BLAUS
MCID: BLS001
MIFTS: 57

Blau Syndrome (BLAUS) malady

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

Aliases & Classifications for Blau Syndrome

Aliases & Descriptions for Blau Syndrome:

Name: Blau Syndrome 54 12 50 24 25 66 13 52 14
Arthrocutaneouveal Granulomatosis 12 50 25 66
Jabs Syndrome 12 50 66
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 50 25
Familial Juvenile Systemic Granulomatosis 25 66
Sarcoidosis, Early-Onset 66 69
Blaus 66 29
Acug 50 66
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 66
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 66
Early-Onset Sarcoidosis 25
Eos 66

Characteristics:

HPO:

32
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 186580
Disease Ontology 12 DOID:0050678
NCIt 47 C116794
MedGen 40 C1861303

Summaries for Blau Syndrome

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

MalaCards based summary : Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to sarcoidosis, early-onset and neuropathy, and has symptoms including arthralgia, dyspnea and fever. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are Toll-Like receptor Signaling Pathways and Th17 cell differentiation. The drugs Defibrotide and Platelet Aggregation Inhibitors 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.

UniProtKB/Swiss-Prot : 66 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 : 71 \'Blau Syndrome\' is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes,... more...

Description from OMIM: 186580

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 127)
id Related Disease Score Top Affiliating Genes
1 sarcoidosis, early-onset 32.3 NOD1 NOD2
2 neuropathy 29.8 IL1B TNF
3 craniolenticulosutural dysplasia 11.5
4 eosinophilia, familial 11.1
5 sarcoidosis 1 11.0
6 phenylketonuria 10.8
7 aural atresia, multiple congenital anomalies, and mental retardation 10.8
8 dermatosis papulosa nigra 10.2 NOD2 TNF
9 amyotrophic lateral sclerosis type 5 10.2 NOD2 TNF
10 female reproductive system disease 10.2 NOD2 TNF
11 intussusception 10.2 IL1B TNF
12 leptospirosis 10.2 NOD2 TNF
13 stocco dos santos syndrome 10.2 IL1B TNF
14 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 10.2 IL1B TNF
15 twin-to-twin transfusion syndrome 10.2 IL1B TNF
16 anal paget's disease 10.2 IL1B TNF
17 multiple sulfatase deficiency 10.2 NOD1 NOD2
18 cataract 10.2 IL1B TNF
19 x inactivation, familial skewed, 2 10.2 NOD1 NOD2
20 hepatic encephalopathy 10.2 IL1B TNF
21 functional gastric disease 10.2 NOD2 TNF
22 bipolar i disorder 10.2 IL1B TNF
23 human immunodeficiency virus infectious disease 10.2 IL1B TNF
24 cerebellar disease 10.2 IL1B TNF
25 tinea capitis 10.2 IL1B TNF
26 measles 10.2 IL1B TNF
27 acute myeloid leukemia with recurrent genetic anomaly 10.2 NOD2 TNF
28 dextrocardia 10.2 IL1B TNF
29 hypoparathyroidism-retardation-dysmorphism syndrome 10.2 IL1B TNF
30 gastroduodenal crohn's disease 10.2 IL1B TNF
31 childhood endodermal sinus tumor 10.2 IL1B TNF
32 steroid dehydrogenase deficiency dental anomalies 10.2 IL1B TNF
33 crohn's colitis 10.2 NOD2 TNF
34 mikulicz disease 10.2 IL1B TNF
35 acquired thrombocytopenia 10.2 IL1B TNF
36 rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies 10.2 IL1B TNF
37 ectodermal dysplasia bartalos type 10.2 IL1B TNF
38 mineral metabolism disease 10.2 IL1B TNF
39 migraine with aura 10.2 IL1B TNF
40 rickettsialpox 10.2 IL1B TNF
41 autosomal recessive type iv ehlers-danlos syndrome 10.2 IL1B TNF
42 bladder signet ring cell adenocarcinoma 10.2 IL1B TNF
43 keratoconus 10.1 IL1B TNF
44 motility-related diarrhea 10.1 IL1B TNF
45 splenic artery aneurysm 10.1 IL1B TNF
46 urticaria 10.1 IL1B TNF
47 wound botulism 10.1 IL1B TNF
48 mycoplasmal pneumonia 10.1 NLRP3 TNF
49 inappropriate adh syndrome 10.1 IL1B TNF
50 amelanotic melanoma 10.1 IL1B NLRP3

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



Diseases related to Blau Syndrome

Symptoms & Phenotypes for Blau Syndrome

Symptoms by clinical synopsis from OMIM:

186580

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 arthralgia 32 HP:0002829
2 dyspnea 32 HP:0002094
3 fever 32 HP:0001945
4 photophobia 32 HP:0000613
5 joint swelling 32 HP:0001386
6 dry skin 32 HP:0000958
7 hypertension 32 HP:0000822
8 facial palsy 32 HP:0010628
9 cataract 32 HP:0000518
10 arthritis 32 HP:0001369
11 splenomegaly 32 HP:0001744
12 ichthyosis 32 HP:0008064
13 nephropathy 32 HP:0000112
14 retinopathy 32 HP:0000488
15 anemia 32 HP:0001903
16 limitation of joint mobility 32 HP:0001376
17 skin ulcer 32 HP:0200042
18 abnormality of the retinal vasculature 32 HP:0008046
19 keratitis 32 HP:0000491
20 glaucoma 32 HP:0000501
21 visual loss 32 HP:0000572
22 xerostomia 32 HP:0000217
23 erythema 32 HP:0010783
24 pericarditis 32 HP:0001701
25 skin rash 32 HP:0000988
26 abnormality of the choroid 32 HP:0000610
27 eczema 32 HP:0000964
28 papule 32 HP:0200034
29 camptodactyly of finger 32 HP:0100490
30 flexion contracture of toe 32 HP:0005830
31 lymphadenopathy 32 HP:0002716
32 abnormality of the liver 32 HP:0001392
33 uveitis 32 HP:0000554
34 retrobulbar optic neuritis 32 HP:0100654
35 erythema nodosum 32 HP:0012219
36 hyperpigmentation of the skin 32 HP:0000953
37 stage 5 chronic kidney disease 32 HP:0003774
38 abnormality of the salivary glands 32 HP:0010286
39 abnormality of the cranial nerves 32 HP:0001291
40 iritis 32 HP:0001101
41 abnormality of the ear 32 HP:0000598
42 aortic aneurysm 32 HP:0004942
43 cystoid macular edema 32 HP:0011505
44 large vessel vasculitis 32 HP:0005310
45 iridocyclitis 32 HP:0001094
46 polyarticular arthritis 32 HP:0005764
47 synovitis 32 HP:0100769
48 posterior uveitis 32 HP:0012123
49 band keratopathy 32 HP:0000585
50 pulmonary arterial hypertension 32 HP:0002092

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 NOD1 NOD2 TNF IL1B NLRP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 NOD1 NOD2 TNF IL1B NLRP3

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 NLRP3 NOD2 TNF IL1B MEFV

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 Platelet Aggregation Inhibitors Phase 3
3 Fibrinolytic Agents Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
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

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

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 85)
id Title Authors Year
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

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

66 (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 rs5743293 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 26)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 IL1B MEFV NLRP3 NOD1 NOD2 TNF
2
Show member pathways
12.34 IL1B NOD2 TNF
3 12.26 IL1B NOD1 TNF
4
Show member pathways
11.96 IL1B NOD1 NOD2
5 11.83 IL1B NOD2 TNF
6
Show member pathways
11.62 MEFV NLRP3 NOD1 NOD2
7 11.53 IL1B NOD2 TNF
8 11.37 IL1B TNF
9 11.31 IL1B TNF
10 11.3 IL1B TNF
11 11.29 IL1B TNF
12 11.28 IL1B TNF
13 11.24 IL1B TNF
14
Show member pathways
11.21 IL1B TNF
15 11.14 NOD1 NOD2
16 11.14 IL1B NLRP3 NOD1 TNF
17 11.1 IL1B TNF
18 11.09 IL1B TNF
19 11.04 IL1B TNF
20 11.02 IL1B TNF
21 10.99 IL1B TNF
22 10.89 IL1B NLRP3
23 10.82 NOD2 TNF
24 10.78 IL1B TNF
25 10.63 IL1B MEFV NLRP3 NOD1 NOD2
26 10.57 IL1B TNF

GO Terms for Blau Syndrome

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

(show all 48)
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 9.84 NOD1 NOD2 TNF
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.78 NLRP3 NOD1 TNF
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 IL1B NOD1 NOD2 TNF
8 negative regulation of inflammatory response GO:0050728 9.77 MEFV MVK NLRP3
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 9.73 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 interferon-gamma production GO:0032729 9.7 IL1B TNF
15 positive regulation of nitric oxide biosynthetic process GO:0045429 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 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.68 NOD1 NOD2
22 positive regulation of interleukin-1 beta secretion GO:0050718 9.67 NLRP3 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 chemokine biosynthetic process GO:0045080 9.63 IL1B TNF
31 positive regulation of interleukin-1 beta production GO:0032731 9.63 NOD1 NOD2
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 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.62 NOD1 NOD2
35 activation of MAPK activity GO:0000187 9.62 IL1B NOD1 NOD2 TNF
36 regulation of establishment of endothelial barrier GO:1903140 9.61 IL1B TNF
37 positive regulation of type 2 immune response GO:0002830 9.59 NLRP3 NOD2
38 cellular response to muramyl dipeptide GO:0071225 9.58 NOD1 NOD2
39 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.58 NOD1 NOD2 TNF
40 positive regulation of fever generation GO:0031622 9.57 IL1B TNF
41 positive regulation of JNK cascade GO:0046330 9.56 IL1B NOD1 NOD2 TNF
42 interleukin-1 beta production GO:0032611 9.55 IL1B NLRP3
43 sequestering of triglyceride GO:0030730 9.54 IL1B TNF
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
48 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10 IL1B NLRP3 NOD2 TNF

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 9.46 MVK NLRP3 NOD1 TNF
2 CARD domain binding GO:0050700 8.96 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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