BLAUS
MCID: BLS001
MIFTS: 68

Blau Syndrome (BLAUS)

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 57 12 20 43 58 73 36 29 13 54 6 15
Arthrocutaneouveal Granulomatosis 57 12 20 43 73
Sarcoidosis, Early-Onset 57 73 36 39 71
Jabs Syndrome 57 12 20 73
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 57 20 43
Blaus 57 12 73
Acug 57 20 73
Granulomatosis, Familial Juvenile Systemic 57 20
Familial Juvenile Systemic Granulomatosis 43 73
Granulomatosis, Familial, Blau Type 57 20
Eos 57 73
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 73
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 71
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 20
Arthrocutaneouveal Granulomatosis; Acug 57
Familial Granulomatosis, Blau Type 43
Pediatric Granulomatous Arthritis 43
Familial Granulomatosis Blau Type 73
Sarcoidosis, Early-Onset; Eos 57
Early Onset Sarcoidosis 20
Early-Onset Sarcoidosis 43
Syndrome, Blau 39

Characteristics:

Orphanet epidemiological data:

58
blau syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Denmark); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Summaries for Blau Syndrome

MedlinePlus Genetics : 43 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs.Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of the joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can involve additional joints and restrict movement by decreasing the range of motion in many joints. In people with Blau syndrome, the tendons as well as the joints can be inflamed, causing tenosynovitis.Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). While individuals with Blau syndrome may have normal vision, inflammation of any of these structures can lead to severe vision impairment or blindness.Some individuals with Blau syndrome develop kidney disease (nephritis) due to inflammation. They may also have deposits of calcium in the kidneys (nephrocalcinosis) and often develop chronic kidney failure. Inflammation of blood vessels (vasculitis) can cause scarring and tissue death in the vessels and impedes blood flow to tissues and organs.Less commonly, Blau syndrome can affect other parts of the body, including the liver, spleen, lymph nodes, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can impair their function and cause life-threatening complications. Rarely, affected individuals have disturbances in nerve function (neuropathy), episodes of fever, or high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).

MalaCards based summary : Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to uveitis and panuveitis. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Innate Immune System. The drugs Hematinics and Epoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and kidney, and related phenotypes are arthralgia and joint swelling

Disease Ontology : 12 A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in heterozygous mutations in the NOD2 gene.

GARD : 20 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).

OMIM® : 57 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) (Updated 05-Mar-2021)

KEGG : 36 Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional feature of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years.

UniProtKB/Swiss-Prot : 73 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 : 74 Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and... 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 584)
# Related Disease Score Top Affiliating Genes
1 uveitis 31.2 TNF NOD2 IL4 IL1B IL10
2 panuveitis 31.1 TNF NOD2 IL10
3 multifocal choroiditis 30.9 TNF IL10
4 iridocyclitis 30.7 VEGFA TNF IL1B IL10
5 tenosynovitis 30.7 TNF NOD2 IL1B
6 juvenile rheumatoid arthritis 30.6 TNF S100A12 IL1B IL10
7 crohn's colitis 30.5 TNF NOD2 IL1B
8 choroiditis 30.5 VEGFA TNF NOD2 IL10
9 iritis 30.4 VEGFA TNF NOD2 IL10
10 erythema nodosum 30.3 TNF NOD2 IL1B IL10
11 tendinitis 30.1 VEGFA TNF IL1B
12 macular retinal edema 30.1 VEGFA TNF IL1B
13 takayasu arteritis 30.1 TNF S100A12 IL10
14 chronic granulomatous disease 30.0 TNF IL1RAPL2 IL1B CSF3
15 measles 30.0 TNF TLR4 TLR2 IL1B
16 retinal vascular disease 30.0 VEGFA TNF IL1B
17 pericarditis 30.0 TNF MEFV IL1B
18 interstitial lung disease 30.0 TNF IL4 IL1B IL10
19 dermatitis 29.9 TNF TLR2 NOD2 IL4 IL1B IL10
20 cerebral palsy 29.9 TNF TLR4 IL4 IL1B IL10 CSF3
21 systemic onset juvenile idiopathic arthritis 29.8 TNF MEFV
22 chorioretinitis 29.8 VEGFA TNF NOD2 IL1B IL10
23 arthropathy 29.8 TNF NLRP3 IL1RAPL2 IL1B
24 demyelinating disease 29.7 TNF IL4 IL1B IL10 CSF1
25 autoimmune disease 29.7 TNF IL4 IL1RAPL2 IL1B IL10
26 skin disease 29.7 TNF TLR2 IL4 IL1B IL10
27 toxoplasmosis 29.7 TNF TLR4 TLR2 NOD2 IL4 IL1B
28 chronic kidney disease 29.7 VEGFA TNF TLR4 IL1B IL10
29 inflammatory bowel disease 1 29.6 TNF RIPK2 NOD2 NOD1
30 toxic shock syndrome 29.6 TNF TLR4 TLR2 IL4 IL1B IL10
31 eye disease 29.6 VEGFA TNF IL4 IL1B IL10
32 liver cirrhosis 29.6 VEGFA TNF TLR4 TLR2 IL1B IL10
33 brucellosis 29.5 TNF TLR4 MEFV IL4 IL10
34 wells syndrome 29.5 NLRP3 MEFV IL1RAPL2 IL1B
35 pre-eclampsia 29.5 VEGFA TNF TLR4 IL4 IL1B IL10
36 exanthem 29.4 VEGFA TNF NLRP3 MVK MEFV IL1B
37 bacterial pneumonia 29.4 TNF TLR4 TLR2 S100A12 IL1B IL10
38 keratitis, hereditary 29.2 VEGFA TNF TLR4 TLR2 NLRP3 IL1B
39 leukemia, acute myeloid 29.2 VEGFA TNF IL4 IL1B IL10 CSF3
40 neutropenia 29.2 TNF TLR4 IL4 IL1B IL10 CSF3
41 pyoderma 29.2 TNF NOD2 NLRP3 MEFV IL1B CSF3
42 bone inflammation disease 29.0 VEGFA TNF TLR4 TLR2 NLRP3 IL4
43 pyoderma gangrenosum 29.0 TNF NOD2 NLRP3 MVK MEFV CSF3
44 psoriatic arthritis 28.8 VEGFA TNF TLR2 S100A12 NOD2 IL4
45 salmonellosis 28.7 TNF TLR4 TLR2 NOD2 NOD1 NLRP3
46 asthma 28.5 TNF TLR4 TLR2 NOD2 NOD1 NLRP3
47 arthritis 28.4 VEGFA TNF TLR4 TLR2 S100A12 NOD2
48 crohn's disease 28.3 TNF TLR4 TLR2 S100A12 RIPK2 NOD2
49 familial mediterranean fever 28.2 TNF TLR4 TLR2 S100A12 NOD2 NLRP3
50 muckle-wells syndrome 28.1 TNF NOD2 NOD1 NLRP3 NLRC4 MVK

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



Diseases related to Blau Syndrome

Symptoms & Phenotypes for Blau Syndrome

Human phenotypes related to Blau Syndrome:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
3 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
4 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
5 keratitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000491
6 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
7 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
8 synovitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100769
9 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
10 posterior uveitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012123
11 polyarticular arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005764
12 iridocyclitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001094
13 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
14 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
15 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
16 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
17 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
18 camptodactyly of finger 58 31 very rare (1%) Frequent (79-30%) HP:0100490
19 erythema nodosum 58 31 very rare (1%) Frequent (79-30%) HP:0012219
20 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
21 hypertension 58 31 very rare (1%) Occasional (29-5%) HP:0000822
22 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
23 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
24 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
25 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
26 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
27 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
28 abnormal retinal vascular morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008046
29 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
30 pericarditis 58 31 very rare (1%) Occasional (29-5%) HP:0001701
31 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
32 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
33 retrobulbar optic neuritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100654
34 abnormal choroid morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000610
35 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
36 aortic aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004942
37 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
38 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
39 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
40 large vessel vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005310
41 clear cell renal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006770
42 abnormal salivary gland morphology 31 occasional (7.5%) HP:0010286
43 arthritis 31 very rare (1%) HP:0001369
44 uveitis 31 very rare (1%) HP:0000554
45 iritis 31 very rare (1%) HP:0001101
46 intermittent generalized erythematous papular rash 31 very rare (1%) HP:0007432
47 abnormal cranial nerve morphology 58 31 Occasional (29-5%) HP:0001291
48 eczema 31 HP:0000964
49 flexion contracture of toe 31 HP:0005830
50 abnormality of the salivary glands 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
glaucoma
uveitis
iritis
cystoid macular edema
band keratopathy
more
Skeletal Hands:
camptodactyly
flexion contractures of the fingers

Skeletal Feet:
flexion contractures of the toes

Skeletal:
joint swelling
tendonitis
joint contractures
granulomatous synovitis
granulomatous arthritis
more
Skin Nails Hair Skin:
intermittent generalized erythematous papular rash
granulomatous dermatitis
skin ulceration
skin biopsy shows noncaseating granulomas
cysts over wrist and ankle joints

Clinical features from OMIM®:

186580 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.65 NOD2 RIPK2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.65 IL10 IL1B NLRC4 NLRP3 NOD1 NOD2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.36 IL10 IL1B NLRP3 NOD1 TNF
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.36 IL10 IL1B NLRP3 NOD1 NOD2 TNF

MGI Mouse Phenotypes related to Blau Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.2 CSF1 CSF3 IL10 IL1B IL4 MEFV
2 cellular MP:0005384 10.14 CSF1 IL10 IL4 MEFV NLRC4 NLRP3
3 immune system MP:0005387 10.13 CSF1 CSF3 IL10 IL1B IL4 MEFV
4 digestive/alimentary MP:0005381 10.02 IL10 IL4 NLRP3 NOD2 RIPK2 TLR2
5 integument MP:0010771 9.9 CSF1 CSF3 IL10 IL1B IL4 MEFV
6 liver/biliary system MP:0005370 9.61 CSF1 IL10 IL4 MEFV NLRP3 TLR2
7 skeleton MP:0005390 9.4 CSF1 IL10 IL1B IL4 MEFV NLRC4

Drugs & Therapeutics for Blau Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hematinics Phase 3
2 Epoetin alfa Phase 3 113427-24-0
3
Heparin Approved, Investigational Phase 1 9005-49-6 772 9812414
4
Dalteparin Approved Phase 1 9005-49-6
5
Enoxaparin Approved Phase 1 9005-49-6 772
6
Tinzaparin Approved Phase 1 9041-08-1, 9005-49-6 25244225
7 Calcium, Dietary Phase 1
8 Fibrinolytic Agents Phase 1
9 Anticoagulants Phase 1
10 calcium heparin Phase 1
11 Heparin, Low-Molecular-Weight Phase 1
12
Calcium Nutraceutical Phase 1 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Clinical Efficacy and Immunogenicity of Drug Eritromax® at Blau Farmacêutica S.A. Compared to Eprex®, Produced by Janssen-Cilag Laboratory in Participants With Secondary Anemia to Chronic Kidney Disease. Terminated NCT01695759 Phase 3 Epoetin alpha;Eprex
2 PHARMACODYNAMICS ASSESSMENT PRODUCT HEPARIN SODIUM (INTRAVENOUSLY) OF THE SWINE 5.000UI/ML OF BLAU FARMACÊUTICA S/A IN HEALTHY SUBJECTS IN COMPARISON OF SODIUM HEPARIN APP PHARMACEUTICALS Unknown status NCT01651923 Phase 1 Heparin
3 PHARMACODYNAMICS ASSESSMENT PRODUCT HEPARIN SODIUM (SUBCUTANEOUSLY) OF THE SWINE 5.000UI/ML OF BLAU FARMACÊUTICA S/A IN HEALTHY SUBJECTS IN COMPARISON OF SODIUM HEPARIN APP PHARMACEUTICALS Unknown status NCT01652638 Phase 1 Heparin
4 Pharmacodynamics Study of Enoxalow, Produced by Blau Farmacêutica S/A, Compared to Clexane, Produced by Sanofi-Aventis Farmacêutica Ltda, in Healthy Subjects After Subcutaneous Administration. Unknown status NCT01692158 Phase 1 Heparin, Low-Molecular-Weight
5 Phase 1 Assessment of Pharmacokinetics and Pharmacodynamics of Two Epoetin Alfa, Human Recombinant Epoetin (Blau Farmacêutica) and Eprex (Janssen-Cilag), After Multiple Dose, Intravenous Administration in Healthy Subjects: a Randomized Parallel Study. Unknown status NCT01685359 Phase 1 Epoetin Alfa
6 Phase 1 Assessment of Pharmacokinetics and Pharmacodynamics of Two Epoetin Alfa, Human Recombinant Epoetin (Blau Farmacêutica) and Eprex (Janssen-Cilag), After Single Dose, Intravenous Administration in Healthy Subjects: a Randomized Crossover Study. Unknown status NCT01685333 Phase 1 Epoetin Alfa
7 Phase 1 Assessment of Pharmacokinetics and Pharmacodynamics of Two Epoetin Alfa, Eritromax (Blau Farmacêutica) and Eprex (Janssen-Cilag), After Multiple Dose, Intravenous Administration in Healthy Subjects: a Randomized Parallel Study. Unknown status NCT01664221 Phase 1 Epoetin Alfa
8 Phase 1 Assessment of Pharmacokinetics and Pharmacodynamics of Two Epoetin Alfa, Eritromax (Blau Farmacêutica) and Eprex (Janssen-Cilag), After Single Dose, Intravenous Administration in Healthy Subjects: a Randomized Study. Unknown status NCT01664195 Phase 1 Epoetin Alfa
9 Pharmacodynamics Study of Enoxalow, Produced by Blau Farmacêutica S/A, Compared to Clexane, Produced by Sanofi-Aventis Farmacêutica Ltda, in Healthy Subjects After Intravenous Administration. Completed NCT01692171 Phase 1 Heparin, Low-Molecular-Weight

Search NIH Clinical Center for Blau Syndrome

Genetic Tests for Blau Syndrome

Genetic tests related to Blau Syndrome:

# Genetic test Affiliating Genes
1 Blau Syndrome 29 NOD2

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

40
Eye, Skin, Kidney, Heart, Retina, Spleen, Liver

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(show top 50) (show all 276)
# Title Authors PMID Year
1
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 6 57 54 61
19467619 2010
2
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 61 54 6 57
15459013 2005
3
CARD15 mutations in Blau syndrome. 57 6 61 54
11528384 2001
4
Leg ulcers: a new symptom of Blau syndrome? 6 57 61
18955195 2008
5
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. 6 57
15086578 2004
6
Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis. 6 57
9124059 1997
7
Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. 57 6
7825454 1994
8
A new CARD15 mutation in Blau syndrome. 61 54 6
15812565 2005
9
Blau syndrome: a new kindred. 61 57
12894082 2003
10
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. 61 57
9508240 1998
11
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. 61 57
8900239 1996
12
Liver involvement in familial granulomatous arthritis (Blau syndrome). 61 57
8882056 1996
13
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. 57 61
8394645 1993
14
NOD2-associated autoinflammatory disease: a large cohort study. 6
26070941 2015
15
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 6
23102769 2013
16
A new category of autoinflammatory disease associated with NOD2 gene mutations. 6
21914217 2011
17
Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations. 57
17698784 2007
18
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 6
15024686 2004
19
Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. 6
14765395 2004
20
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. 6
12577202 2003
21
Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. 57
12470760 2002
22
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. 6
11875755 2002
23
Sarcoidosis: a pediatric perspective. 57
9864645 1998
24
Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. 57
2391595 1990
25
Familial granulomatous arthritis, iritis, and rash. 57
4056967 1985
26
Familial granulomatous synovitis, uveitis, and cranial neuropathies. 57
3993660 1985
27
Familial granulomatous arteritis with polyarthritis of juvenile onset. 57
7053492 1982
28
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. 54 61
20052476 2010
29
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. 61 54
20084402 2010
30
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. 54 61
20199415 2010
31
Autoinflammatory syndromes behind the scenes of recurrent fevers in children. 61 54
19644432 2009
32
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. 54 61
19169908 2009
33
Nucleotide oligomerization domain-2 (NOD2)-induced uveitis: dependence on IFN-gamma. 54 61
19098321 2009
34
[Periodic fever syndrome/autoinflammatory syndrome]. 54 61
19255765 2009
35
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. 61 54
19180500 2009
36
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. 54 61
19822951 2009
37
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. 61 54
19116920 2009
38
Mutation screening of the CARD15 gene in sarcoidosis. 54 61
18384487 2008
39
Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis. 61 54
20298285 2007
40
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. 54 61
17916199 2007
41
NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. 54 61
17968944 2007
42
Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene. 61 54
17719742 2007
43
The Nodosome: Nod1 and Nod2 control bacterial infections and inflammation. 61 54
17690884 2007
44
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. 61 54
17393391 2007
45
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. 61 54
17372104 2007
46
NOD2/CARD15 disease associations other than Crohn's disease. 54 61
17206682 2007
47
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. 61 54
17096091 2007
48
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. 61 54
17207093 2006
49
Pediatric granulomatous arthritis: an international registry. 61 54
17009307 2006
50
Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes. 54 61
16935475 2006

Variations for Blau Syndrome

ClinVar genetic disease variations for Blau Syndrome:

6 (show top 50) (show all 440)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOD2 NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) SNV association 4693 rs2066844 16:50745926-50745926 16:50712015-50712015
2 NOD2 NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) Duplication association 4691 rs2066847 16:50763778-50763779 16:50729867-50729868
3 NOD2 NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) SNV association 97856 rs104895467 16:50750810-50750810 16:50716899-50716899
4 NOD2 NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter) SNV Pathogenic 973657 16:50745949-50745949 16:50712038-50712038
5 NOD2 NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV Pathogenic 4694 rs104895461 16:50744823-50744823 16:50710912-50710912
6 NOD2 NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) SNV Pathogenic 4695 rs104895460 16:50745227-50745227 16:50711316-50711316
7 NOD2 NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV Pathogenic 4696 rs104895462 16:50744822-50744822 16:50710911-50710911
8 NOD2 NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV Pathogenic 4701 rs104895477 16:50744969-50744969 16:50711058-50711058
9 NOD2 NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) SNV Pathogenic 97832 rs104895478 16:50745306-50745306 16:50711395-50711395
10 NOD2 NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) SNV Pathogenic 4698 rs104895472 16:50745309-50745309 16:50711398-50711398
11 NOD2 NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) SNV Pathogenic 4699 rs104895476 16:50744968-50744968 16:50711057-50711057
12 NOD2 NM_001370466.1(NOD2):c.2717+158C>T SNV Pathogenic 4697 rs5743289 16:50756774-50756774 16:50722863-50722863
13 NOD2 NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV Pathogenic 4701 rs104895477 16:50744969-50744969 16:50711058-50711058
14 NOD2 NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV Pathogenic 4696 rs104895462 16:50744822-50744822 16:50710911-50710911
15 NOD2 NM_001370466.1(NOD2):c.1951del (p.Leu651fs) Deletion Pathogenic 638429 rs1201050964 16:50745853-50745853 16:50711942-50711942
16 NOD2 NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) SNV Pathogenic 97834 rs104895473 16:50745360-50745360 16:50711449-50711449
17 NOD2 NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV Pathogenic 4694 rs104895461 16:50744823-50744823 16:50710912-50710912
18 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV risk factor 4692 rs2066845 16:50756540-50756540 16:50722629-50722629
19 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV Conflicting interpretations of pathogenicity 4692 rs2066845 16:50756540-50756540 16:50722629-50722629
20 NOD2 NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) Duplication Conflicting interpretations of pathogenicity 4691 rs2066847 16:50763778-50763779 16:50729867-50729868
21 NOD2 NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) SNV Uncertain significance 449632 rs540122692 16:50745362-50745362 16:50711451-50711451
22 NOD2 NM_001370466.1(NOD2):c.193G>T (p.Val65Phe) SNV Uncertain significance 660017 rs187264529 16:50733599-50733599 16:50699688-50699688
23 NOD2 NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) SNV Uncertain significance 849868 16:50744519-50744519 16:50710608-50710608
24 NOD2 NM_001370466.1(NOD2):c.1923del (p.His642fs) Deletion Uncertain significance 863734 16:50745826-50745826 16:50711915-50711915
25 NOD2 NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) Deletion Uncertain significance 859056 16:50745723-50745741 16:50711812-50711830
26 NOD2 NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) SNV Uncertain significance 4700 rs104895438 16:50745656-50745656 16:50711745-50711745
27 NOD2 NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) SNV Uncertain significance 779017 rs114664276 16:50745873-50745873 16:50711962-50711962
28 NOD2 NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) SNV Uncertain significance 992540 16:50746019-50746019 16:50712108-50712108
29 NOD2 NM_001370466.1(NOD2):c.*609C>T SNV Uncertain significance 887669 16:50766339-50766339 16:50732428-50732428
30 NOD2 NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) SNV Uncertain significance 887101 16:50733841-50733841 16:50699930-50699930
31 NOD2 NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) SNV Uncertain significance 319424 rs201586544 16:50733465-50733465 16:50699554-50699554
32 NOD2 NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro) SNV Uncertain significance 887606 16:50759437-50759437 16:50725526-50725526
33 NOD2 NM_001370466.1(NOD2):c.789C>T (p.Asp263=) SNV Uncertain significance 765940 rs749180535 16:50744692-50744692 16:50710781-50710781
34 NOD2 NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser) SNV Uncertain significance 888495 16:50745413-50745413 16:50711502-50711502
35 NOD2 NM_001370466.1(NOD2):c.2393A>G (p.Asn798Ser) SNV Uncertain significance 933842 16:50750509-50750509 16:50716598-50716598
36 NOD2 NM_001370466.1(NOD2):c.845T>C (p.Leu282Pro) SNV Uncertain significance 934684 16:50744748-50744748 16:50710837-50710837
37 NOD2 NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp) SNV Uncertain significance 934890 16:50733414-50733414 16:50699503-50699503
38 NOD2 NM_001370466.1(NOD2):c.659G>T (p.Cys220Phe) SNV Uncertain significance 936769 16:50744562-50744562 16:50710651-50710651
39 NOD2 NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp) SNV Uncertain significance 97867 rs104895453 16:50756589-50756589 16:50722678-50722678
40 NOD2 NM_001370466.1(NOD2):c.2605C>T (p.Arg869Ter) SNV Uncertain significance 938415 16:50753891-50753891 16:50719980-50719980
41 NOD2 NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter) SNV Uncertain significance 939565 16:50750523-50750523 16:50716612-50716612
42 NOD2 NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly) SNV Uncertain significance 941753 16:50745897-50745897 16:50711986-50711986
43 NOD2 NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln) SNV Uncertain significance 944793 16:50744859-50744859 16:50710948-50710948
44 NOD2 NM_001370466.1(NOD2):c.821C>T (p.Ala274Val) SNV Uncertain significance 97884 rs104895426 16:50744724-50744724 16:50710813-50710813
45 NOD2 NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly) SNV Uncertain significance 945786 16:50746074-50746074 16:50712163-50712163
46 NOD2 NM_001370466.1(NOD2):c.1616C>T (p.Ser539Leu) SNV Uncertain significance 946416 16:50745519-50745519 16:50711608-50711608
47 NOD2 NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp) SNV Uncertain significance 947025 16:50745282-50745282 16:50711371-50711371
48 NOD2 NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg) SNV Uncertain significance 947472 16:50750559-50750559 16:50716648-50716648
49 NOD2 NM_001370466.1(NOD2):c.781del (p.Leu261fs) Deletion Uncertain significance 947507 16:50744683-50744683 16:50710772-50710772
50 NOD2 NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu) SNV Uncertain significance 948438 16:50745432-50745432 16:50711521-50711521

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

73 (show all 11)
# 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

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 KEGG:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

(show top 50) (show all 59)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 VEGFA TNF TLR4 TLR2 S100A12 RIPK2
2
Show member pathways
13.45 TNF TLR4 TLR2 IL4 IL1B IL10
3
Show member pathways
13.42 VEGFA TNF RIPK2 NOD2 NOD1 IL4
4
Show member pathways
13.04 VEGFA TNF TLR4 TLR2 IL4 CSF3
5
Show member pathways
12.86 VEGFA TNF IL4 IL1B IL10
6
Show member pathways
12.83 TNF TLR4 TLR2 NLRP3 IL1B
7
Show member pathways
12.8 TNF TLR4 TLR2 RIPK2 NOD1 NLRP3
8
Show member pathways
12.69 TNF TLR4 TLR2 RIPK2 NOD2 NOD1
9
Show member pathways
12.68 TNF TLR4 TLR2 RIPK2 IL4 IL1B
10
Show member pathways
12.67 TNF TLR4 TLR2 NOD2 IL4 IL1B
11 12.63 TNF TLR2 RIPK2 NOD1 IL4 IL1B
12
Show member pathways
12.59 S100A12 RIPK2 NOD2 NOD1 IL1B
13 12.47 TNF TLR4 RIPK2 NOD1 NLRP3 NLRC4
14
Show member pathways
12.4 TNF TLR2 IL4 IL1B CSF3
15
Show member pathways
12.36 TNF TLR4 TLR2 IL4 IL1B IL10
16
Show member pathways
12.35 TNF IL4 IL1B CSF1
17 12.33 VEGFA TNF TLR4 TLR2
18
Show member pathways
12.32 RIPK2 NOD2 NOD1 IL1B
19 12.28 TNF TLR4 TLR2 RIPK2 NOD2 IL1B
20
Show member pathways
12.26 TNF TLR4 TLR2 IL4 IL1B
21
Show member pathways
12.25 TNF NLRP3 IL1B IL10
22
Show member pathways
12.24 TNF TLR4 NLRP3 IL1B
23 12.22 VEGFA TNF TLR4 TLR2
24 12.21 VEGFA TNF IL1B IL10
25 12.1 TNF IL4 IL10 CSF3 CSF1
26 12.09 VEGFA TNF IL4 IL1B IL10
27 12.06 TNF TLR4 IL4 IL1B
28
Show member pathways
12.05 RIPK2 NOD2 NOD1 NLRP3 NLRC4 MEFV
29 12.05 TNF TLR4 NLRP3 NLRC4 MEFV IL1B
30 12.03 TNF NOD2 IL1B CSF1
31 12.03 TNF TLR4 TLR2 IL1B IL10
32 12.01 TNF IL4 IL1B CSF3 CSF1
33 11.94 VEGFA TNF TLR4 TLR2 IL1B CSF1
34
Show member pathways
11.93 TLR4 TLR2 IL4 IL1B
35 11.87 TNF IL4 IL1B IL10
36 11.87 TNF TLR4 RIPK2 NOD2 NOD1 NLRP3
37
Show member pathways
11.86 TNF TLR4 TLR2 IL1B IL10
38 11.82 TNF IL1B IL10 CSF1
39 11.79 TNF TLR4 NOD1 NLRP3 IL1B IL10
40 11.78 TNF TLR4 TLR2 IL4 IL10
41 11.75 TNF IL4 IL1B CSF3
42 11.71 TNF TLR4 TLR2 NLRC4 IL1B
43
Show member pathways
11.69 VEGFA TNF IL1B
44 11.62 TNF TLR4 RIPK2
45 11.6 TNF TLR4 TLR2 IL1B CSF1
46 11.56 IL1B CSF3 CSF1
47 11.5 TNF TLR4 TLR2 IL1B IL10 CSF3
48 11.47 TNF TLR4 IL1B IL10
49 11.44 RIPK2 NOD2 NOD1
50 11.44 TNF IL1B IL10

GO Terms for Blau Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 VEGFA TNF S100A12 NLRP3 IL4 IL1B
2 extracellular space GO:0005615 9.28 VEGFA TNF S100A12 IL4 IL1B IL10

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

(show top 50) (show all 91)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.35 VEGFA TLR4 TLR2 RIPK2 NOD1 NLRP3
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.26 VEGFA TNF TLR4 TLR2 RIPK2 NOD2
3 apoptotic process GO:0006915 10.23 TLR2 RIPK2 NOD1 NLRP3 NLRC4 IL1B
4 immune system process GO:0002376 10.21 TLR4 TLR2 S100A12 RIPK2 NOD2 NOD1
5 positive regulation of cell proliferation GO:0008284 10.19 VEGFA NOD2 IL4 IL1B CSF3 CSF1
6 positive regulation of gene expression GO:0010628 10.19 VEGFA TNF TLR4 TLR2 IL4 IL1B
7 immune response GO:0006955 10.19 TNF TLR4 TLR2 IL4 IL1B IL10
8 negative regulation of apoptotic process GO:0043066 10.16 VEGFA RIPK2 IL4 IL10 DPEP1
9 innate immune response GO:0045087 10.1 TLR4 TLR2 S100A12 RIPK2 NOD2 NOD1
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.08 VEGFA TNF TLR4 RIPK2 NOD2 NOD1
11 defense response to bacterium GO:0042742 10.08 TNF TLR4 S100A12 NOD2 NOD1 NLRC4
12 regulation of apoptotic process GO:0042981 10.07 RIPK2 NOD2 NOD1 NLRC4
13 response to lipopolysaccharide GO:0032496 10.07 TLR4 TLR2 NOD2 IL1B IL10
14 positive regulation of cell migration GO:0030335 10.06 VEGFA IL4 IL1B CSF1
15 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.06 TNF TLR4 S100A12 RIPK2 NOD2 NOD1
16 cytokine-mediated signaling pathway GO:0019221 10.06 VEGFA TNF IL4 IL1RAPL2 IL1B IL10
17 negative regulation of inflammatory response GO:0050728 10.04 NLRP3 MVK MEFV IL4 IL10
18 defense response GO:0006952 10.03 TNF NOD2 NOD1 NLRP3
19 positive regulation of DNA-binding transcription factor activity GO:0051091 10.01 TNF IL1B IL10 CSF3
20 defense response to Gram-positive bacterium GO:0050830 10.01 TNF TLR2 RIPK2 NOD2 NOD1
21 interleukin-1-mediated signaling pathway GO:0070498 10 RIPK2 NOD2 NOD1 IL1B
22 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 10 VEGFA RIPK2 NOD2 CSF3
23 positive regulation of inflammatory response GO:0050729 10 TNF TLR4 TLR2 S100A12 IL1B
24 activation of MAPK activity GO:0000187 10 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
25 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.99 VEGFA TNF RIPK2 CSF3
26 negative regulation of tumor necrosis factor production GO:0032720 9.99 TLR4 NOD2 IL4 IL10
27 positive regulation of tumor necrosis factor production GO:0032760 9.99 TLR4 TLR2 RIPK2 NOD2 NOD1
28 positive regulation of interferon-gamma production GO:0032729 9.98 TNF TLR4 RIPK2 IL1B
29 positive regulation of MAP kinase activity GO:0043406 9.97 VEGFA TNF S100A12 NOD2
30 JNK cascade GO:0007254 9.96 TNF RIPK2 NOD2 NOD1
31 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.95 VEGFA TNF CSF3
32 positive regulation of JNK cascade GO:0046330 9.95 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
33 negative regulation of interleukin-6 production GO:0032715 9.94 TNF TLR4 IL10
34 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.93 VEGFA TNF IL4
35 cellular response to organic cyclic compound GO:0071407 9.93 TNF NOD2 IL1B
36 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.93 VEGFA TNF DPEP1
37 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.93 TNF TLR4 RIPK2
38 positive regulation of interleukin-12 production GO:0032735 9.93 TLR4 TLR2 RIPK2 NOD2
39 positive regulation of chemokine production GO:0032722 9.92 TNF TLR4 TLR2 RIPK2
40 positive regulation of interleukin-10 production GO:0032733 9.92 TLR4 TLR2 NOD2 IL4
41 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.91 TNF NOD1 NLRP3
42 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.91 TNF TLR4 TLR2 NOD2 NOD1 IL1B
43 positive regulation of phagocytosis GO:0050766 9.9 TNF NOD2 IL1B
44 positive regulation of nitric oxide biosynthetic process GO:0045429 9.9 TNF TLR4 IL1B
45 negative regulation of interferon-gamma production GO:0032689 9.9 TLR4 NOD2 IL10
46 positive regulation of interferon-beta production GO:0032728 9.9 TLR4 TLR2 RIPK2
47 microglial cell activation GO:0001774 9.89 TNF TLR2 IL4
48 lipopolysaccharide-mediated signaling pathway GO:0031663 9.89 TNF TLR4 TLR2 RIPK2 IL1B
49 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.88 TNF TLR4 NOD2
50 positive regulation of stress-activated MAPK cascade GO:0032874 9.88 TLR4 RIPK2 NOD2 NOD1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 VEGFA TNF TLR4 TLR2 S100A12 RIPK2
2 identical protein binding GO:0042802 9.9 VEGFA TNF TLR4 TLR2 RIPK2 NOD1
3 growth factor activity GO:0008083 9.65 VEGFA IL4 IL10 CSF3 CSF1
4 NAD+ nucleotidase, cyclic ADP-ribose generating GO:0061809 9.61 TLR4 TLR2 IL1RAPL2
5 CARD domain binding GO:0050700 9.58 RIPK2 NOD2 NOD1
6 NAD(P)+ nucleosidase activity GO:0050135 9.54 TLR4 TLR2 IL1RAPL2
7 pattern recognition receptor activity GO:0038187 9.5 TLR2 NOD2 NOD1
8 caspase binding GO:0089720 9.49 RIPK2 NLRC4
9 lipopolysaccharide receptor activity GO:0001875 9.48 TLR4 TLR2
10 peptidoglycan binding GO:0042834 9.26 TLR2 NOD2 NOD1 NLRP3
11 cytokine activity GO:0005125 9.17 VEGFA TNF IL4 IL1B IL10 CSF3

Sources for Blau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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