ACUG
MCID: BLS001
MIFTS: 73

Blau Syndrome (ACUG) malady

Genetic diseases, Rare diseases, Eye diseases, Respiratory diseases, Bone diseases, Skin diseases, Blood diseases, Neuronal diseases categories
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Summaries for Blau Syndrome

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

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

Disease Ontology:8 An autosomal dominant disease characterized by familial granulomatous arthritis, characterized by uveitis and characterized by 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:65 Blau syndrome is characterized by familial granulomatous arthritis, uveitis, and skin granulomas,... more...

Descriptions from OMIM:46 186580,609464

Aliases & Classifications for Blau Syndrome

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Blau Syndrome, Aliases & Descriptions:

Name: 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
Pediatric Granulomatous Arthritis 21 62
Sarcoidosis, Early-Onset 46 62
Early-Onset Sarcoidosis 21 48
Jabs Syndrome 8 42
 
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 62
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 42
Granulomatosis, Familial Juvenile Systemic 42
Familial Juvenile Systemic Granulomatosis 21
Granulomatosis, Familial, Blau Type 42
Familial Granulomatosis, Blau Type 21
Acug 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050678
NCIt39 C116794

Related Diseases for Blau Syndrome

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.2TNF, IL1B
2sarcoidosis31.0IL1B, TNF, NOD2, IL1RAPL2
3uveitis30.7TNF, IL10, NOD2
4vasculitis30.4IL1RAPL2, TNF, MEFV
5juvenile rheumatoid arthritis30.2TNF, IL1RAPL2
6rheumatoid arthritis28.9NOD2, TLR4, TNF, IL10, MEFV, IL1RAPL2
7palindromic rheumatism10.6MEFV
8cervical adenitis10.5MVK
9degenerative disc disease10.5IL1B
10erysipelas10.5MEFV
11hyper-igd syndrome10.5MVK
12spondylitis10.5NOD2
13malignant histiocytosis10.4CSF1
14relapsing fever10.4MVK, MEFV
15synovitis10.4IL1B, TNF
16filariasis10.4TLR4
17cooper-jabs syndrome10.4
18pleurisy10.3MEFV, IL1B
19psoriatic arthritis10.3TNF
20aids dementia complex10.3TNF, IL1B
21familial cold autoinflammatory syndrome10.3IL1B, MEFV, NLRP3
22periodic fever, familial, autosomal dominant10.3MVK, MEFV, TNF
23interstitial lung disease10.3IL1B, TNF
24gout10.3IL1B, NLRP3
25familial mediterranean fever10.3TNF, NLRP3, MEFV
26pouchitis10.3NOD2, TLR4
27craniolenticulosutural dysplasia10.3
28toxic shock syndrome10.3TNF, IL1B
29iritis10.3
30granulomatous dermatitis10.3
31dermatitis10.3
32retinitis10.3
33mastitis10.3IL1B, TLR4
34peritonitis10.2MEFV, TNF, IL1B
35pyelonephritis10.2DPEP1, TLR4
36adult-onset still's disease10.2CSF1, IL1RAPL2
37choroiditis10.2
38multifocal choroiditis10.2
39pyoderma gangrenosum10.2NOD2, NLRP3, MVK, MEFV
40ulcerative colitis10.2NOD2, TNF, NOD1
41crohn's disease10.2NOD1, NOD2, TNF
42respiratory failure10.2IL1B, TNF
43malaria10.2TNF, IL10
44visceral leishmaniasis10.2DPEP1, IL10
45periodontitis10.2IL1B, TLR4
46aspergillosis10.1CSF1, TLR4
47alcoholic hepatitis10.1IL10, TNF
48aortitis10.1
49sarcoidosis 110.1
50leishmaniasis10.1IL10

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:

186580,609464

Symptoms:

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

HPO human phenotypes related to Blau Syndrome:

(show all 58)
id Description Frequency HPO Source Accession
1 skin rash hallmark (90%) HP:0000988
2 hypermelanotic macule hallmark (90%) HP:0001034
3 arthritis hallmark (90%) HP:0001369
4 limitation of joint mobility hallmark (90%) HP:0001376
5 joint swelling hallmark (90%) HP:0001386
6 arthralgia hallmark (90%) HP:0002829
7 inflammatory abnormality of the eye hallmark (90%) HP:0100533
8 glaucoma typical (50%) HP:0000501
9 cataract typical (50%) HP:0000518
10 photophobia typical (50%) HP:0000613
11 dry skin typical (50%) HP:0000958
12 abnormality of temperature regulation typical (50%) HP:0004370
13 camptodactyly of finger typical (50%) HP:0100490
14 renal insufficiency occasional (7.5%) HP:0000083
15 nephropathy occasional (7.5%) HP:0000112
16 xerostomia occasional (7.5%) HP:0000217
17 retinopathy occasional (7.5%) HP:0000488
18 visual impairment occasional (7.5%) HP:0000505
19 optic atrophy occasional (7.5%) HP:0000648
20 hypertension occasional (7.5%) HP:0000822
21 choroideremia occasional (7.5%) HP:0001139
22 abnormality of the liver occasional (7.5%) HP:0001392
23 abnormality of the pericardium occasional (7.5%) HP:0001697
24 splenomegaly occasional (7.5%) HP:0001744
25 anemia occasional (7.5%) HP:0001903
26 subcutaneous hemorrhage occasional (7.5%) HP:0001933
27 morphological abnormality of the central nervous system occasional (7.5%) HP:0002011
28 pulmonary hypertension occasional (7.5%) HP:0002092
29 respiratory insufficiency occasional (7.5%) HP:0002093
30 vasculitis occasional (7.5%) HP:0002633
31 lymphadenopathy occasional (7.5%) HP:0002716
32 dilatation of the ascending aorta occasional (7.5%) HP:0005111
33 ichthyosis occasional (7.5%) HP:0008064
34 renal neoplasm occasional (7.5%) HP:0009726
35 abnormality of the salivary glands occasional (7.5%) HP:0010286
36 facial palsy occasional (7.5%) HP:0010628
37 retrobulbar optic neuritis occasional (7.5%) HP:0100654
38 skin ulcer occasional (7.5%) HP:0200042
39 autosomal dominant inheritance HP:0000006
40 glaucoma HP:0000501
41 cataract HP:0000518
42 uveitis HP:0000554
43 band keratopathy HP:0000585
44 abnormality of the ear HP:0000598
45 eczema HP:0000964
46 iritis HP:0001101
47 abnormality of the cranial nerves HP:0001291
48 arthritis HP:0001369
49 joint swelling HP:0001386
50 flexion contracture of toe HP:0005830
51 intermittent generalized erythematous papular rash HP:0007432
52 nongranulomatous uveitis HP:0007813
53 cystoid macular edema HP:0011505
54 camptodactyly of finger HP:0100490
55 synovitis HP:0100769
56 skin ulcer HP:0200042
57 autosomal dominant inheritance HP:0000006
58 non-caseating epithelioid cell granulomatosis HP:0012220

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:

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

Animal Models for Blau Syndrome or affiliated genes

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Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
2
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
3
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
4
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
5
A case of blau syndrome. (24876985)
2014
6
Blau syndrome and latent tubercular infection: an unresolved partnership. (24646037)
2014
7
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
8
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
9
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
10
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
11
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. (23699845)
2013
12
The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. (23678609)
2013
13
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
14
Blau syndrome, clinical and genetic aspects. (22884558)
2012
15
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. (22509093)
2012
16
Immunohistochemical evidence of specific iris involvement in Blau syndrome. (23215732)
2012
17
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
18
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
19
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
20
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
21
Blau syndrome revisited. (21788900)
2011
22
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
23
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
24
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
25
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
26
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
27
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. (19180500)
2009
28
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
29
Two pediatric cases of Blau syndrome. (20040255)
2009
30
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. (18718560)
2009
31
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
32
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
33
Leg ulcers: a new symptom of Blau syndrome? (18955195)
2008
34
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? (18061972)
2007
35
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
36
Blau syndrome associated with a CARD15/NOD2 mutation. (17157607)
2006
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:

64
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:

6
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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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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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
29.9TNF, NOD2
39.9IL1B, TNF
4
Show member pathways
Serotonin Transporter Activity37
9.9IL1B, TNF
5
Show member pathways
9.5IL10, TNF
6
Show member pathways
IL-1 Signaling Pathway37
IL1-mediated signaling events37
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 response60
9.3IL1B, TNF, TLR4
149.3TLR4, TNF, IL1B
15
Show member pathways
9.3TLR4, TNF, IL1B
16
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
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 pathway37
TCR Signaling Pathway37
9.2IL1B, IL10, TNF
239.2IL1B, IL10, TNF
24
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
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 pathway37
Regulation of toll-like receptor signaling pathway37
8.7TLR4, TNF, IL10, IL1B
358.7TLR4, TNF, IL10, IL1B
36
Show member pathways
IL27-mediated signaling events37
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 pathways60
Immune response IL 1 signaling pathway60
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/GeneDecks:

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1fk 565449.9NOD1, NOD2
2diaminopimelic acid449.7TLR4, NOD1, NOD2
3toxin-1449.6TNF, IL10, IL1B
4mip 1alpha449.5IL1B, IL10, TNF
55 aminosalicylic acid449.5IL10, TNF, IL1B
6leflunomide44 50 1111.5IL1B, IL1RAPL2, TNF
7il-12449.5TNF, IL10, IL1B
8groalpha449.3TNF, IL1B, IL10
9sulfasalazine28 44 50 1112.3TNF, IL1RAPL2, IL1B, CSF1
10gm-csf44 2810.3TNF, IL10, IL1B, CSF1
11leukotriene b444 61 2411.3CSF1, TNF, IL1B, IL1RAPL2
12anakinra44 1110.2NLRP3, TNF, MVK, IL1RAPL2, IL1B
13adalimumab44 50 1111.2TNF, IL1RAPL2, IL10
14budesonide44 50 1111.2TNF, CSF1, IL1B
15polymyxin b449.1TLR4, IL1B, IL10, TNF
16lipoteichoic acid449.1IL1B, IL10, TNF, TLR4
17thalidomide44 50 61 1112.1TNF, IL10, IL1B, SPG7
18pentoxifylline44 1110.1TNF, IL1RAPL2, IL10, IL1B
19ccl344 2810.1TLR4, TNF, IL10, IL1B
20imiquimod44 61 28 1111.9IL10, IL1RAPL2, TNF, TLR4
21c2ceramide448.9TLR4, IL1RAPL2, TNF, IL1B, CSF1
22fmlp448.8TNF, IL1RAPL2, IL1B, CSF1, TLR4
23prednisolone44 28 1110.8TNF, CSF1, IL1RAPL2, IL10, NOD2
24polyinosinic-polycytidylic acid448.8IL1B, CSF1, IL10, TNF, TLR4
25etanercept44 50 1110.8TNF, CSF1, IL1B, IL10, IL1RAPL2
26ivig448.8TNF, IL10, IL1RAPL2, CSF1, IL1B
27neopterin448.8IL1B, IL1RAPL2, TNF, CSF1, IL10
28calcitriol44 61 24 1111.7TNF, IL10, IL1B, CSF1, TLR4
29actinomycin d448.7IL1RAPL2, TNF, CSF1, TLR4, IL1B
30muramyl dipeptide44 289.6NOD1, TLR4, IL1B, DPEP1, NOD2
31ly294002448.6TNF, TLR4, IL10, CSF1, IL1B
32simvastatin44 50 61 28 24 1113.6TNF, MVK, IL1RAPL2, TLR4, IL10
33indomethacin44 28 61 1111.5CSF1, TNF, DPEP1, IL1RAPL2, IL1B
34superoxide44 249.4TLR4, TNF, IL1RAPL2, IL1B, CSF1
35infliximab44 50 1110.4IL10, IL1RAPL2, NOD2, TNF, TLR4, IL1B
36mannose448.4TLR4, IL1RAPL2, CSF1, NOD2, DPEP1
37thymidine44 249.3CSF1, IL10, IL1RAPL2, TNF, IL1B
38methotrexate50 44 1110.3NLRP3, TLR4, TNF, IL1B, IL10, IL1RAPL2
39tgf beta1448.2CSF1, IL10, IL1B, IL1RAPL2, TNF, TLR4
40ionomycin448.2CSF1, TNF, DPEP1, IL10
41rantes448.2CSF1, IL10, IL1RAPL2, TNF, TLR4, IL1B
42histamine44 28 2410.2CSF1, IL10, IL1RAPL2, IL1B, TLR4, TNF
43cycloheximide448.2TLR4, CSF1, IL1B, IL10, IL1RAPL2, TNF
44dexamethasone44 50 28 1111.1IL10, IL1RAPL2, TNF, TLR4, IL1B, CSF1
45il 10448.0IL1B, IL10, CSF1, NOD2, TNF, TLR4
46vegf448.0TLR4, IL1B, IL10, IL1RAPL2, TNF, CSF1
47nitric oxide44 24 119.5NOD2, IL1RAPL2, IL10, IL1B, DPEP1, TNF
48pge2447.4IL1B, DPEP1, IL1RAPL2, IL10, CSF1, TNF
49peptidoglycan44 288.3IL10, DPEP1, IL1B, TLR4, TNF, NOD1
50endotoxin447.3MEFV, IL1B, NOD2, TLR4, TNF, DPEP1

GO Terms for genes affiliated with Blau Syndrome

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Cellular components related to Blau Syndrome according to GeneCards/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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet