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 72 36 29 13 54 6 15
Arthrocutaneouveal Granulomatosis 57 12 20 43 72
Sarcoidosis, Early-Onset 57 72 36 39 70
Jabs Syndrome 57 12 20 72
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 57 20 43
Blaus 57 12 72
Acug 57 20 72
Granulomatosis, Familial Juvenile Systemic 57 20
Familial Juvenile Systemic Granulomatosis 43 72
Granulomatosis, Familial, Blau Type 57 20
Eos 57 72
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 72
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 70
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 72
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 20-May-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 20-May-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 : 72 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 : 73 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 542)
# Related Disease Score Top Affiliating Genes
1 uveitis 31.2 TNF NOD2 IL4 IL1B IL10
2 panuveitis 31.1 TNF NOD2 IL10
3 inflammatory bowel disease 1 31.0 RIPK2 NOD2 NOD1
4 multifocal choroiditis 30.9 TNF IL10
5 iridocyclitis 30.8 TNF TLR4 IL1B IL10
6 choroiditis 30.8 TNF NOD2 IL10
7 tenosynovitis 30.8 TNF NOD2 IL1B
8 iritis 30.7 TNF NOD2 IL10
9 juvenile rheumatoid arthritis 30.6 TNF S100A12 IL1B IL10
10 crohn's colitis 30.5 TNF NOD2 IL1B
11 exanthem 30.3 TNF NLRP3 MVK MEFV IL1B IL10
12 erythema nodosum 30.3 TNF NOD2 IL1B IL10
13 cerebral palsy 30.2 TNF TLR4 IL4 IL1B IL10
14 chorioretinitis 30.1 TNF NOD2 IL1B IL10
15 pericarditis 30.1 TNF MEFV IL1B
16 takayasu arteritis 30.1 TNF S100A12 IL10
17 systemic onset juvenile idiopathic arthritis 30.0 TNF MEFV
18 wells syndrome 30.0 NLRP3 MEFV IL1B
19 measles 30.0 TNF TLR4 TLR2 IL1B
20 interstitial lung disease 29.9 TNF IL4 IL1B IL10
21 dermatitis 29.9 TNF TLR2 NOD2 IL4 IL1B IL10
22 liver cirrhosis 29.9 TNF TLR4 TLR2 IL1B IL10
23 neutropenia 29.9 TNF IL1B IL10 CSF1
24 pre-eclampsia 29.7 TNF TLR4 IL4 IL1B IL10
25 demyelinating disease 29.7 TNF IL4 IL1B IL10 CSF1
26 bacterial pneumonia 29.7 TNF TLR4 TLR2 S100A12 IL1B IL10
27 skin disease 29.7 TNF TLR2 IL4 IL1B IL10
28 brucellosis 29.6 TNF TLR4 MEFV IL4 IL10
29 keratitis, hereditary 29.6 TNF TLR4 TLR2 NLRP3 IL1B IL10
30 autoinflammatory syndrome 29.6 NLRP3 NLRP12 NLRC4
31 toxic shock syndrome 29.6 TNF TLR4 TLR2 IL4 IL1B IL10
32 toxoplasmosis 29.6 TNF TLR4 TLR2 IL4 IL1B IL10
33 psoriatic arthritis 29.5 TNF TLR2 S100A12 NOD2 IL4 IL1B
34 bone inflammation disease 29.4 TNF TLR4 TLR2 NLRP3 IL4 IL1B
35 pyoderma 29.2 TNF PSTPIP1 NOD2 NLRP3 MEFV IL1B
36 pyoderma gangrenosum 29.1 TNF PSTPIP1 NOD2 NLRP3 MVK MEFV
37 crohn's disease 29.1 TNF TLR4 TLR2 S100A12 RIPK2 NOD2
38 peritonitis 29.0 TNF TLR4 TLR2 NLRP3 MEFV IL4
39 asthma 28.8 TNF TLR4 TLR2 NOD2 NOD1 NLRP3
40 arthritis 28.4 TNF TLR4 TLR2 S100A12 PSTPIP1 NOD2
41 salmonellosis 28.4 TNF TLR4 TLR2 NOD2 NOD1 NLRP3
42 familial mediterranean fever 28.1 TNF TLR4 TLR2 S100A12 PSTPIP1 NOD2
43 muckle-wells syndrome 27.5 TNF PSTPIP1 NOD2 NOD1 NLRP3 NLRP12
44 inflammatory bowel disease 27.2 TNF TLR4 TLR2 S100A12 RIPK2 PSTPIP1
45 craniolenticulosutural dysplasia 11.5
46 eosinophilia, familial 11.3
47 aural atresia, multiple congenital anomalies, and mental retardation 11.1
48 sarcoidosis 1 10.7
49 scoliosis 10.7
50 idiopathic scoliosis 10.5

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 56)
# 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 abnormal salivary gland morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010286
40 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
41 large vessel vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005310
42 clear cell renal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006770
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 optic nerve 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-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 20-May-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 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 CSF1 IFNGR1 IL10 IL1B IL4 MEFV
2 immune system MP:0005387 10.31 CSF1 IFNGR1 IL10 IL1B IL4 MEFV
3 cellular MP:0005384 10.27 CSF1 IFNGR1 IL10 IL4 MEFV NLRC4
4 homeostasis/metabolism MP:0005376 10.25 CSF1 IFNGR1 IL10 IL1B IL4 MEFV
5 digestive/alimentary MP:0005381 10.18 IFNGR1 IL10 IL4 NLRP12 NLRP3 NOD2
6 integument MP:0010771 10.07 CSF1 IFNGR1 IL10 IL1B IL4 MEFV
7 mortality/aging MP:0010768 10.07 CSF1 IFNGR1 IL10 IL1B IL4 MEFV
8 liver/biliary system MP:0005370 9.97 CSF1 IFNGR1 IL10 IL4 MEFV NLRP3
9 neoplasm MP:0002006 9.7 IFNGR1 IL10 IL1B NLRP12 TLR2 TLR4
10 reproductive system MP:0005389 9.65 CSF1 IFNGR1 IL10 IL4 MEFV MVK
11 skeleton MP:0005390 9.4 CSF1 IFNGR1 IL10 IL1B IL4 MEFV

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
Enoxaparin Approved Phase 1 9005-49-6 772
4
Dalteparin Approved Phase 1 9005-49-6
5
Heparin Approved, Investigational Phase 1 9005-49-6 772 9812414
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 Heparin, Low-Molecular-Weight Phase 1
11 calcium heparin 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 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
3 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
4 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
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 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
8 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
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 300)
# Title Authors PMID Year
1
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 57 6 54 61
19467619 2010
2
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 6 54 57 61
15459013 2005
3
CARD15 mutations in Blau syndrome. 61 57 6 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. 57 6
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
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. 6 54 61
20084402 2010
9
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. 6 54 61
20199415 2010
10
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. 54 6 61
19116920 2009
11
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. 6 54 61
17968944 2007
12
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. 54 6 61
17393391 2007
13
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. 54 61 6
17207093 2006
14
A new CARD15 mutation in Blau syndrome. 6 61 54
15812565 2005
15
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. 54 6 61
15554080 2004
16
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. 6 61
28639104 2017
17
A Case of Blau Syndrome with NOD2 E383K Mutation. 6 61
27339507 2016
18
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. 6 61
26606664 2016
19
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 6 61
25416713 2015
20
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 61 6
25829188 2015
21
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. 6 61
25429073 2015
22
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 61 6
25093298 2014
23
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 61 6
24713464 2014
24
Blau syndrome, the prototypic auto-inflammatory granulomatous disease. 6 61
25136265 2014
25
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 61 6
22509093 2012
26
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 6 61
20565245 2010
27
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. 61 6
20039400 2010
28
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. 6 61
18718560 2009
29
Blau syndrome associated with a CARD15/NOD2 mutation. 6 61
17157607 2006
30
Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. 6 61
15044951 2004
31
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 61 6
14522785 2003
32
Blau syndrome: a new kindred. 61 57
12894082 2003
33
Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. 54 6
12626759 2003
34
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. 61 57
9508240 1998
35
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. 57 61
8900239 1996
36
Liver involvement in familial granulomatous arthritis (Blau syndrome). 57 61
8882056 1996
37
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. 61 57
8394645 1993
38
NOD2-associated autoinflammatory disease: a large cohort study. 6
26070941 2015
39
Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association. 6
26500656 2015
40
The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 6
22684479 2013
41
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 6
23102769 2013
42
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 6
21983784 2011
43
NOD2 exonic variations in Iranian Crohn's disease patients. 6
21274544 2011
44
Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 6
21548950 2011
45
Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC. 6
21335489 2011
46
A new category of autoinflammatory disease associated with NOD2 gene mutations. 6
21914217 2011
47
Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 6
19713276 2009
48
Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. 6
19479836 2009
49
NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. 6
19479837 2009
50
Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. 6
18489434 2008

Variations for Blau Syndrome

ClinVar genetic disease variations for Blau Syndrome:

6 (show top 50) (show all 492)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOD2 NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) SNV association 4693 rs2066844 GRCh37: 16:50745926-50745926
GRCh38: 16:50712015-50712015
2 NOD2 NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) SNV association 97856 rs104895467 GRCh37: 16:50750810-50750810
GRCh38: 16:50716899-50716899
3 NOD2 NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) Duplication association 4691 rs2066847 GRCh37: 16:50763778-50763779
GRCh38: 16:50729867-50729868
4 NOD2 NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter) SNV Pathogenic 973657 GRCh37: 16:50745949-50745949
GRCh38: 16:50712038-50712038
5 NOD2 NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV Pathogenic 4696 rs104895462 GRCh37: 16:50744822-50744822
GRCh38: 16:50710911-50710911
6 NOD2 NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV Pathogenic 4701 rs104895477 GRCh37: 16:50744969-50744969
GRCh38: 16:50711058-50711058
7 NOD2 NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV Pathogenic 4694 rs104895461 GRCh37: 16:50744823-50744823
GRCh38: 16:50710912-50710912
8 NOD2 NM_001370466.1(NOD2):c.1951del (p.Leu651fs) Deletion Pathogenic 638429 rs1201050964 GRCh37: 16:50745853-50745853
GRCh38: 16:50711942-50711942
9 NOD2 NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) SNV Pathogenic 97834 rs104895473 GRCh37: 16:50745360-50745360
GRCh38: 16:50711449-50711449
10 NOD2 NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) SNV Pathogenic 4698 rs104895472 GRCh37: 16:50745309-50745309
GRCh38: 16:50711398-50711398
11 NOD2 NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) SNV Pathogenic 4699 rs104895476 GRCh37: 16:50744968-50744968
GRCh38: 16:50711057-50711057
12 NOD2 NM_001370466.1(NOD2):c.2717+158C>T SNV Pathogenic 4697 rs5743289 GRCh37: 16:50756774-50756774
GRCh38: 16:50722863-50722863
13 NOD2 NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV Pathogenic 4694 rs104895461 GRCh37: 16:50744823-50744823
GRCh38: 16:50710912-50710912
14 NOD2 NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) SNV Pathogenic 4695 rs104895460 GRCh37: 16:50745227-50745227
GRCh38: 16:50711316-50711316
15 NOD2 NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV Pathogenic 4696 rs104895462 GRCh37: 16:50744822-50744822
GRCh38: 16:50710911-50710911
16 NOD2 NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV Pathogenic 4701 rs104895477 GRCh37: 16:50744969-50744969
GRCh38: 16:50711058-50711058
17 NOD2 NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) SNV Pathogenic 97832 rs104895478 GRCh37: 16:50745306-50745306
GRCh38: 16:50711395-50711395
18 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV risk factor 4692 rs2066845 GRCh37: 16:50756540-50756540
GRCh38: 16:50722629-50722629
19 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV Conflicting interpretations of pathogenicity 4692 rs2066845 GRCh37: 16:50756540-50756540
GRCh38: 16:50722629-50722629
20 NOD2 NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) Duplication Conflicting interpretations of pathogenicity 4691 rs2066847 GRCh37: 16:50763778-50763779
GRCh38: 16:50729867-50729868
21 NOD2 NM_001370466.1(NOD2):c.*329_*334dup Duplication Uncertain significance 319479 rs886052047 GRCh37: 16:50766057-50766058
GRCh38: 16:50732146-50732147
22 NOD2 NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile) SNV Uncertain significance 885263 GRCh37: 16:50744475-50744475
GRCh38: 16:50710564-50710564
23 NOD2 NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) SNV Uncertain significance 885262 GRCh37: 16:50741815-50741815
GRCh38: 16:50707904-50707904
24 NOD2 NM_001370466.1(NOD2):c.461C>A (p.Ala154Glu) SNV Uncertain significance 863781 GRCh37: 16:50741767-50741767
GRCh38: 16:50707856-50707856
25 NOD2 NM_001370466.1(NOD2):c.841C>T (p.Leu281Phe) SNV Uncertain significance 845687 GRCh37: 16:50744744-50744744
GRCh38: 16:50710833-50710833
26 NOD2 NM_001370466.1(NOD2):c.2878A>T (p.Ile960Phe) SNV Uncertain significance 1053958 GRCh37: 16:50759476-50759476
GRCh38: 16:50725565-50725565
27 NOD2 NM_001370466.1(NOD2):c.40C>G (p.Leu14Val) SNV Uncertain significance 1055441 GRCh37: 16:50733446-50733446
GRCh38: 16:50699535-50699535
28 NOD2 NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) SNV Uncertain significance 319455 rs369957746 GRCh37: 16:50745803-50745803
GRCh38: 16:50711892-50711892
29 NOD2 NM_001370466.1(NOD2):c.2525G>T (p.Cys842Phe) SNV Uncertain significance 1058238 GRCh37: 16:50750861-50750861
GRCh38: 16:50716950-50716950
30 NOD2 NM_001370466.1(NOD2):c.917G>A (p.Cys306Tyr) SNV Uncertain significance 1059021 GRCh37: 16:50744820-50744820
GRCh38: 16:50710909-50710909
31 NOD2 NM_001370466.1(NOD2):c.-8-2171G>A SNV Uncertain significance 1060229 GRCh37: 16:50731228-50731228
GRCh38: 16:50697317-50697317
32 NOD2 NM_001370466.1(NOD2):c.2465+6T>A SNV Uncertain significance 1060337 GRCh37: 16:50750587-50750587
GRCh38: 16:50716676-50716676
33 NOD2 NM_001370466.1(NOD2):c.2337C>T (p.Gly779=) SNV Uncertain significance 1060339 GRCh37: 16:50746240-50746240
GRCh38: 16:50712329-50712329
34 NOD2 NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn) SNV Uncertain significance 1063290 GRCh37: 16:50765710-50765710
GRCh38: 16:50731799-50731799
35 NOD2 NM_001370466.1(NOD2):c.1217T>C (p.Phe406Ser) SNV Uncertain significance 1063468 GRCh37: 16:50745120-50745120
GRCh38: 16:50711209-50711209
36 NOD2 NM_001370466.1(NOD2):c.2816A>G (p.His939Arg) SNV Uncertain significance 1064257 GRCh37: 16:50759414-50759414
GRCh38: 16:50725503-50725503
37 NOD2 NM_001370466.1(NOD2):c.1344G>C (p.Glu448Asp) SNV Uncertain significance 1064362 GRCh37: 16:50745247-50745247
GRCh38: 16:50711336-50711336
38 NOD2 NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser) SNV Uncertain significance 319452 rs104895438 GRCh37: 16:50745656-50745656
GRCh38: 16:50711745-50711745
39 NOD2 NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn) SNV Uncertain significance 319463 rs756184386 GRCh37: 16:50746152-50746152
GRCh38: 16:50712241-50712241
40 NOD2 NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) SNV Uncertain significance 4700 rs104895438 GRCh37: 16:50745656-50745656
GRCh38: 16:50711745-50711745
41 NOD2 NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) SNV Uncertain significance 779017 rs114664276 GRCh37: 16:50745873-50745873
GRCh38: 16:50711962-50711962
42 NOD2 NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) SNV Uncertain significance 992540 GRCh37: 16:50746019-50746019
GRCh38: 16:50712108-50712108
43 NOD2 NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu) SNV Uncertain significance 1000144 GRCh37: 16:50745767-50745767
GRCh38: 16:50711856-50711856
44 NOD2 NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu) SNV Uncertain significance 1001128 GRCh37: 16:50733705-50733705
GRCh38: 16:50699794-50699794
45 NOD2 NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val) SNV Uncertain significance 97841 rs104895439 GRCh37: 16:50745657-50745657
GRCh38: 16:50711746-50711746
46 NOD2 NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys) SNV Uncertain significance 1004616 GRCh37: 16:50745968-50745968
GRCh38: 16:50712057-50712057
47 NOD2 NM_001370466.1(NOD2):c.1765G>A (p.Ala589Thr) SNV Uncertain significance 1006032 GRCh37: 16:50745668-50745668
GRCh38: 16:50711757-50711757
48 NOD2 NM_001370466.1(NOD2):c.2298G>A (p.Val766=) SNV Uncertain significance 1008353 GRCh37: 16:50746201-50746201
GRCh38: 16:50712290-50712290
49 NOD2 NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp) SNV Uncertain significance 872460 GRCh37: 16:50744718-50744718
GRCh38: 16:50710807-50710807
50 NOD2 NM_001370466.1(NOD2):c.1030C>G (p.Pro344Ala) SNV Uncertain significance 1015243 GRCh37: 16:50744933-50744933
GRCh38: 16:50711022-50711022

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

72 (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 57)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 TNF TLR4 TLR2 S100A12 RIPK2 PSTPIP1
2
Show member pathways
13.41 TNF TLR4 TLR2 IL4 IL1B IL10
3
Show member pathways
13.39 TNF RIPK2 NOD2 NOD1 IL4 IL1B
4
Show member pathways
13.23 TNF TLR4 TLR2 NLRP3 IL1B IL10
5
Show member pathways
12.85 TNF TLR4 TLR2 NLRP3 IL1B IFNGR1
6
Show member pathways
12.84 TNF TLR4 TLR2 IL4 IL1B IFNGR1
7
Show member pathways
12.83 TNF TLR4 TLR2 RIPK2 NOD1 NLRP3
8
Show member pathways
12.68 TNF IL1B IL10 IFNGR1 CSF1
9 12.66 TNF TLR2 RIPK2 NOD1 IL4 IL1B
10
Show member pathways
12.66 TNF TLR4 TLR2 NOD2 IL4 IL1B
11
Show member pathways
12.59 S100A12 RIPK2 NOD2 NOD1 IL1B
12
Show member pathways
12.52 TNF TLR4 TLR2 RIPK2 PSTPIP1 IL4
13 12.49 TNF TLR4 RIPK2 NOD1 NLRP3 NLRC4
14
Show member pathways
12.35 TNF IL4 IL1B CSF1
15
Show member pathways
12.35 TNF TLR2 IL4 IL1B
16
Show member pathways
12.33 TNF TLR4 TLR2 IL4 IL1B IL10
17
Show member pathways
12.32 RIPK2 NOD2 NOD1 IL1B
18
Show member pathways
12.31 TNF TLR4 IL1B IFNGR1
19
Show member pathways
12.29 TNF TLR4 TLR2 IL4 IL1B IFNGR1
20
Show member pathways
12.26 TNF TLR4 NLRP3 IL1B IFNGR1
21
Show member pathways
12.26 TNF TLR4 TLR2 RIPK2 NOD2 NOD1
22
Show member pathways
12.24 TNF NLRP3 IL1B IL10
23 12.22 TNF TLR4 TLR2 IFNGR1
24 12.11 TNF TLR4 TLR2 RIPK2 NOD2 IL1B
25 12.08 TNF TLR4 NLRP3 NLRC4 MEFV IL1B
26 12.06 TNF TLR4 IL4 IL1B
27 12.04 TNF IL4 IL10 CSF1
28 12.03 TNF IL4 IL1B IL10
29 12.02 TNF NOD2 IL1B CSF1
30 12.02 TNF TLR4 TLR2 IL1B IL10
31 11.98 TNF TLR4 TLR2 IL1B CSF1
32
Show member pathways
11.97 RIPK2 PSTPIP1 NOD2 NOD1 NLRP3 NLRC4
33 11.96 TNF IL4 IL1B CSF1
34
Show member pathways
11.91 TLR4 TLR2 IL4 IL1B
35 11.85 TNF IL4 IL1B IL10
36 11.81 TNF IL1B IL10 CSF1
37 11.81 TNF TLR4 TLR2 IL4 IL10
38
Show member pathways
11.81 TNF TLR4 TLR2 IL1B IL10 IFNGR1
39 11.79 TNF TLR4 NOD1 NLRP3 IL1B IL10
40 11.74 TNF TLR4 TLR2 NLRC4 IL1B
41 11.68 TNF IL4 IL1B
42 11.66 TNF TLR4 TLR2 IL1B IL10
43 11.64 TNF IL4 IL1B IL10 CSF1
44 11.62 TNF TLR4 TLR2 IL1B CSF1
45 11.62 TNF TLR4 RIPK2 PSTPIP1 NOD2 NOD1
46 11.61 TNF TLR4 RIPK2
47 11.47 TNF TLR4 IL1B IL10
48 11.44 RIPK2 NOD2 NOD1
49 11.43 TNF IL1B IL10
50 11.37 TNF IL4 IL1B

GO Terms for Blau Syndrome

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

(show top 50) (show all 89)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.35 TLR4 TLR2 RIPK2 PSTPIP1 NOD1 NLRP3
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.3 TNF TLR4 TLR2 RIPK2 NOD2 NLRP3
3 apoptotic process GO:0006915 10.23 TLR2 RIPK2 NOD1 NLRP3 NLRC4 IL1B
4 immune response GO:0006955 10.18 TNF TLR4 TLR2 IL4 IL1B IL10
5 positive regulation of gene expression GO:0010628 10.18 TNF TLR4 TLR2 IL4 IL1B IFNGR1
6 immune system process GO:0002376 10.14 TLR4 TLR2 S100A12 RIPK2 PSTPIP1 NOD2
7 cytokine-mediated signaling pathway GO:0019221 10.12 TNF IL4 IL1B IL10 IFNGR1 CSF1
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.09 TNF TLR4 RIPK2 NOD2 NOD1
9 defense response to bacterium GO:0042742 10.09 TNF TLR4 S100A12 NOD2 NOD1 NLRC4
10 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.07 TNF TLR4 S100A12 RIPK2 NOD2 NOD1
11 regulation of apoptotic process GO:0042981 10.06 RIPK2 NOD2 NOD1 NLRC4
12 response to lipopolysaccharide GO:0032496 10.06 TLR4 TLR2 NOD2 IL1B IL10
13 innate immune response GO:0045087 10.06 TLR4 TLR2 S100A12 RIPK2 PSTPIP1 NOD2
14 negative regulation of inflammatory response GO:0050728 10.03 NLRP3 NLRP12 MVK MEFV IL4 IL10
15 defense response GO:0006952 10.02 TNF NOD2 NOD1 NLRP3
16 activation of MAPK activity GO:0000187 10.01 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
17 interleukin-1-mediated signaling pathway GO:0070498 10 RIPK2 NOD2 NOD1 IL1B
18 defense response to Gram-positive bacterium GO:0050830 10 TNF TLR2 RIPK2 NOD2 NOD1
19 positive regulation of inflammatory response GO:0050729 10 TNF TLR4 TLR2 S100A12 NLRP12 IL1B
20 cellular response to lipopolysaccharide GO:0071222 10 TNF TLR4 RIPK2 NOD2 NLRP3 IL1B
21 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.99 TNF NOD1 NLRP12 NLRC4
22 negative regulation of tumor necrosis factor production GO:0032720 9.98 TLR4 NOD2 IL4 IL10
23 negative regulation of interleukin-6 production GO:0032715 9.98 TNF TLR4 NLRP12 IL10
24 positive regulation of interferon-gamma production GO:0032729 9.97 TNF TLR4 RIPK2 IL1B
25 positive regulation of tumor necrosis factor production GO:0032760 9.97 TLR4 TLR2 RIPK2 NOD2 NOD1 IFNGR1
26 JNK cascade GO:0007254 9.95 TNF RIPK2 NOD2 NOD1
27 positive regulation of JNK cascade GO:0046330 9.95 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
28 regulation of inflammatory response GO:0050727 9.94 TNF TLR4 NOD2
29 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.94 NOD2 NLRP3 NLRP12
30 cellular response to organic cyclic compound GO:0071407 9.93 TNF NOD2 IL1B
31 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.93 TNF TLR4 RIPK2
32 positive regulation of interleukin-12 production GO:0032735 9.93 TLR4 TLR2 RIPK2 NOD2
33 positive regulation of MAP kinase activity GO:0043406 9.92 TNF S100A12 NOD2
34 positive regulation of chemokine production GO:0032722 9.92 TNF TLR4 TLR2 RIPK2
35 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.91 TNF NOD1 NLRP3
36 positive regulation of interleukin-10 production GO:0032733 9.91 TLR4 TLR2 NOD2 IL4
37 lipopolysaccharide-mediated signaling pathway GO:0031663 9.91 TNF TLR4 TLR2 RIPK2 IL1B
38 positive regulation of interleukin-8 production GO:0032757 9.91 TNF TLR4 TLR2 NOD2 NOD1 IL1B
39 positive regulation of interleukin-6 production GO:0032755 9.91 TNF TLR4 TLR2 RIPK2 NOD2 NOD1
40 positive regulation of phagocytosis GO:0050766 9.9 TNF NOD2 IL1B
41 positive regulation of nitric oxide biosynthetic process GO:0045429 9.9 TNF TLR4 IL1B
42 negative regulation of interferon-gamma production GO:0032689 9.9 TLR4 NOD2 IL10
43 microglial cell activation GO:0001774 9.9 TNF TLR2 IL4 IFNGR1
44 positive regulation of interferon-beta production GO:0032728 9.89 TLR4 TLR2 RIPK2
45 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.88 TNF NLRP12 IL1B
46 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.88 TNF TLR4 NOD2
47 positive regulation of stress-activated MAPK cascade GO:0032874 9.88 TLR4 RIPK2 NOD2 NOD1
48 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.87 RIPK2 NOD2 NOD1
49 negative regulation of interleukin-12 production GO:0032695 9.86 NOD2 MEFV IL10
50 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.85 TLR4 TLR2 NOD2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 TNF TLR4 TLR2 S100A12 RIPK2 PSTPIP1
2 cytokine activity GO:0005125 9.72 TNF IL4 IL1B IL10 CSF1
3 identical protein binding GO:0042802 9.7 TNF TLR4 TLR2 RIPK2 PSTPIP1 NOD1
4 caspase binding GO:0089720 9.43 RIPK2 NLRC4
5 CARD domain binding GO:0050700 9.43 RIPK2 NOD2 NOD1
6 lipopolysaccharide receptor activity GO:0001875 9.4 TLR4 TLR2
7 pattern recognition receptor activity GO:0038187 9.33 TLR2 NOD2 NOD1
8 peptidoglycan binding GO:0042834 8.92 TLR2 NOD2 NOD1 NLRP3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....