MCID: BLS001
MIFTS: 56

Blau Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Blau Syndrome

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Aliases & Descriptions for Blau Syndrome:

Name: Blau Syndrome 52 11 48 24 25 70 12 50 13
Arthrocutaneouveal Granulomatosis 11 48 25 70
Jabs Syndrome 11 48 70
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 48 25
Familial Juvenile Systemic Granulomatosis 25 70
Blaus 70 27
Acug 48 70
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 70
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 68
 
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 48
Granulomatosis, Familial Juvenile Systemic 48
Granulomatosis, Familial, Blau Type 48
Familial Granulomatosis, Blau Type 25
Pediatric Granulomatous Arthritis 25
Familial Granulomatosis Blau Type 70
Sarcoidosis, Early-Onset 68
Early-Onset Sarcoidosis 25

Characteristics:

HPO:

64
blau syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 186580
Disease Ontology11 DOID:0050678
NCIt45 C116794
MedGen37 C1861303

Summaries for Blau Syndrome

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NIH Rare Diseases:48 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 craniolenticulosutural dysplasia and sarcoidosis, early-onset, 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 IL-10 Pathway. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and skeleton.

Disease Ontology:11 An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes.

Genetics Home Reference:25 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:70 Blau syndrome: A rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.

Wikipedia:71 In 1985 Edward Blau, a pediatrician in Marshfield Wisconsin, reported a family that over four... more...

Description from OMIM:52 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 154)
idRelated DiseaseScoreTop Affiliating Genes
1craniolenticulosutural dysplasia11.5
2sarcoidosis, early-onset11.4
3phenylketonuria10.8
4aural atresia, multiple congenital anomalies, and mental retardation10.8
5acneiform dermatitis10.5NOD2, TNF
6crohn's colitis10.5NOD2, TNF
7phlyctenulosis10.5NOD2, TNF
8oropharynx cancer10.5NOD2, TNF
9spondylohypoplasia, arthrogryposis and popliteal pterygium10.5NOD2, TNF
10capillary lymphangioma10.5NOD2, TNF
11female reproductive system disease10.5NOD2, TNF
12uterine corpus endometrial stromal sarcoma10.4NOD2, TNF
13gastroduodenal crohn's disease10.4NOD2, TNF
14chromosome 9p deletion syndrome10.4NOD2, TNF
15lacrimal system cancer10.4NOD2, TNF
16thyroid malformation10.4IL1B, TNF
17hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss10.4IL1B, TNF
18baetz-greenwalt syndrome10.4IL1B, TNF
19pulmonary hypertension10.4IL1B, TNF
20scrotum paget's disease10.4IL1B, TNF
21cartilage disease10.4IL1B, TNF
22hypothyroidism10.4IL1B, TNF
23autoimmune polyendocrine syndrome10.4IL1B, TNF
24ileocolitis10.4IL1B, TNF
25rectosigmoid junction neoplasm10.4IL1B, TNF
26skin disease10.4IL1B, TNF
27scarlet fever10.4IL1B, TNF
28non-secretory myeloma10.4IL1B, TNF
29spastic paraplegia-paget disease of bone syndrome10.4IL1B, TNF
30paraphimosis10.4IL1B, TNF
31qualitative platelet defect10.4IL1B, TNF
32sterility due to immotile flagella10.4IL1B, TNF
33burns10.4IL1B, TNF
34orbital lymphangioma10.4IL1B, TNF
35pseudoretinitis pigmentosa10.4IL1B, TNF
36paraneoplastic polyneuropathy10.4IL1B, TNF
37scn8a encephalopathy10.4IL1B, TNF
38thoracic aortic aneurysm10.4IL1B, TNF
39ampulla of vater neoplasm10.4IL1B, TNF
40foodborne botulism10.4IL1B, TNF
41inner ear cancer10.4IL1B, TNF
42keloids10.4IL1B, TNF
43accessory nerve disease10.4IL1B, TNF
44osmotic diarrhea10.4IL1B, TNF
45oesophagostomiasis10.4IL1B, TNF
46tibialis tendinitis10.4IL1B, TNF
47bartonellosis10.4IL1B, TNF
48gastric dilatation10.4IL1B, TNF
49kidney angiomyolipoma10.4IL1B, TNF
50ehlers-danlos syndrome, musculocontractural type10.4IL1B, TNF

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



Diseases related to blau syndrome

Symptoms & Phenotypes for Blau Syndrome

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Symptoms by clinical synopsis from OMIM:

186580

Clinical features from OMIM:

186580

Human phenotypes related to Blau Syndrome:

 64 (show all 48)
id Description HPO Frequency HPO Source Accession
1 skin rash64 hallmark (90%) HP:0000988
2 hypermelanotic macule64 hallmark (90%) HP:0001034
3 arthritis64 hallmark (90%) HP:0001369
4 limitation of joint mobility64 hallmark (90%) HP:0001376
5 joint swelling64 hallmark (90%) HP:0001386
6 arthralgia64 hallmark (90%) HP:0002829
7 glaucoma64 typical (50%) HP:0000501
8 cataract64 typical (50%) HP:0000518
9 photophobia64 typical (50%) HP:0000613
10 dry skin64 typical (50%) HP:0000958
11 abnormality of temperature regulation64 typical (50%) HP:0004370
12 camptodactyly of finger64 typical (50%) HP:0100490
13 renal insufficiency64 occasional (7.5%) HP:0000083
14 nephropathy64 occasional (7.5%) HP:0000112
15 xerostomia64 occasional (7.5%) HP:0000217
16 retinopathy64 occasional (7.5%) HP:0000488
17 visual impairment64 occasional (7.5%) HP:0000505
18 optic atrophy64 occasional (7.5%) HP:0000648
19 hypertension64 occasional (7.5%) HP:0000822
20 choroideremia64 occasional (7.5%) HP:0001139
21 abnormality of the liver64 occasional (7.5%) HP:0001392
22 abnormality of the pericardium64 occasional (7.5%) HP:0001697
23 splenomegaly64 occasional (7.5%) HP:0001744
24 anemia64 occasional (7.5%) HP:0001903
25 subcutaneous hemorrhage64 occasional (7.5%) HP:0001933
26 morphological abnormality of the central nervous system64 occasional (7.5%) HP:0002011
27 pulmonary hypertension64 occasional (7.5%) HP:0002092
28 respiratory insufficiency64 occasional (7.5%) HP:0002093
29 vasculitis64 occasional (7.5%) HP:0002633
30 lymphadenopathy64 occasional (7.5%) HP:0002716
31 dilatation of the ascending aorta64 occasional (7.5%) HP:0005111
32 ichthyosis64 occasional (7.5%) HP:0008064
33 renal neoplasm64 occasional (7.5%) HP:0009726
34 abnormality of the salivary glands64 occasional (7.5%) HP:0010286
35 facial palsy64 occasional (7.5%) HP:0010628
36 retrobulbar optic neuritis64 occasional (7.5%) HP:0100654
37 skin ulcer64 occasional (7.5%) HP:0200042
38 uveitis64 HP:0000554
39 band keratopathy64 HP:0000585
40 abnormality of the ear64 HP:0000598
41 eczema64 HP:0000964
42 iritis64 HP:0001101
43 abnormality of the cranial nerves64 HP:0001291
44 flexion contracture of toe64 HP:0005830
45 intermittent generalized erythematous papular rash64 HP:0007432
46 nongranulomatous uveitis64 HP:0007813
47 cystoid macular edema64 HP:0011505
48 synovitis64 HP:0100769

UMLS symptoms related to Blau Syndrome:


exanthema, joint swelling, macular rash, erythema scarlatiniforme, ciliary hyperaemia, mucocutaneous rash, nodular rash

GenomeRNAi Phenotypes related to Blau Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-15.7IL1B, NLRP3, NOD1, NOD2, TNF, IL1B

MGI Mouse Phenotypes related to Blau Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6IL1B, MEFV, NLRP3, NOD2, TNF
2MP:00053978.1IL1B, MEFV, NLRP3, NOD1, NOD2, TNF
3MP:00053878.1IL1B, MEFV, NLRP3, NOD1, NOD2, TNF

Drugs & Therapeutics for Blau Syndrome

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Drugs for Blau Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
nivolumabapproved326946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pattern of Use and Safety/Effectiveness of Nivolumab in Routine Oncology PracticeRecruitingNCT02847728

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 Syndrome27 24 NOD2

Anatomical Context for Blau Syndrome

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MalaCards organs/tissues related to Blau Syndrome:

36
Skin, Eye, Heart, Liver, Salivary gland

Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. (28018435)
2016
2
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. (27625029)
2016
3
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. (27403452)
2016
4
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. (27304707)
2016
5
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. (27874205)
2016
6
Intractable leg ulcers in Blau syndrome. (26969879)
2016
7
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. (26606664)
2016
8
A Case of Blau Syndrome with NOD2 E383K Mutation. (27339507)
2016
9
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. (27419275)
2016
10
Somatic NOD2 mosaicism in Blau syndrome. (25724124)
2015
11
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. (25429073)
2015
12
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. (26517420)
2015
13
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. (25829188)
2015
14
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. (26712281)
2015
15
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. (26509073)
2015
16
A new mutation in blau syndrome. (25692065)
2015
17
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
18
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
19
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
20
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. (25136265)
2014
21
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. (25093298)
2014
22
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. (25416713)
2014
23
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
24
A case of blau syndrome. (24876985)
2014
25
Blau syndrome and latent tubercular infection: an unresolved partnership. (24646037)
2014
26
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
27
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
28
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
29
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
30
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. (23699845)
2013
31
The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. (23678609)
2013
32
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
33
Blau syndrome, clinical and genetic aspects. (22884558)
2012
34
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. (22509093)
2012
35
Immunohistochemical evidence of specific iris involvement in Blau syndrome. (23215732)
2012
36
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
37
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
38
Blau syndrome revisited. (21788900)
2011
39
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
40
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
41
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
42
Blau syndrome. (20947513)
2011
43
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
44
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
45
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
46
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
47
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. (20199415)
2010
48
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
49
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
50
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009

Variations for Blau Syndrome

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

70
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)SNVPathogenicrs104895461GRCh37Chr 16, 50744823: 50744823
2NOD2NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe)SNVPathogenicrs104895460GRCh37Chr 16, 50745227: 50745227
3NOD2NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp)SNVPathogenicrs104895462GRCh37Chr 16, 50744822: 50744822
4NOD2NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys)SNVPathogenicrs104895477GRCh37Chr 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 20)
idSuper pathwaysScoreTop Affiliating Genes
19.7NOD2, TNF
29.6IL1B, TNF
39.6IL1B, TNF
4
Show member pathways
9.6IL1B, TNF
59.6IL1B, TNF
69.6IL1B, TNF
79.6IL1B, TNF
89.6IL1B, TNF
99.6IL1B, TNF
109.6IL1B, TNF
119.6IL1B, TNF
129.2IL1B, NOD2, TNF
139.2IL1B, NOD2, TNF
14
Show member pathways
9.0IL1B, NOD1, NOD2
15
Show member pathways
9.0IL1B, NOD1, NOD2
169.0IL1B, NOD1, TNF
178.5IL1B, NLRP3, NOD1, TNF
18
Show member pathways
8.1IL1B, NLRP3, NOD1, NOD2, TNF
19
Show member pathways
7.3IL1B, MEFV, NLRP3, NOD1, NOD2, TNF
20
Show member pathways
7.3IL1B, MEFV, NLRP3, NOD1, NOD2, TNF

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
1cytosolGO:00058297.2IL1B, MEFV, MVK, NLRP3, NOD1, NOD2

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

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1chronic inflammatory response to antigenic stimulusGO:000243910.4IL1B, TNF
2lipopolysaccharide-mediated signaling pathwayGO:003166310.4IL1B, TNF
3negative regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124010.4IL1B, TNF
4negative regulation of lipid catabolic processGO:005099510.4IL1B, TNF
5positive regulation of calcidiol 1-monooxygenase activityGO:006055910.4IL1B, TNF
6positive regulation of chemokine biosynthetic processGO:004508010.4IL1B, TNF
7positive regulation of fever generationGO:003162210.3IL1B, TNF
8positive regulation of heterotypic cell-cell adhesionGO:003411610.3IL1B, TNF
9positive regulation of interferon-gamma productionGO:003272910.3IL1B, TNF
10positive regulation of JUN kinase activityGO:004350710.3IL1B, TNF
11positive regulation of membrane protein ectodomain proteolysisGO:005104410.3IL1B, TNF
12positive regulation of NF-kappaB import into nucleusGO:004234610.3IL1B, TNF
13positive regulation of nitric oxide biosynthetic processGO:004542910.3IL1B, TNF
14positive regulation of phagocytosisGO:005076610.3IL1B, TNF
15positive regulation of interleukin-1 beta secretionGO:005071810.3NLRP3, NOD2
16interleukin-1 beta productionGO:003261110.2IL1B, NLRP3
17cellular response to muramyl dipeptideGO:007122510.2NOD1, NOD2
18detection of bacteriumGO:001604510.2NOD1, NOD2
19nucleotide-binding oligomerization domain containing signaling pathwayGO:007042310.2NOD1, NOD2
20positive regulation of dendritic cell antigen processing and presentationGO:000260610.2NOD1, NOD2
21positive regulation of interleukin-1 beta productionGO:003273110.2NOD1, NOD2
22positive regulation of stress-activated MAPK cascadeGO:003287410.2NOD1, NOD2
23protein kinase B signalingGO:004349110.1IL1B, TNF
24positive regulation of type 2 immune responseGO:000283010.1NLRP3, NOD2
25positive regulation of tumor necrosis factor productionGO:003276010.0NOD1, NOD2
26cellular response to organic cyclic compoundGO:007140710.0IL1B, NOD2, TNF
27positive regulation of interleukin-8 productionGO:003275710.0IL1B, NOD2, TNF
28regulation of establishment of endothelial barrierGO:19031409.9IL1B, TNF
29defense response to bacteriumGO:00427429.8NOD1, NOD2, TNF
30JNK cascadeGO:00072549.8NOD1, NOD2, TNF
31positive regulation of NIK/NF-kappaB signalingGO:19012249.8NOD1, NOD2, TNF
32detection of biotic stimulusGO:00095959.7NLRP3, NOD1, NOD2
33activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.7NLRP3, NOD1, TNF
34regulation of I-kappaB kinase/NF-kappaB signalingGO:00431229.7IL1B, TNF
35positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.7NLRP3, NOD1, TNF
36sequestering of triglycerideGO:00307309.6IL1B, TNF
37activation of MAPK activityGO:00001879.4IL1B, NOD1, NOD2, TNF
38negative regulation of inflammatory responseGO:00507289.4MEFV, MVK, NLRP3
39positive regulation of ERK1 and ERK2 cascadeGO:00703749.4IL1B, NOD1, NOD2, TNF
40positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3IL1B, NOD1, NOD2, TNF
41positive regulation of interleukin-6 productionGO:00327559.3IL1B, NOD1, NOD2, TNF
42positive regulation of JNK cascadeGO:00463309.3IL1B, NOD1, NOD2, TNF
43protein oligomerizationGO:00512599.3NLRP3, NOD1, NOD2
44defense responseGO:00069529.3NLRP3, NOD1, NOD2, TNF
45positive regulation of transcription from RNA polymerase II promoterGO:00459449.3IL1B, NLRP3, NOD2, TNF
46positive regulation of NF-kappaB transcription factor activityGO:00510928.8IL1B, NLRP3, NOD1, NOD2, TNF
47inflammatory responseGO:00069548.4IL1B, MEFV, NLRP3, NOD1, TNF

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

idNameGO IDScoreTop Affiliating Genes
1CARD domain bindingGO:00507009.7NOD1, NOD2
2peptidoglycan bindingGO:00428349.0NLRP3, NOD1, NOD2

Sources for Blau Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet