, IL10, CSF1, IL1B, TLR4
47vegf447.9TLR4, IL1RAPL2, IL1B, CSF1, TNF, IL10
48nitric oxide44 11 249.5TLR4, NOD2, IL1RAPL2, IL10, DPEP1, TNF
49pge2447.5TLR4, CSF1, TNF, DPEP1, IL10, IL1RAPL2
50peptidoglycan44 288.5TLR4, NOD1, NOD2, IL1B, IL10, ATN1

GO Terms for genes affiliated with Blau Syndrome

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16Gene Ontology
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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 calcidiol 1-monooxygenase activityGO:06055910.3IL1B, TNF
3positive regulation of humoral immune response mediated by circulating immunoglobulinGO:00292510.3TNF, NOD2
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, NLRP3, MVK
8detection of biotic stimulusGO:00959510.0NLRP3, NOD2, NOD1
9positive regulation of chemokine biosynthetic processGO:04508010.0TNF, IL1B
10receptor biosynthetic processGO:03280010.0TNF, IL10
11negative regulation of cytokine secretion involved in immune responseGO:00274010.0TNF, IL10
12protein oligomerizationGO:05125910.0NOD1, NLRP3, NOD2
13defense response to Gram-positive bacteriumGO:05083010.0NOD1, TNF, NOD2
14defense responseGO:0069529.9NOD1, NLRP3, NOD2
15JNK cascadeGO:0072549.9NOD2, NOD1, TNF
16positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0432809.9NLRP3, NOD1, TNF
17negative regulation of interleukin-12 productionGO:0326959.9MEFV, IL10, NOD2
18negative regulation of growth of symbiont in hostGO:0441309.9TNF, IL10, NOD2
19positive regulation of interleukin-8 biosynthetic processGO:0454169.7TLR4, TNF
20positive regulation of NF-kappaB import into nucleusGO:0423469.7IL1B, TNF, TLR4
21lipopolysaccharide-mediated signaling pathwayGO:0316639.7IL1B, TNF, TLR4
22positive regulation of nitric oxide biosynthetic processGO:0454299.7TLR4, IL1B, TNF
23positive regulation of interferon-gamma productionGO:0327299.7TLR4, TNF, IL1B
24positive regulation of tumor necrosis factor productionGO:0327609.6NOD1, NOD2, TLR4
25positive regulation of nitric-oxide synthase biosynthetic processGO:0517709.6TLR4, NOD2
26positive regulation of MHC class II biosynthetic processGO:0453489.6TLR4, IL10
27positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.6IL1B, IL10, TNF
28regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431229.6IL1B, TNF
29toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.5TLR4, NOD2, NOD1
30negative regulation of interferon-gamma productionGO:0326899.5IL10, NOD2, TLR4
31negative regulation of tumor necrosis factor productionGO:0327209.5TLR4, NOD2, IL10
32toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.5NOD1, NOD2, TLR4
33toll-like receptor 2 signaling pathwayGO:0341349.5TLR4, NOD1, NOD2
34negative regulation of interleukin-6 productionGO:0327159.5TLR4, IL10, TNF
35TRIF-dependent toll-like receptor signaling pathwayGO:0356669.5NOD1, NOD2, TLR4
36activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.4NLRP3, NOD1, TNF
37nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.4NOD2, NOD1, NLRP3, PSTPIP1, MEFV
38cellular response to lipopolysaccharideGO:0712229.4TLR4, NLRP3, IL10
39positive regulation of ERK1 and ERK2 cascadeGO:0703749.4TNF, NOD2, TLR4, NOD1
40MyD88-independent toll-like receptor signaling pathwayGO:0027569.4NOD1, NOD2, TLR4
41toll-like receptor 3 signaling pathwayGO:0341389.3NOD1, NOD2, TLR4
42MyD88-dependent toll-like receptor signaling pathwayGO:0027559.3NOD2, NOD1, TLR4
43defense response to bacteriumGO:0427429.1NOD2, NOD1, TLR4, IL10
44positive regulation of interleukin-6 productionGO:0327559.1NOD2, TLR4, TNF, IL1B, NOD1
45positive regulation of JNK cascadeGO:0463309.1NOD2, NOD1, IL1B, TNF, TLR4
46activation of MAPK activityGO:0001879.1TNF, IL1B, NOD1, TLR4, NOD2
47positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431239.1IL1B, NOD1, TNF, TLR4, NOD2
48positive regulation of NF-kappaB transcription factor activityGO:0510928.8TLR4, IL1B, NLRP3, NOD2, NOD1, TNF
49inflammatory responseGO:0069548.6IL1B, NLRP3, CSF1, TNF, MEFV, IL10
50innate immune responseGO:0450878.4NOD1, NLRP3, TLR4, MEFV, PSTPIP1, 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

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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet