MCID: BLS001
MIFTS: 61

Blau Syndrome

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

Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 54 12 50 24 25 71 29 13 52 14
Arthrocutaneouveal Granulomatosis 12 50 25 71
Sarcoidosis, Early-Onset 71 29 13 69
Jabs Syndrome 12 50 71
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 50 25
Familial Juvenile Systemic Granulomatosis 25 71
Acug 50 71
Eos 24 71
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 71
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 69
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 50
Granulomatosis, Familial Juvenile Systemic 50
Granulomatosis, Familial, Blau Type 50
Familial Granulomatosis, Blau Type 25
Pediatric Granulomatous Arthritis 25
Familial Granulomatosis Blau Type 71
Early Onset Sarcoidosis 24
Early-Onset Sarcoidosis 25
Blaus 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in first 2 decades of life
variable manifestation of features
favorable response to intermittent, low-dose steroid therapy
allelic disorder to early-onset sarcoidosis


HPO:

32
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blau Syndrome

OMIM : 54
Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). (186580)

MalaCards based summary : Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to choroiditis and craniolenticulosutural dysplasia, and has symptoms including splenomegaly, anemia and glaucoma. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are Innate Immune System and Th17 cell differentiation. The drugs Defibrotide and Fibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

Disease Ontology : 12 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.

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 \'Blau Syndrome\' is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes,... more...

Related Diseases for Blau Syndrome

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

(show top 50) (show all 161)
id Related Disease Score Top Affiliating Genes
1 choroiditis 30.1 IL1B TNF
2 craniolenticulosutural dysplasia 11.5
3 eosinophilia, familial 11.0
4 phenylketonuria 10.8
5 aural atresia, multiple congenital anomalies, and mental retardation 10.8
6 crohn's colitis 10.6 NOD2 TNF
7 neuromuscular disease 10.6 NOD2 TNF
8 female reproductive system disease 10.5 NOD2 TNF
9 functional gastric disease 10.5 NOD2 TNF
10 leptospirosis 10.5 NOD2 TNF
11 gastroduodenal crohn's disease 10.5 NOD2 TNF
12 sternal cleft 10.5 IL1B TNF
13 pulmonary hypertension 10.5 IL1B TNF
14 acute monoblastic leukemia 10.5 NOD2 TNF
15 cataract 10.5 IL1B TNF
16 scrotal carcinoma 10.5 IL1B TNF
17 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 10.5 IL1B TNF
18 membranoproliferative glomerulonephritis 10.5 NOD2 TNF
19 upper gum cancer 10.5 IL1B TNF
20 moved to 244450 10.5 IL1B TNF
21 bipolar i disorder 10.5 IL1B TNF
22 lung sarcoma 10.5 IL1B TNF
23 tinea favosa 10.5 IL1B TNF
24 central nervous system leiomyosarcoma 10.5 IL1B TNF
25 multiple sulfatase deficiency 10.5 NOD1 NOD2
26 epulis 10.5 IL1B TNF
27 indolent myeloma 10.5 IL1B TNF
28 stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features 10.5 IL1B TNF
29 ileocolitis 10.5 IL1B TNF
30 x inactivation, familial skewed, 2 10.5 NOD1 NOD2
31 saethre-chotzen syndrome 10.5 NOD1 NOD2
32 early-onset zonular cataract 10.5 IL1B TNF
33 acquired thrombocytopenia 10.5 IL1B TNF
34 ampulla of vater neoplasm 10.5 IL1B TNF
35 megaloblastic anemia 10.4 IL1B TNF
36 arthus reaction 10.4 IL1B TNF
37 keloids 10.4 IL1B TNF
38 brucella canis brucellosis 10.4 IL1B TNF
39 testicular infarct 10.4 IL1B TNF
40 foodborne botulism 10.4 IL1B TNF
41 bartonellosis 10.4 IL1B TNF
42 ovarian mucinous adenofibroma 10.4 IL1B TNF
43 myeloid sarcoma 10.4 IL1B TNF
44 human monocytic ehrlichiosis 10.4 IL1B TNF
45 high pressure neurological syndrome 10.4 IL1B TNF
46 ostertagiasis 10.4 IL1B TNF
47 osmotic diarrhea 10.4 IL1B TNF
48 mikulicz disease 10.4 IL1B TNF
49 palmoplantar keratosis 10.4 IL1B TNF
50 breast disease 10.4 IL1B TNF

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



Diseases related to Blau Syndrome

Symptoms & Phenotypes for Blau Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
joint contractures
joint swelling
granulomatous synovitis
granulomatous arthritis
synovial cysts
more
Skeletal- Hands:
camptodactyly
flexion contractures of the fingers

Skin Nails & Hair- Skin:
granulomatous dermatitis
intermittent generalized erythematous papular rash
skin ulceration
skin biopsy shows noncaseating granulomas
cysts over wrist and ankle joints

Head And Neck- Eyes:
cataracts
glaucoma
band keratopathy
iritis
uveitis
more
Skeletal- Feet:
flexion contractures of the toes


Clinical features from OMIM:

186580

Human phenotypes related to Blau Syndrome:

32 (show top 50) (show all 53)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 occasional (7.5%) HP:0001744
2 anemia 32 occasional (7.5%) HP:0001903
3 glaucoma 32 frequent (33%) HP:0000501
4 cataract 32 frequent (33%) HP:0000518
5 photophobia 32 frequent (33%) HP:0000613
6 pericarditis 32 occasional (7.5%) HP:0001701
7 arthritis 32 HP:0001369
8 hypertension 32 occasional (7.5%) HP:0000822
9 dyspnea 32 occasional (7.5%) HP:0002094
10 ichthyosis 32 occasional (7.5%) HP:0008064
11 fever 32 frequent (33%) HP:0001945
12 dry skin 32 frequent (33%) HP:0000958
13 lymphadenopathy 32 occasional (7.5%) HP:0002716
14 eczema 32 HP:0000964
15 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
16 retinopathy 32 occasional (7.5%) HP:0000488
17 skin rash 32 hallmark (90%) HP:0000988
18 arthralgia 32 hallmark (90%) HP:0002829
19 visual loss 32 occasional (7.5%) HP:0000572
20 aortic aneurysm 32 occasional (7.5%) HP:0004942
21 erythema 32 hallmark (90%) HP:0010783
22 nephropathy 32 occasional (7.5%) HP:0000112
23 xerostomia 32 occasional (7.5%) HP:0000217
24 band keratopathy 32 HP:0000585
25 joint swelling 32 hallmark (90%) HP:0001386
26 facial palsy 32 occasional (7.5%) HP:0010628
27 iritis 32 HP:0001101
28 uveitis 32 HP:0000554
29 erythema nodosum 32 frequent (33%) HP:0012219
30 iridocyclitis 32 hallmark (90%) HP:0001094
31 keratitis 32 hallmark (90%) HP:0000491
32 cystoid macular edema 32 HP:0011505
33 polyarticular arthritis 32 hallmark (90%) HP:0005764
34 intermittent generalized erythematous papular rash 32 HP:0007432
35 limitation of joint mobility 32 hallmark (90%) HP:0001376
36 skin ulcer 32 occasional (7.5%) HP:0200042
37 abnormality of the retinal vasculature 32 occasional (7.5%) HP:0008046
38 abnormality of the choroid 32 occasional (7.5%) HP:0000610
39 papule 32 hallmark (90%) HP:0200034
40 camptodactyly of finger 32 frequent (33%) HP:0100490
41 flexion contracture of toe 32 HP:0005830
42 abnormality of the liver 32 occasional (7.5%) HP:0001392
43 retrobulbar optic neuritis 32 occasional (7.5%) HP:0100654
44 hyperpigmentation of the skin 32 hallmark (90%) HP:0000953
45 stage 5 chronic kidney disease 32 occasional (7.5%) HP:0003774
46 abnormality of the salivary glands 32 occasional (7.5%) HP:0010286
47 abnormality of the cranial nerves 32 HP:0001291
48 abnormality of the ear 32 HP:0000598
49 large vessel vasculitis 32 occasional (7.5%) HP:0005310
50 synovitis 32 hallmark (90%) HP:0100769

UMLS symptoms related to Blau Syndrome:


joint swelling

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 IL1B NLRP3 NOD1 NOD2 TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 IL1B NLRP3 NOD1 NOD2 TNF

MGI Mouse Phenotypes related to Blau Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 IL1B MEFV NLRP3 NOD1 NOD2 TNF
2 immune system MP:0005387 9.43 IL1B MEFV NLRP3 NOD1 NOD2 TNF
3 skeleton MP:0005390 9.02 IL1B MEFV NLRP3 NOD2 TNF

Drugs & Therapeutics for Blau Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Defibrotide Approved, Investigational Phase 3 83712-60-1
2 Fibrinolytic Agents Phase 3
3 Platelet Aggregation Inhibitors Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study Comparing Efficacy and Safety of Defibrotide vs Best Supportive Care in the Prevention of Hepatic Veno-Occlusive Disease in Adult and Pediatric Patients Recruiting NCT02851407 Phase 3 Defibrotide

Search NIH Clinical Center for Blau Syndrome

Genetic Tests for Blau Syndrome

Genetic tests related to Blau Syndrome:

id Genetic test Affiliating Genes
1 Blau Syndrome 29 24 NOD2
2 Sarcoidosis, Early-Onset 29
3 Early Onset Sarcoidosis 24 NOD2

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

39
Skin, Eye, Liver, Kidney, Salivary Gland

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(show top 50) (show all 93)
id Title Authors Year
1
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. ( 28750667 )
2017
2
Pluripotent stem cell models of Blau syndrome reveal an IFN-I^-dependent inflammatory response in macrophages. ( 28587749 )
2017
3
Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome. ( 28604349 )
2017
4
Oral Macrolides for the Dermatologic Manifestations of Blau Syndrome. ( 28724114 )
2017
5
Two Chinese pedigrees of Blau syndrome with thirteen affected members. ( 28721627 )
2017
6
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. ( 28532706 )
2017
7
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. ( 28887115 )
2017
8
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. ( 28639104 )
2017
9
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function. ( 28836875 )
2017
10
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. ( 27874205 )
2016
11
A Case of Blau Syndrome with NOD2 E383K Mutation. ( 27339507 )
2016
12
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. ( 27403452 )
2016
13
Intractable leg ulcers in Blau syndrome. ( 26969879 )
2016
14
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. ( 28018435 )
2016
15
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. ( 27419275 )
2016
16
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. ( 27304707 )
2016
17
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. ( 26606664 )
2016
18
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. ( 27625029 )
2016
19
A new mutation in blau syndrome. ( 25692065 )
2015
20
Somatic NOD2 mosaicism in Blau syndrome. ( 25724124 )
2015
21
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. ( 25829188 )
2015
22
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. ( 26509073 )
2015
23
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. ( 26517420 )
2015
24
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. ( 26712281 )
2015
25
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. ( 25429073 )
2015
26
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
27
A case of blau syndrome. ( 24876985 )
2014
28
Blau syndrome and latent tubercular infection: an unresolved partnership. ( 24646037 )
2014
29
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). ( 25209167 )
2014
30
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. ( 24713464 )
2014
31
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. ( 25416713 )
2014
32
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. ( 25182201 )
2014
33
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. ( 25093298 )
2014
34
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. ( 25136265 )
2014
35
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? ( 22821420 )
2013
36
Blau syndrome-associated uveitis and the NOD2 gene. ( 24010719 )
2013
37
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. ( 23124805 )
2013
38
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. ( 23896186 )
2013
39
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. ( 23699845 )
2013
40
[The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. ( 23678609 )
2013
41
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. ( 22509093 )
2012
42
Immunohistochemical evidence of specific iris involvement in Blau syndrome. ( 23215732 )
2012
43
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. ( 22464675 )
2012
44
Blau syndrome, clinical and genetic aspects. ( 22884558 )
2012
45
Blau syndrome. ( 20947513 )
2011
46
Etanercept-induced myelopathy in a pediatric case of blau syndrome. ( 22937436 )
2011
47
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. ( 22142748 )
2011
48
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. ( 21596301 )
2011
49
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. ( 21320290 )
2011
50
Blau syndrome revisited. ( 21788900 )
2011

Variations for Blau Syndrome

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

71 (show all 11)
id Symbol AA change Variation ID SNP ID
1 NOD2 p.Arg334Gln VAR_012676 rs104895461
2 NOD2 p.Arg334Trp VAR_012677 rs104895462
3 NOD2 p.Leu469Phe VAR_012685 rs104895460
4 NOD2 p.Asp382Glu VAR_023822 rs104895476
5 NOD2 p.Glu383Lys VAR_023823 rs104895477
6 NOD2 p.His496Leu VAR_023824 rs104895472
7 NOD2 p.Thr605Asn VAR_065228
8 NOD2 p.Pro507Ser VAR_073180
9 NOD2 p.Met513Thr VAR_073238 rs104895473
10 NOD2 p.Thr605Pro VAR_073241 rs104895474
11 NOD2 p.Asn670Lys VAR_073242 rs104895475

ClinVar genetic disease variations for Blau Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh38 Chromosome 16, 50729870: 50729870
2 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh37 Chromosome 16, 50756540: 50756540
3 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh37 Chromosome 16, 50745926: 50745926
4 NOD2 NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh37 Chromosome 16, 50744823: 50744823
5 NOD2 NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe) single nucleotide variant Pathogenic rs104895460 GRCh37 Chromosome 16, 50745227: 50745227
6 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh37 Chromosome 16, 50744822: 50744822
7 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774
8 NOD2 NM_022162.2(NOD2): c.1487A> T (p.His496Leu) single nucleotide variant Pathogenic rs104895472 GRCh37 Chromosome 16, 50745309: 50745309
9 NOD2 NM_022162.2(NOD2): c.1146C> G (p.Asp382Glu) single nucleotide variant Pathogenic rs104895476 GRCh37 Chromosome 16, 50744968: 50744968
10 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh37 Chromosome 16, 50744969: 50744969

Expression for Blau Syndrome

Search GEO for disease gene expression data for Blau Syndrome.

Pathways for Blau Syndrome

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

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 IL1B MEFV NLRP3 NOD1 NOD2 TNF
2
Show member pathways
12.34 IL1B NOD2 TNF
3
Show member pathways
12.27 IL1B MEFV NLRP3 NOD1 NOD2 TNF
4 12.26 IL1B NOD1 TNF
5
Show member pathways
11.96 IL1B NOD1 NOD2
6 11.83 IL1B NOD2 TNF
7
Show member pathways
11.62 MEFV NLRP3 NOD1 NOD2
8 11.53 IL1B NOD2 TNF
9 11.37 IL1B TNF
10 11.34 IL1B NLRP3 NOD1 TNF
11 11.31 IL1B TNF
12 11.3 IL1B TNF
13 11.29 IL1B TNF
14 11.28 IL1B TNF
15 11.24 IL1B TNF
16
Show member pathways
11.21 IL1B TNF
17 11.14 NOD1 NOD2
18 11.1 IL1B TNF
19 11.09 IL1B TNF
20 11.04 IL1B TNF
21 11.02 IL1B TNF
22 10.99 IL1B TNF
23 10.89 IL1B NLRP3
24 10.82 NOD2 TNF
25 10.78 IL1B TNF
26 10.63 IL1B MEFV NLRP3 NOD1 NOD2
27 10.57 IL1B TNF

GO Terms for Blau Syndrome

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

(show all 47)
id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.95 MEFV NLRP3 NOD1 NOD2
2 immune system process GO:0002376 9.94 MEFV NLRP3 NOD1 NOD2
3 protein deubiquitination GO:0016579 9.87 NLRP3 NOD1 NOD2
4 defense response to bacterium GO:0042742 9.85 NOD1 NOD2 TNF
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 NOD1 NOD2 TNF
6 negative regulation of inflammatory response GO:0050728 9.79 MEFV MVK NLRP3
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 IL1B NOD1 NOD2 TNF
8 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.77 NLRP3 NOD1 TNF
9 inflammatory response GO:0006954 9.77 IL1B MEFV NLRP3 NOD1 TNF
10 cellular response to organic cyclic compound GO:0071407 9.76 IL1B NOD2 TNF
11 protein oligomerization GO:0051259 9.75 NLRP3 NOD1 NOD2
12 defense response GO:0006952 9.73 NLRP3 NOD1 NOD2 TNF
13 positive regulation of tumor necrosis factor production GO:0032760 9.7 NOD1 NOD2
14 positive regulation of nitric oxide biosynthetic process GO:0045429 9.7 IL1B TNF
15 positive regulation of interferon-gamma production GO:0032729 9.7 IL1B TNF
16 JNK cascade GO:0007254 9.7 NOD1 NOD2 TNF
17 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.69 IL1B TNF
18 protein kinase B signaling GO:0043491 9.69 IL1B TNF
19 lipopolysaccharide-mediated signaling pathway GO:0031663 9.68 IL1B TNF
20 positive regulation of phagocytosis GO:0050766 9.68 IL1B TNF
21 positive regulation of interleukin-1 beta secretion GO:0050718 9.68 NLRP3 NOD2
22 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.67 NOD1 NOD2
23 positive regulation of NF-kappaB import into nucleus GO:0042346 9.67 IL1B TNF
24 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.67 NLRP3 NOD1 TNF
25 positive regulation of stress-activated MAPK cascade GO:0032874 9.66 NOD1 NOD2
26 negative regulation of lipid catabolic process GO:0050995 9.66 IL1B TNF
27 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.65 IL1B TNF
28 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.65 IL1B TNF
29 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.64 IL1B TNF
30 positive regulation of interleukin-1 beta production GO:0032731 9.63 NOD1 NOD2
31 positive regulation of chemokine biosynthetic process GO:0045080 9.63 IL1B TNF
32 positive regulation of interleukin-8 production GO:0032757 9.63 IL1B NOD2 TNF
33 detection of bacterium GO:0016045 9.62 NOD1 NOD2
34 activation of MAPK activity GO:0000187 9.62 IL1B NOD1 NOD2 TNF
35 regulation of establishment of endothelial barrier GO:1903140 9.61 IL1B TNF
36 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.61 NOD1 NOD2
37 positive regulation of type 2 immune response GO:0002830 9.59 NLRP3 NOD2
38 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.58 NOD1 NOD2 TNF
39 cellular response to muramyl dipeptide GO:0071225 9.57 NOD1 NOD2
40 positive regulation of fever generation GO:0031622 9.56 IL1B TNF
41 positive regulation of JNK cascade GO:0046330 9.56 IL1B NOD1 NOD2 TNF
42 sequestering of triglyceride GO:0030730 9.55 IL1B TNF
43 interleukin-1 beta production GO:0032611 9.54 IL1B NLRP3
44 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.51 IL1B TNF
45 positive regulation of interleukin-6 production GO:0032755 9.46 IL1B NOD1 NOD2 TNF
46 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.35 IL1B NLRP3 NOD1 NOD2 TNF
47 detection of biotic stimulus GO:0009595 8.8 NLRP3 NOD1 NOD2

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.26 MVK NLRP3 NOD1 TNF
2 CARD domain binding GO:0050700 9.16 NOD1 NOD2
3 peptidoglycan binding GO:0042834 8.8 NLRP3 NOD1 NOD2

Sources for Blau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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