BLAUS
MCID: BLS001
MIFTS: 57

Blau Syndrome (BLAUS) 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
Sarcoidosis, Early-Onset 70 68
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
Early-Onset Sarcoidosis 25
Eos 70

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 sarcoidosis, early-onset and neuropathy, and has symptoms including joint swelling, joint swelling and glaucoma. 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 Monoamine Transport. Affiliated tissues include skin, eye and liver, and related mouse phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and skeleton.

UniProtKB/Swiss-Prot:70 Blau syndrome: An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases.

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.

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.

Wikipedia:71 \'Blau Syndrome\' is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes,... 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 127)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis, early-onset32.3NOD1, NOD2
2neuropathy29.8IL1B, TNF
3craniolenticulosutural dysplasia11.5
4eosinophilia, familial11.1
5sarcoidosis 111.0
6phenylketonuria10.8
7aural atresia, multiple congenital anomalies, and mental retardation10.8
8dermatosis papulosa nigra10.2NOD2, TNF
9amyotrophic lateral sclerosis type 510.2NOD2, TNF
10female reproductive system disease10.2NOD2, TNF
11intussusception10.2IL1B, TNF
12leptospirosis10.2NOD2, TNF
13stocco dos santos syndrome10.2IL1B, TNF
14hypotrichosis-lymphedema-telangiectasia-renal defect syndrome10.2IL1B, TNF
15twin-to-twin transfusion syndrome10.2IL1B, TNF
16anal paget's disease10.2IL1B, TNF
17multiple sulfatase deficiency10.2NOD1, NOD2
18cataract10.2IL1B, TNF
19x inactivation, familial skewed, 210.2NOD1, NOD2
20functional gastric disease10.2NOD2, TNF
21hepatic encephalopathy10.2IL1B, TNF
22bipolar i disorder10.2IL1B, TNF
23human immunodeficiency virus infectious disease10.2IL1B, TNF
24cerebellar disease10.2IL1B, TNF
25tinea capitis10.2IL1B, TNF
26measles10.2IL1B, TNF
27acute myeloid leukemia with recurrent genetic anomaly10.2NOD2, TNF
28dextrocardia10.2IL1B, TNF
29hypoparathyroidism-retardation-dysmorphism syndrome10.2IL1B, TNF
30gastroduodenal crohn's disease10.2IL1B, TNF
31childhood endodermal sinus tumor10.2IL1B, TNF
32steroid dehydrogenase deficiency dental anomalies10.2IL1B, TNF
33crohn's colitis10.2NOD2, TNF
34mikulicz disease10.2IL1B, TNF
35acquired thrombocytopenia10.2IL1B, TNF
36rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies10.2IL1B, TNF
37ectodermal dysplasia bartalos type10.2IL1B, TNF
38mineral metabolism disease10.2IL1B, TNF
39migraine with aura10.2IL1B, TNF
40rickettsialpox10.2IL1B, TNF
41autosomal recessive type iv ehlers-danlos syndrome10.2IL1B, TNF
42bladder signet ring cell adenocarcinoma10.2IL1B, TNF
43keratoconus10.1IL1B, TNF
44motility-related diarrhea10.1IL1B, TNF
45splenic artery aneurysm10.1IL1B, TNF
46urticaria10.1IL1B, TNF
47wound botulism10.1IL1B, TNF
48mycoplasmal pneumonia10.1NLRP3, TNF
49inappropriate adh syndrome10.1IL1B, TNF
50amelanotic melanoma10.1IL1B, NLRP3

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 53)
id Description HPO Frequency HPO Source Accession
1 glaucoma64 HP:0000501
2 cataract64 HP:0000518
3 uveitis64 HP:0000554
4 band keratopathy64 HP:0000585
5 abnormality of the ear64 HP:0000598
6 eczema64 HP:0000964
7 iritis64 HP:0001101
8 abnormality of the cranial nerves64 HP:0001291
9 arthritis64 HP:0001369
10 joint swelling64 HP:0001386
11 flexion contracture of toe64 HP:0005830
12 intermittent generalized erythematous papular rash64 HP:0007432
13 nongranulomatous uveitis64 HP:0007813
14 cystoid macular edema64 HP:0011505
15 camptodactyly of finger64 HP:0100490
16 synovitis64 HP:0100769
17 skin ulcer64 HP:0200042
18 nephropathy64 HP:0000112
19 xerostomia64 HP:0000217
20 retinopathy64 HP:0000488
21 keratitis64 HP:0000491
22 visual loss64 HP:0000572
23 abnormality of the choroid64 HP:0000610
24 photophobia64 HP:0000613
25 hypertension64 HP:0000822
26 hyperpigmentation of the skin64 HP:0000953
27 dry skin64 HP:0000958
28 skin rash64 HP:0000988
29 iridocyclitis64 HP:0001094
30 limitation of joint mobility64 HP:0001376
31 abnormality of the liver64 HP:0001392
32 pericarditis64 HP:0001701
33 splenomegaly64 HP:0001744
34 anemia64 HP:0001903
35 fever64 HP:0001945
36 pulmonary arterial hypertension64 HP:0002092
37 dyspnea64 HP:0002094
38 lymphadenopathy64 HP:0002716
39 arthralgia64 HP:0002829
40 stage 5 chronic kidney disease64 HP:0003774
41 aortic aneurysm64 HP:0004942
42 large vessel vasculitis64 HP:0005310
43 polyarticular arthritis64 HP:0005764
44 clear cell renal cell carcinoma64 HP:0006770
45 abnormality of the retinal vasculature64 HP:0008046
46 ichthyosis64 HP:0008064
47 abnormality of the salivary glands64 HP:0010286
48 facial palsy64 HP:0010628
49 erythema64 HP:0010783
50 posterior uveitis64 HP:0012123
51 erythema nodosum64 HP:0012219
52 retrobulbar optic neuritis64 HP:0100654
53 papule64 HP:0200034

UMLS symptoms related to Blau Syndrome:


joint swelling

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
1Defibrotideapproved, investigationalPhase 31383712-60-1
2Platelet Aggregation InhibitorsPhase 32516
3Fibrinolytic AgentsPhase 32388

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study Comparing Efficacy and Safety of Defibrotide vs Best Supportive Care in the Prevention of Hepatic Veno-Occlusive Disease in Adult and Pediatric PatientsRecruitingNCT02851407Phase 3

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, Liver, Kidney, Salivary gland

Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. (28532706)
2017
2
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. (27304707)
2016
3
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. (26606664)
2016
4
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. (27419275)
2016
5
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. (27874205)
2016
6
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. (27403452)
2016
7
Intractable leg ulcers in Blau syndrome. (26969879)
2016
8
A Case of Blau Syndrome with NOD2 E383K Mutation. (27339507)
2016
9
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. (27625029)
2016
10
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. (28018435)
2016
11
Somatic NOD2 mosaicism in Blau syndrome. (25724124)
2015
12
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. (26509073)
2015
13
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. (26712281)
2015
14
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. (26517420)
2015
15
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. (25429073)
2015
16
A new mutation in blau syndrome. (25692065)
2015
17
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. (25829188)
2015
18
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
19
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
20
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
21
Blau syndrome and latent tubercular infection: an unresolved partnership. (24646037)
2014
22
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
23
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. (25093298)
2014
24
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. (25416713)
2014
25
A case of blau syndrome. (24876985)
2014
26
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. (25136265)
2014
27
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
28
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. (23699845)
2013
29
The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. (23678609)
2013
30
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
31
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
32
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
33
Blau syndrome, clinical and genetic aspects. (22884558)
2012
34
Immunohistochemical evidence of specific iris involvement in Blau syndrome. (23215732)
2012
35
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. (22509093)
2012
36
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
37
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
38
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
39
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
40
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
41
Blau syndrome. (20947513)
2011
42
Blau syndrome revisited. (21788900)
2011
43
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
44
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. (20199415)
2010
45
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
46
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
47
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
48
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
49
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
50
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. (18718560)
2009

Variations for Blau Syndrome

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

70 (show all 11)
id Symbol AA change Variation ID SNP ID
1NOD2p.Arg334GlnVAR_012676rs104895461
2NOD2p.Arg334TrpVAR_012677rs104895462
3NOD2p.Leu469PheVAR_012685rs104895460
4NOD2p.Asp382GluVAR_023822rs104895476
5NOD2p.Glu383LysVAR_023823rs104895477
6NOD2p.His496LeuVAR_023824rs104895472
7NOD2p.Thr605AsnVAR_065228
8NOD2p.Pro507SerVAR_073180
9NOD2p.Met513ThrVAR_073238rs104895473
10NOD2p.Thr605ProVAR_073241rs104895474
11NOD2p.Asn670LysVAR_073242rs104895475

Clinvar genetic disease variations for Blau Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOD2NM_ 022162.2(NOD2): c.3019dupC (p.Leu1007Profs)duplicationrisk factorrs5743293GRCh38Chr 16, 50729870: 50729870
2NOD2NM_ 022162.2(NOD2): c.2722G> C (p.Gly908Arg)SNVrisk factorrs2066845GRCh37Chr 16, 50756540: 50756540
3NOD2NM_ 022162.2(NOD2): c.2104C> T (p.Arg702Trp)SNVrisk factorrs2066844GRCh37Chr 16, 50745926: 50745926
4NOD2NM_ 022162.2(NOD2): c.1001G> A (p.Arg334Gln)SNVPathogenicrs104895461GRCh37Chr 16, 50744823: 50744823
5NOD2NM_ 022162.2(NOD2): c.1405C> T (p.Leu469Phe)SNVPathogenicrs104895460GRCh37Chr 16, 50745227: 50745227
6NOD2NM_ 022162.2(NOD2): c.1000C> T (p.Arg334Trp)SNVPathogenicrs104895462GRCh37Chr 16, 50744822: 50744822
7NOD2NM_ 022162.2(NOD2): c.2798+158C> TSNVPathogenic, risk factorrs5743289GRCh37Chr 16, 50756774: 50756774
8NOD2NM_ 022162.2(NOD2): c.1487A> T (p.His496Leu)SNVPathogenicrs104895472GRCh37Chr 16, 50745309: 50745309
9NOD2NM_ 022162.2(NOD2): c.1146C> G (p.Asp382Glu)SNVPathogenicrs104895476GRCh37Chr 16, 50744968: 50744968
10NOD2NM_ 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 26)
idSuper pathwaysScoreTop Affiliating Genes
19.7NOD2, TNF
2
Show member pathways
9.6IL1B, TNF
39.6IL1B, TNF
49.6IL1B, TNF
59.6IL1B, TNF
69.6IL1B, TNF
79.6IL1B, TNF
89.6IL1B, TNF
99.6IL1B, TNF
109.6IL1B, TNF
119.6IL1B, TNF
129.6IL1B, TNF
139.6IL1B, TNF
149.6IL1B, TNF
159.6IL1B, TNF
169.5IL1B, NLRP3
179.5NOD1, NOD2
189.2IL1B, NOD2, TNF
19
Show member pathways
9.2IL1B, NOD2, TNF
209.2IL1B, NOD2, TNF
21
Show member pathways
9.0IL1B, NOD1, NOD2
229.0IL1B, NOD1, TNF
238.5IL1B, NLRP3, NOD1, TNF
24
Show member pathways
8.1MEFV, NLRP3, NOD1, NOD2
257.7IL1B, MEFV, NLRP3, NOD1, NOD2
26
Show member pathways
7.3IL1B, MEFV, NLRP3, NOD1, NOD2, TNF

GO Terms for genes affiliated with Blau Syndrome

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

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1lipopolysaccharide-mediated signaling pathwayGO:003166310.4IL1B, TNF
2negative regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124010.4IL1B, TNF
3negative regulation of lipid catabolic processGO:005099510.4IL1B, TNF
4positive regulation of calcidiol 1-monooxygenase activityGO:006055910.4IL1B, TNF
5positive regulation of chemokine biosynthetic processGO:004508010.4IL1B, TNF
6positive regulation of fever generationGO:003162210.4IL1B, TNF
7positive regulation of heterotypic cell-cell adhesionGO:003411610.4IL1B, TNF
8positive regulation of interferon-gamma productionGO:003272910.3IL1B, TNF
9positive regulation of membrane protein ectodomain proteolysisGO:005104410.3IL1B, TNF
10positive regulation of NF-kappaB import into nucleusGO:004234610.3IL1B, TNF
11positive regulation of nitric oxide biosynthetic processGO:004542910.3IL1B, TNF
12positive regulation of phagocytosisGO:005076610.3IL1B, TNF
13positive regulation of interleukin-1 beta secretionGO:005071810.3NLRP3, NOD2
14cellular response to muramyl dipeptideGO:007122510.3NOD1, NOD2
15detection of bacteriumGO:001604510.3NOD1, NOD2
16interleukin-1 beta productionGO:003261110.3IL1B, NLRP3
17nucleotide-binding oligomerization domain containing signaling pathwayGO:007042310.2NOD1, NOD2
18positive regulation of dendritic cell antigen processing and presentationGO:000260610.2NOD1, NOD2
19positive regulation of type 2 immune responseGO:000283010.2NLRP3, NOD2
20positive regulation of interleukin-1 beta productionGO:003273110.2NOD1, NOD2
21positive regulation of stress-activated MAPK cascadeGO:003287410.2NOD1, NOD2
22protein kinase B signalingGO:004349110.1IL1B, TNF
23positive regulation of tumor necrosis factor productionGO:003276010.1NOD1, NOD2
24cellular response to organic cyclic compoundGO:007140710.0IL1B, NOD2, TNF
25positive regulation of interleukin-8 productionGO:003275710.0IL1B, NOD2, TNF
26regulation of establishment of endothelial barrierGO:19031409.9IL1B, TNF
27defense response to bacteriumGO:00427429.8NOD1, NOD2, TNF
28JNK cascadeGO:00072549.8NOD1, NOD2, TNF
29positive regulation of ERK1 and ERK2 cascadeGO:00703749.8NOD1, NOD2, TNF
30positive regulation of NIK/NF-kappaB signalingGO:19012249.8NOD1, NOD2, TNF
31detection of biotic stimulusGO:00095959.7NLRP3, NOD1, NOD2
32activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.7NLRP3, NOD1, TNF
33regulation of I-kappaB kinase/NF-kappaB signalingGO:00431229.7IL1B, TNF
34positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.7NLRP3, NOD1, TNF
35sequestering of triglycerideGO:00307309.6IL1B, TNF
36protein deubiquitinationGO:00165799.5NLRP3, NOD1, NOD2
37activation of MAPK activityGO:00001879.4IL1B, NOD1, NOD2, TNF
38positive regulation of transcription from RNA polymerase II promoterGO:00459449.4IL1B, NLRP3, NOD2, TNF
39negative regulation of inflammatory responseGO:00507289.4MEFV, MVK, NLRP3
40positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.4IL1B, NOD1, NOD2, TNF
41positive regulation of interleukin-6 productionGO:00327559.4IL1B, 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
45immune system processGO:00023768.9MEFV, NLRP3, NOD1, NOD2
46innate immune responseGO:00450878.9MEFV, NLRP3, NOD1, NOD2
47positive regulation of NF-kappaB transcription factor activityGO:00510928.8IL1B, NLRP3, NOD1, NOD2, TNF
48inflammatory 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:005070010.2NOD1, NOD2
2peptidoglycan bindingGO:00428349.0NLRP3, NOD1, NOD2
3identical protein bindingGO:00428028.7MVK, NLRP3, NOD1, TNF

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