MCID: BLS001
MIFTS: 57

Blau Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases categories

Aliases & Classifications for Blau Syndrome

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Aliases & Descriptions for Blau Syndrome:

Name: Blau Syndrome 49 10 11 45 22 23 47 12 24 67
Arthrocutaneouveal Granulomatosis 10 45 23 67
Jabs Syndrome 10 45 67
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 45 23
Familial Juvenile Systemic Granulomatosis 23 67
Acug 45 67
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 67
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 65
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 45
 
Granulomatosis, Familial Juvenile Systemic 45
Granulomatosis, Familial, Blau Type 45
Familial Granulomatosis, Blau Type 23
Pediatric Granulomatous Arthritis 23
Familial Granulomatosis Blau Type 67
Sarcoidosis, Early-Onset 65
Early-Onset Sarcoidosis 23
Blaus 67


Classifications:



External Ids:

OMIM49 186580
Disease Ontology10 DOID:0050678
NCIt42 C116794
MedGen34 C1861303

Summaries for Blau Syndrome

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NIH Rare Diseases:45 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 dermatitis and sarcoidosis 1, and has symptoms including skin rash, hypermelanotic macule and arthritis. An important gene associated with Blau Syndrome is NOD2 (Nucleotide-Binding Oligomerization Domain Containing 2), and among its related pathways are Canonical NF-kappaB pathway and LDL Oxidation in Atherogenesis. Affiliated tissues include skin, eye and liver, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Disease Ontology:10 An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused by nod2/card15 mutations.

Genetics Home Reference:23 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.

UniProtKB/Swiss-Prot:67 Blau syndrome: A rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.

Wikipedia:68 Blau syndrome is characterized by familial granulomatous arthritis, uveitis, and skin granulomas,... more...

Description from OMIM:49 186580

Related Diseases for Blau Syndrome

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

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis30.7IL1B, TNF
2sarcoidosis 130.4IL1B, NOD2, TNF
3rheumatoid arthritis30.0IL1B, TLR2, TLR4, TNF
4sarcoidosis, early-onset28.6CELIAC2, IL1B, MEFV, MVK, NLRP3, NOD1
5arthritis10.5
6uveitis10.5
7craniolenticulosutural dysplasia10.4
8cooper-jabs syndrome10.4
9cellular myxoid liposarcoma10.3NOD2, TNF
10intracranial primitive neuroectodermal tumor10.3NOD2, TNF
11early-onset non-syndromic cataract10.3NOD2, TLR4
12fascioloidiasis10.3TLR4, TNF
13hair defect with photosensitivity and mental retardation10.3TLR2, TNF
14spondylocamptodactyly10.3TLR4, TNF
15meckel's diverticulitis10.3IL1B, TNF
16acute conjunctivitis10.3TLR2, TLR4
17iritis10.3
18granulomatous dermatitis10.3
19retinitis10.3
20intermediate malignant teratoma10.3NOD2, TLR2
21tuberculous uveitis10.3TLR2, TNF
22corneal granular dystrophy10.2TLR2, TLR4
23noonan syndrome 210.2TLR2, TNF
24stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features10.2IL1B, TNF
25peyronie's disease10.2IL1B, TNF
26plantar nerve lesion10.2IL1B, TNF
27capillary lymphangioma10.2NOD2, TNF
28periocular meningioma10.2TLR2, TLR4
29larynx sarcoma10.2IL1B, TNF
30lymphoepithelioma-like carcinoma10.2IL1B, TNF
31second-degree atrioventricular block10.2TLR2, TNF
32supraglottis cancer10.2TLR2, TLR4
33hidradenoma10.2NOD2, TNF
34wissler's syndrome10.2IL1B, TNF
35calpainopathy10.2IL1B, TNF
36pyrimidine metabolic disorder10.2NOD2, TNF
37prion disease10.2TLR2, TNF
38choroiditis10.2
39multifocal choroiditis10.2
40hyper-reninism10.2TLR2, TLR4
41intermediate cell type choroid melanoma10.2IL1B, TNF
42lower lip cancer10.2TLR2, TNF
43fallopian tube cystadenofibroma10.2IL1B, TNF
44radiation cystitis10.2TLR2, TLR4
45hepatic angiomyolipoma10.2IL1B, TNF
46congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay10.2IL1B, TNF
47stalker chitayat syndrome10.2IL1B, TNF
48meier-gorlin syndrome 310.2CELIAC2, NOD2
49lacrimal gland adenocarcinoma10.2IL1B, TNF
50dentine erosion10.2IL1B, 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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Symptoms by clinical synopsis from OMIM:

186580

Clinical features from OMIM:

186580

HPO human phenotypes related to Blau Syndrome:

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

Drugs & Therapeutics for Blau Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 24 NOD2

Anatomical Context for Blau Syndrome

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MalaCards organs/tissues related to Blau Syndrome:

33
Skin, Eye, Liver, Salivary gland

Animal Models for Blau Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Blau Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3NLRP3, NOD2, TLR2, TLR4, TNF
2MP:00053708.1MEFV, NLRP3, TLR2, TLR4, TNF
3MP:00053907.5IL1B, MEFV, NLRP3, NOD2, TLR2, TLR4
4MP:00053876.7IL1B, MEFV, NLRP3, NOD1, NOD2, TLR2
5MP:00053976.6IL1B, MEFV, NLRP3, NOD1, NOD2, TLR2

Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Somatic NOD2 mosaicism in Blau syndrome. (25724124)
2015
2
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. (26509073)
2015
3
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. (25429073)
2015
4
A new mutation in blau syndrome. (25692065)
2015
5
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
6
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
7
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
8
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
9
A case of blau syndrome. (24876985)
2014
10
Blau syndrome and latent tubercular infection: an unresolved partnership. (24646037)
2014
11
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
12
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
13
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
14
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
15
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. (23699845)
2013
16
The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. (23678609)
2013
17
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
18
Blau syndrome, clinical and genetic aspects. (22884558)
2012
19
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
20
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
21
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
22
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
23
Blau syndrome revisited. (21788900)
2011
24
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
25
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
26
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
27
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
28
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. (19180500)
2009
29
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
30
Two pediatric cases of Blau syndrome. (20040255)
2009
31
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. (18718560)
2009
32
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
33
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
34
Leg ulcers: a new symptom of Blau syndrome? (18955195)
2008
35
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? (18061972)
2007
36
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
37
Blau syndrome presenting with ichthyosis. (15670175)
2005
38
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
39
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. (15459013)
2005
40
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. (15693102)
2005
41
A new CARD15 mutation in Blau syndrome. (15812565)
2005
42
Blau syndrome. (15051234)
2004
43
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. (15554080)
2004
44
Bupropion for Blau syndrome. (14962643)
2004
45
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. (14522785)
2003
46
Blau syndrome: a new kindred. (12894082)
2003
47
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. (12186634)
2002
48
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. (12051637)
2002
49
CARD15 mutations in Blau syndrome. (11528384)
2001
50
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000

Variations for Blau Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Blau Syndrome:

67
id Symbol AA change Variation ID SNP ID
1NOD2p.Arg334GlnVAR_012676rs104895461
2NOD2p.Arg334TrpVAR_012677rs104895462
3NOD2p.Leu469PheVAR_012685rs104895460
4NOD2p.Glu383LysVAR_023823rs104895477
5NOD2p.Thr605AsnVAR_065228
6NOD2p.Pro507SerVAR_073180

Clinvar genetic disease variations for Blau Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOD2NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln)single nucleotide variantPathogenicrs104895461GRCh37Chr 16, 50744823: 50744823
2NOD2NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe)single nucleotide variantPathogenicrs104895460GRCh37Chr 16, 50745227: 50745227
3NOD2NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp)single nucleotide variantPathogenicrs104895462GRCh37Chr 16, 50744822: 50744822
4NOD2NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs104895477GRCh37Chr 16, 50744969: 50744969

Expression for genes affiliated with Blau Syndrome

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Search GEO for disease gene expression data for Blau Syndrome.

Pathways for genes affiliated with Blau Syndrome

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Pathways related to Blau Syndrome according to GeneCards Suite gene sharing:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NOD2, TNF
29.8IL1B, TNF
39.8IL1B, TNF
49.8IL1B, TNF
59.8IL1B, TNF
69.5IL1B, NOD2, TNF
79.3IL1B, NLRP3, TNF
8
Show member pathways
9.3IL1B, NOD1, NOD2
99.2IL1B, TLR4, TNF
109.2IL1B, TLR4, TNF
119.2IL1B, TLR4, TNF
12
Apoptosis (KEGG)
Show member pathways
9.2IL1B, TLR4, TNF
13
Show member pathways
9.2IL1B, TLR4, TNF
148.8TLR2, TLR4, TNF
158.8TLR2, TLR4, TNF
16
Show member pathways
8.8IL1B, TLR2, TLR4
17
Show member pathways
8.8IL1B, TLR2, TLR4
18
Show member pathways
8.4IL1B, TLR2, TLR4, TNF
19
Show member pathways
8.4IL1B, TLR2, TLR4, TNF
20
Show member pathways
8.4IL1B, TLR2, TLR4, TNF
218.4IL1B, TLR2, TLR4, TNF
22
Show member pathways
8.4IL1B, TLR2, TLR4, TNF
238.4IL1B, TLR2, TLR4, TNF
248.4IL1B, TLR2, TLR4, TNF
258.4IL1B, TLR2, TLR4, TNF
268.4IL1B, TLR2, TLR4, TNF
27
Show member pathways
8.4IL1B, TLR2, TLR4, TNF
28
Show member pathways
8.4IL1B, TLR2, TLR4, TNF
298.3IL1B, NLRP3, NOD1, TLR4, TNF
308.1IL1B, NOD2, TLR2, TLR4, TNF
31
Show member pathways
8.1IL1B, NOD2, TLR2, TLR4, TNF
32
Show member pathways
8.1IL1B, MEFV, NLRP3, NOD1, NOD2, TNF
33
Show member pathways
8.0IL1B, NLRP3, TLR2, TLR4, TNF
347.9IL1B, NOD1, TLR2, TLR4, TNF
35
Show member pathways
7.2IL1B, NLRP3, NOD1, NOD2, TLR2, TLR4
36
Show member pathways
6.7IL1B, MEFV, NLRP3, NOD1, NOD2, TLR2

GO Terms for genes affiliated with Blau Syndrome

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Cellular components related to Blau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:00312269.4TLR2, TLR4
2external side of plasma membraneGO:00098979.0TLR2, TLR4, TNF
3cell surfaceGO:00099868.5NOD2, TLR2, TLR4, TNF

Biological processes related to Blau Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 86)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of humoral immune response mediated by circulating immunoglobulinGO:000292510.5NOD2, TNF
2sequestering of triglycerideGO:003073010.5IL1B, TNF
3positive regulation of calcidiol 1-monooxygenase activityGO:006055910.5IL1B, TNF
4chronic inflammatory response to antigenic stimulusGO:000243910.4IL1B, TNF
5interleukin-1 beta productionGO:003261110.4IL1B, NLRP3
6positive regulation of fever generationGO:003162210.4IL1B, TNF
7cellular response to muramyl dipeptideGO:007122510.3NOD1, NOD2
8positive regulation of type 2 immune responseGO:000283010.3NLRP3, NOD2
9cellular response to peptidoglycanGO:007122410.0NOD2, TLR2
10cytokine secretion involved in immune responseGO:000237410.0NOD2, TLR2
11positive regulation of NIK/NF-kappaB signalingGO:190122410.0NOD1, NOD2, TNF
12detection of biotic stimulusGO:00095959.9NLRP3, NOD1, NOD2
13positive regulation of phagocytosisGO:00507669.9IL1B, NOD2, TNF
14positive regulation of interferon-gamma productionGO:00327299.9IL1B, TLR4, TNF
15regulation of dendritic cell cytokine productionGO:00027309.8TLR2, TLR4
16positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.7NLRP3, NOD1, TNF
17JNK cascadeGO:00072549.6NOD1, NOD2, TNF
18negative regulation of interleukin-12 productionGO:00326959.6MEFV, NOD2, TLR2
19negative regulation of growth of symbiont in hostGO:00441309.5NOD2, TLR2, TNF
20positive regulation of nitric-oxide synthase biosynthetic processGO:00517709.5NOD2, TLR2, TLR4
21positive regulation of chemokine productionGO:00327229.4TLR2, TLR4, TNF
22nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.4MEFV, NLRP3, NOD1, NOD2
23positive regulation of interleukin-12 productionGO:00327359.4NOD2, TLR2, TLR4
24defense responseGO:00069529.3NLRP3, NOD1, NOD2, TNF
25cellular response to lipopolysaccharideGO:00712229.3IL1B, NLRP3, TLR4, TNF
26positive regulation of stress-activated MAPK cascadeGO:00328749.3IL1B, NOD1, NOD2, TLR4
27regulation of inflammatory responseGO:00507279.2NLRP3, NOD2, TLR4
28defense response to bacteriumGO:00427429.2NOD1, NOD2, TLR4, TNF
29positive regulation of NF-kappaB import into nucleusGO:00423469.0IL1B, TLR2, TLR4, TNF
30lipopolysaccharide-mediated signaling pathwayGO:00316639.0IL1B, TLR2, TLR4, TNF
31protein oligomerizationGO:00512598.9NLRP3, NOD1, NOD2
32positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431238.9IL1B, NOD1, NOD2, TLR4, TNF
33defense response to Gram-positive bacteriumGO:00508308.9NOD1, NOD2, TLR2, TNF
34positive regulation of nitric oxide biosynthetic processGO:00454298.8IL1B, TLR2, TLR4, TNF
35positive regulation of tumor necrosis factor productionGO:00327608.8NOD1, NOD2, TLR2, TLR4
36positive regulation of JNK cascadeGO:00463308.7IL1B, NOD1, NOD2, TLR4, TNF
37positive regulation of ERK1 and ERK2 cascadeGO:00703748.7IL1B, NOD1, NOD2, TLR4, TNF
38positive regulation of interleukin-8 productionGO:00327578.7IL1B, NOD2, TLR2, TLR4, TNF
39toll-like receptor signaling pathwayGO:00022248.6NOD1, NOD2, TLR2, TLR4
40MyD88-dependent toll-like receptor signaling pathwayGO:00027558.6NOD1, NOD2, TLR2, TLR4
41toll-like receptor 2 signaling pathwayGO:00341348.5NOD1, NOD2, TLR2, TLR4
42toll-like receptor 4 signaling pathwayGO:00341428.5NOD1, NOD2, TLR2, TLR4
43activation of MAPK activityGO:00001878.5IL1B, NOD1, NOD2, TLR4, TNF
44toll-like receptor TLR1:TLR2 signaling pathwayGO:00381238.5NOD1, NOD2, TLR2, TLR4
45toll-like receptor TLR6:TLR2 signaling pathwayGO:00381248.5NOD1, NOD2, TLR2, TLR4
46positive regulation of interleukin-6 productionGO:00327558.1IL1B, NOD1, NOD2, TLR2, TLR4, TNF
47inflammatory responseGO:00069548.0IL1B, MEFV, NLRP3, NOD1, TLR2, TNF
48positive regulation of transcription from RNA polymerase II promoterGO:00459447.7IL1B, NLRP3, NOD2, TLR2, TLR4, TNF
49positive regulation of NF-kappaB transcription factor activityGO:00510927.7IL1B, NLRP3, NOD1, NOD2, TLR2, TLR4
50innate immune responseGO:00450877.0IL1B, MEFV, NLRP3, NOD1, NOD2, TLR2

Molecular functions related to Blau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1CARD domain bindingGO:00507009.4NOD1, NOD2
2lipopolysaccharide receptor activityGO:00018759.2TLR2, TLR4
3lipopolysaccharide bindingGO:00015309.1TLR2, TLR4
4peptidoglycan bindingGO:00428348.4NLRP3, NOD1, NOD2, TLR2

Sources for Blau Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet