BLAUS
MCID: BLS001
MIFTS: 59

Blau Syndrome (BLAUS)

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

Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 58 12 54 26 76 38 30 13 56 6 15 41
Sarcoidosis, Early-Onset 58 76 38 30 13 6 41 74
Arthrocutaneouveal Granulomatosis 58 12 54 26 76
Jabs Syndrome 58 12 54 76
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 58 54 26
Acug 58 54 76
Granulomatosis, Familial Juvenile Systemic 58 54
Familial Juvenile Systemic Granulomatosis 26 76
Granulomatosis, Familial, Blau Type 58 54
Blaus 58 76
Eos 58 76
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 76
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 74
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 54
Arthrocutaneouveal Granulomatosis; Acug 58
Familial Granulomatosis, Blau Type 26
Pediatric Granulomatous Arthritis 26
Familial Granulomatosis Blau Type 76
Sarcoidosis, Early-Onset; Eos 58
Early-Onset Sarcoidosis 26

Characteristics:

OMIM:

58
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:

33
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blau Syndrome

OMIM : 58 Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). (186580)

MalaCards based summary : Blau Syndrome, also known as sarcoidosis, early-onset, is related to arthritis and sarcoidosis 1. 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. Affiliated tissues include skin, eye and liver, and related phenotypes are joint swelling and arthralgia

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 : 26 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.

NIH Rare Diseases : 54 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).

UniProtKB/Swiss-Prot : 76 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 : 77 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 214)
# Related Disease Score Top Affiliating Genes
1 arthritis 30.7 IL1B NOD2 TNF
2 sarcoidosis 1 30.7 IL1B NOD2 TNF
3 granulomatous dermatitis 30.6 NOD2 TNF
4 crohn's colitis 30.1 IL1B NOD2 TNF
5 systemic onset juvenile idiopathic arthritis 30.0 MEFV TNF
6 asthma 29.6 IL1B NLRP3 NOD1 TNF
7 familial mediterranean fever 28.4 IL1B MEFV MVK NLRP3 NOD2 TNF
8 craniolenticulosutural dysplasia 11.9
9 eosinophilia, familial 11.9
10 exogenous ochronosis 11.3
11 phenylketonuria 11.2
12 aural atresia, multiple congenital anomalies, and mental retardation 11.1
13 scoliosis 10.6
14 idiopathic scoliosis 10.5
15 scoliosis, isolated 1 10.5
16 uveitis 10.4
17 ileocolitis 10.3 NOD2 TNF
18 streptococcal meningitis 10.3 NOD2 TNF
19 orofacial granulomatosis 10.3 NOD2 TNF
20 trench fever 10.3 TLR2 TNF
21 hidradenitis suppurativa 10.3 NOD2 TNF
22 hidradenitis 10.3 NOD2 TNF
23 mesenteric lymphadenitis 10.3 NOD2 TLR2
24 penicilliosis 10.3 TLR2 TNF
25 exudative glomerulonephritis 10.3 IL1B TNF
26 nontuberculous mycobacterial lung disease 10.3 TLR2 TNF
27 melkersson-rosenthal syndrome 10.3 NOD2 TNF
28 staphylococcal toxic shock syndrome 10.3 IL1B TNF
29 hypersensitivity reaction type iv disease 10.3 NOD2 TNF
30 kashin-beck disease 10.3 IL1B TNF
31 burns 10.3 IL1B TNF
32 mycoplasma pneumoniae pneumonia 10.3 TLR2 TNF
33 glossitis 10.3 IL1B TNF
34 laryngitis 10.3 IL1B TNF
35 cerebral artery occlusion 10.3 IL1B TNF
36 opisthorchiasis 10.3 IL1B TNF
37 alveolar echinococcosis 10.3 TLR2 TNF
38 acute graft versus host disease 10.3 NOD2 TNF
39 echinococcosis 10.3 TLR2 TNF
40 retinitis pigmentosa 60 10.3 IL1B TNF
41 irritant dermatitis 10.3 IL1B TNF
42 acute vascular insufficiency of intestine 10.3 IL1B TNF
43 actinic prurigo 10.3 IL1B TNF
44 prosthetic joint infection 10.3 IL1B TLR2
45 tuberculous meningitis 10.3 TLR2 TNF
46 osteosclerotic myeloma 10.3 IL1B TNF
47 poems syndrome 10.3 IL1B TNF
48 autoimmune gastritis 10.2 IL1B TNF
49 central nervous system vasculitis 10.2 IL1B TNF
50 inflammatory bowel disease 9 10.2 NOD1 NOD2

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:

33 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 joint swelling 33 hallmark (90%) HP:0001386
2 arthralgia 33 hallmark (90%) HP:0002829
3 limitation of joint mobility 33 hallmark (90%) HP:0001376
4 keratitis 33 hallmark (90%) HP:0000491
5 erythema 33 hallmark (90%) HP:0010783
6 skin rash 33 hallmark (90%) HP:0000988
7 papule 33 hallmark (90%) HP:0200034
8 hyperpigmentation of the skin 33 hallmark (90%) HP:0000953
9 synovitis 33 hallmark (90%) HP:0100769
10 iridocyclitis 33 hallmark (90%) HP:0001094
11 polyarticular arthritis 33 hallmark (90%) HP:0005764
12 posterior uveitis 33 hallmark (90%) HP:0012123
13 cataract 33 frequent (33%) HP:0000518
14 photophobia 33 frequent (33%) HP:0000613
15 fever 33 frequent (33%) HP:0001945
16 dry skin 33 frequent (33%) HP:0000958
17 glaucoma 33 frequent (33%) HP:0000501
18 camptodactyly of finger 33 frequent (33%) HP:0100490
19 erythema nodosum 33 frequent (33%) HP:0012219
20 hypertension 33 occasional (7.5%) HP:0000822
21 facial palsy 33 occasional (7.5%) HP:0010628
22 splenomegaly 33 occasional (7.5%) HP:0001744
23 ichthyosis 33 occasional (7.5%) HP:0008064
24 nephropathy 33 occasional (7.5%) HP:0000112
25 retinopathy 33 occasional (7.5%) HP:0000488
26 dyspnea 33 occasional (7.5%) HP:0002094
27 anemia 33 occasional (7.5%) HP:0001903
28 pulmonary arterial hypertension 33 occasional (7.5%) HP:0002092
29 skin ulcer 33 occasional (7.5%) HP:0200042
30 visual loss 33 occasional (7.5%) HP:0000572
31 xerostomia 33 occasional (7.5%) HP:0000217
32 pericarditis 33 occasional (7.5%) HP:0001701
33 lymphadenopathy 33 occasional (7.5%) HP:0002716
34 abnormality of the liver 33 occasional (7.5%) HP:0001392
35 retrobulbar optic neuritis 33 occasional (7.5%) HP:0100654
36 stage 5 chronic kidney disease 33 occasional (7.5%) HP:0003774
37 aortic aneurysm 33 occasional (7.5%) HP:0004942
38 large vessel vasculitis 33 occasional (7.5%) HP:0005310
39 abnormal choroid morphology 33 occasional (7.5%) HP:0000610
40 abnormal salivary gland morphology 33 occasional (7.5%) HP:0010286
41 abnormal retinal vascular morphology 33 occasional (7.5%) HP:0008046
42 clear cell renal cell carcinoma 33 occasional (7.5%) HP:0006770
43 arthritis 33 HP:0001369
44 eczema 33 HP:0000964
45 flexion contracture of toe 33 HP:0005830
46 uveitis 33 HP:0000554
47 iritis 33 HP:0001101
48 abnormality of the ear 33 HP:0000598
49 band keratopathy 33 HP:0000585
50 cystoid macular edema 33 HP:0011505

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
joint swelling
joint contractures
granulomatous synovitis
granulomatous arthritis
synovial cysts
more
Skeletal Hands:
camptodactyly
flexion contractures of the fingers

Skeletal Feet:
flexion contractures of the toes

Head And Neck Eyes:
glaucoma
uveitis
iritis
band keratopathy
cystoid macular edema
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 IL1B NLRP3 NOD1 NOD2 TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 IL1B NLRP3 NOD1 NOD2 TNF

MGI Mouse Phenotypes related to Blau Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
2 immune system MP:0005387 9.7 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
3 integument MP:0010771 9.35 IL1B MEFV NLRP3 TLR2 TNF
4 skeleton MP:0005390 9.1 IL1B MEFV NLRP3 NOD2 TLR2 TNF

Drugs & Therapeutics for Blau Syndrome

Search Clinical Trials , NIH Clinical Center for Blau Syndrome

Genetic Tests for Blau Syndrome

Genetic tests related to Blau Syndrome:

# Genetic test Affiliating Genes
1 Blau Syndrome 30 NOD2
2 Sarcoidosis, Early-Onset 30

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

42
Skin, Eye, Liver, Lung, Kidney, Prostate, Salivary Gland

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(show top 50) (show all 118)
# Title Authors Year
1
A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. ( 31062074 )
2019
2
S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis. ( 30406853 )
2019
3
Familial Blau syndrome:First molecularly confirmed report from India. ( 30574935 )
2019
4
Ocular Features in Chinese Patients with Blau Syndrome. ( 30806112 )
2019
5
Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography. ( 30989150 )
2019
6
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. ( 27419275 )
2018
7
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. ( 27625029 )
2018
8
Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages. ( 28587749 )
2018
9
Two Chinese pedigrees of Blau syndrome with thirteen affected members. ( 28721627 )
2018
10
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. ( 28887115 )
2018
11
A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome. ( 29082556 )
2018
12
Blau syndrome with good Reponses to Tocilizumab: A case report and focused literature review. ( 29110911 )
2018
13
PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME. ( 29210964 )
2018
14
The Challenge of Blau Syndrome. ( 29338849 )
2018
15
Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab. ( 29570830 )
2018
16
S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome. ( 29635517 )
2018
17
Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab. ( 30249847 )
2018
18
A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course. ( 30693132 )
2018
19
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 )
2017
20
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. ( 27304707 )
2017
21
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. ( 27874205 )
2017
22
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. ( 28532706 )
2017
23
Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome. ( 28604349 )
2017
24
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. ( 28639104 )
2017
25
Oral Macrolides for the Dermatologic Manifestations of Blau Syndrome. ( 28724114 )
2017
26
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. ( 28750667 )
2017
27
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function. ( 28836875 )
2017
28
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. ( 26606664 )
2016
29
Intractable leg ulcers in Blau syndrome. ( 26969879 )
2016
30
A Case of Blau Syndrome with NOD2 E383K Mutation. ( 27339507 )
2016
31
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. ( 27403452 )
2016
32
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. ( 28018435 )
2016
33
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). ( 25209167 )
2015
34
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. ( 25416713 )
2015
35
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. ( 25429073 )
2015
36
A new mutation in blau syndrome. ( 25692065 )
2015
37
Somatic NOD2 mosaicism in Blau syndrome. ( 25724124 )
2015
38
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. ( 25829188 )
2015
39
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. ( 26509073 )
2015
40
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. ( 26517420 )
2015
41
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. ( 26712281 )
2015
42
NOD2-associated autoinflammatory disease: a large cohort study. ( 26070941 )
2015
43
Blau syndrome and latent tubercular infection: an unresolved partnership. ( 24646037 )
2014
44
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. ( 24713464 )
2014
45
A case of blau syndrome. ( 24876985 )
2014
46
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. ( 25093298 )
2014
47
Blau syndrome, the prototypic auto-inflammatory granulomatous disease. ( 25136265 )
2014
48
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. ( 25182201 )
2014
49
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? ( 22821420 )
2013
50
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. ( 23124805 )
2013

Variations for Blau Syndrome

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

76 (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

ClinVar genetic disease variations for Blau Syndrome:

6 (show top 50) (show all 427)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh38 Chromosome 16, 50729870: 50729870
2 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh37 Chromosome 16, 50763781: 50763781
3 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh37 Chromosome 16, 50756540: 50756540
4 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh38 Chromosome 16, 50722629: 50722629
5 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh37 Chromosome 16, 50745926: 50745926
6 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh38 Chromosome 16, 50712015: 50712015
7 NOD2 NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh37 Chromosome 16, 50744823: 50744823
8 NOD2 NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh38 Chromosome 16, 50710912: 50710912
9 NOD2 NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe) single nucleotide variant Pathogenic rs104895460 GRCh37 Chromosome 16, 50745227: 50745227
10 NOD2 NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe) single nucleotide variant Pathogenic rs104895460 GRCh38 Chromosome 16, 50711316: 50711316
11 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh37 Chromosome 16, 50744822: 50744822
12 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh38 Chromosome 16, 50710911: 50710911
13 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774
14 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh38 Chromosome 16, 50722863: 50722863
15 NOD2 NM_022162.2(NOD2): c.1487A> T (p.His496Leu) single nucleotide variant Pathogenic rs104895472 GRCh37 Chromosome 16, 50745309: 50745309
16 NOD2 NM_022162.2(NOD2): c.1487A> T (p.His496Leu) single nucleotide variant Pathogenic rs104895472 GRCh38 Chromosome 16, 50711398: 50711398
17 NOD2 NM_022162.2(NOD2): c.1146C> G (p.Asp382Glu) single nucleotide variant Pathogenic rs104895476 GRCh37 Chromosome 16, 50744968: 50744968
18 NOD2 NM_022162.2(NOD2): c.1146C> G (p.Asp382Glu) single nucleotide variant Pathogenic rs104895476 GRCh38 Chromosome 16, 50711057: 50711057
19 NOD2 NM_022162.2(NOD2): c.1834G> A (p.Ala612Thr) single nucleotide variant Likely benign rs104895438 GRCh37 Chromosome 16, 50745656: 50745656
20 NOD2 NM_022162.2(NOD2): c.1834G> A (p.Ala612Thr) single nucleotide variant Likely benign rs104895438 GRCh38 Chromosome 16, 50711745: 50711745
21 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh37 Chromosome 16, 50744969: 50744969
22 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh38 Chromosome 16, 50711058: 50711058
23 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 NCBI36 Chromosome 16, 49302689: 49302689
24 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 GRCh37 Chromosome 16, 50745188: 50745188
25 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 GRCh38 Chromosome 16, 50711277: 50711277
26 NOD2 NM_022162.2(NOD2): c.*9G> A single nucleotide variant not provided rs104895459 GRCh37 Chromosome 16, 50765739: 50765739
27 NOD2 NM_022162.2(NOD2): c.*9G> A single nucleotide variant not provided rs104895459 GRCh38 Chromosome 16, 50731828: 50731828
28 NOD2 NM_022162.2(NOD2): c.1042C> G (p.Leu348Val) single nucleotide variant not provided rs104895428 GRCh37 Chromosome 16, 50744864: 50744864
29 NOD2 NM_022162.2(NOD2): c.1042C> G (p.Leu348Val) single nucleotide variant not provided rs104895428 GRCh38 Chromosome 16, 50710953: 50710953
30 NOD2 NM_022162.2(NOD2): c.1065G> A (p.Trp355Ter) single nucleotide variant not provided rs104895488 GRCh37 Chromosome 16, 50744887: 50744887
31 NOD2 NM_022162.2(NOD2): c.1065G> A (p.Trp355Ter) single nucleotide variant not provided rs104895488 GRCh38 Chromosome 16, 50710976: 50710976
32 NOD2 NM_022162.2(NOD2): c.1070A> C (p.Asp357Ala) single nucleotide variant not provided rs104895469 GRCh37 Chromosome 16, 50744892: 50744892
33 NOD2 NM_022162.2(NOD2): c.1070A> C (p.Asp357Ala) single nucleotide variant not provided rs104895469 GRCh38 Chromosome 16, 50710981: 50710981
34 NOD2 NM_022162.2(NOD2): c.1087A> T (p.Ile363Phe) single nucleotide variant Uncertain significance rs104895470 GRCh37 Chromosome 16, 50744909: 50744909
35 NOD2 NM_022162.2(NOD2): c.1087A> T (p.Ile363Phe) single nucleotide variant Uncertain significance rs104895470 GRCh38 Chromosome 16, 50710998: 50710998
36 NOD2 NM_022162.2(NOD2): c.113G> T (p.Arg38Met) single nucleotide variant not provided rs104895487 GRCh37 Chromosome 16, 50733438: 50733438
37 NOD2 NM_022162.2(NOD2): c.113G> T (p.Arg38Met) single nucleotide variant not provided rs104895487 GRCh38 Chromosome 16, 50699527: 50699527
38 NOD2 NM_022162.2(NOD2): c.1148A> G (p.Glu383Gly) single nucleotide variant not provided rs104895493 GRCh37 Chromosome 16, 50744970: 50744970
39 NOD2 NM_022162.2(NOD2): c.1148A> G (p.Glu383Gly) single nucleotide variant not provided rs104895493 GRCh38 Chromosome 16, 50711059: 50711059
40 NOD2 NM_022162.2(NOD2): c.1171C> T (p.Arg391Cys) single nucleotide variant not provided rs104895481 GRCh37 Chromosome 16, 50744993: 50744993
41 NOD2 NM_022162.2(NOD2): c.1171C> T (p.Arg391Cys) single nucleotide variant not provided rs104895481 GRCh38 Chromosome 16, 50711082: 50711082
42 NOD2 NM_022162.2(NOD2): c.1241A> G (p.Asn414Ser) single nucleotide variant Uncertain significance rs104895429 GRCh37 Chromosome 16, 50745063: 50745063
43 NOD2 NM_022162.2(NOD2): c.1241A> G (p.Asn414Ser) single nucleotide variant Uncertain significance rs104895429 GRCh38 Chromosome 16, 50711152: 50711152
44 NOD2 NM_022162.2(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 GRCh37 Chromosome 16, 50745103: 50745103
45 NOD2 NM_022162.2(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 GRCh38 Chromosome 16, 50711192: 50711192
46 NOD2 NM_022162.2(NOD2): c.1292C> T (p.Ser431Leu) single nucleotide variant Likely benign rs104895431 GRCh37 Chromosome 16, 50745114: 50745114
47 NOD2 NM_022162.2(NOD2): c.1292C> T (p.Ser431Leu) single nucleotide variant Likely benign rs104895431 GRCh38 Chromosome 16, 50711203: 50711203
48 NOD2 NM_022162.2(NOD2): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs104895432 GRCh37 Chromosome 16, 50745143: 50745143
49 NOD2 NM_022162.2(NOD2): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs104895432 GRCh38 Chromosome 16, 50711232: 50711232
50 NOD2 NM_022162.2(NOD2): c.1387C> G (p.Pro463Ala) single nucleotide variant not provided rs104895482 GRCh37 Chromosome 16, 50745209: 50745209

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:

38
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
2
Show member pathways
12.44 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
3
Show member pathways
12.33 IL1B NOD2 TLR2 TNF
4 12.29 IL1B NOD1 TLR2 TNF
5
Show member pathways
12.14 IL1B TLR2 TNF
6
Show member pathways
12.11 IL1B NOD1 NOD2
7
Show member pathways
12.06 IL1B TLR2 TNF
8
Show member pathways
12.03 IL1B TLR2 TNF
9
Show member pathways
12.01 IL1B NLRP3 TNF
10
Show member pathways
12.01 IL1B NLRP3 TNF
11
Show member pathways
11.98 IL1B TLR2 TNF
12 11.92 IL1B NOD2 TLR2 TNF
13
Show member pathways
11.85 IL1B TLR2 TNF
14
Show member pathways
11.82 IL1B TLR2 TNF
15 11.75 IL1B NOD2 TNF
16 11.68 IL1B TLR2 TNF
17 11.65 IL1B TLR2 TNF
18
Show member pathways
11.62 MEFV NLRP3 NOD1 NOD2
19 11.37 IL1B TLR2 TNF
20 11.36 IL1B TNF
21 11.35 IL1B TNF
22 11.34 IL1B NLRP3 NOD1 TNF
23 11.32 IL1B TNF
24
Show member pathways
11.3 IL1B TNF
25 11.3 IL1B TLR2 TNF
26 11.26 IL1B TLR2 TNF
27 11.23 NOD1 NOD2
28 11.22 IL1B TNF
29 11.19 IL1B TNF
30 11.15 IL1B TNF
31 11.13 IL1B TNF
32 11.1 IL1B TNF
33 10.98 NOD2 TNF
34 10.95 IL1B TNF
35 10.9 IL1B NLRP3 TLR2
36 10.77 IL1B TNF
37 10.63 IL1B MEFV NLRP3 NOD1 NOD2

GO Terms for Blau Syndrome

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.97 MEFV NLRP3 NOD1 NOD2 TLR2
2 innate immune response GO:0045087 9.95 MEFV NLRP3 NOD1 NOD2 TLR2
3 defense response to bacterium GO:0042742 9.9 NOD1 NOD2 TNF
4 inflammatory response GO:0006954 9.88 IL1B MEFV NLRP3 NOD1 TLR2 TNF
5 negative regulation of inflammatory response GO:0050728 9.85 MEFV MVK NLRP3
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.84 NLRP3 NOD1 TNF
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.84 IL1B NOD1 NOD2 TNF
8 protein complex oligomerization GO:0051259 9.82 NLRP3 NOD1 NOD2
9 cellular response to organic cyclic compound GO:0071407 9.81 IL1B NOD2 TNF
10 regulation of inflammatory response GO:0050727 9.81 NLRP3 NOD2 TNF
11 cellular response to lipopolysaccharide GO:0071222 9.81 IL1B NLRP3 NOD2 TNF
12 defense response GO:0006952 9.8 NLRP3 NOD1 NOD2 TNF
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 NOD1 NOD2 TNF
14 activation of MAPK activity GO:0000187 9.78 IL1B NOD1 NOD2 TNF
15 positive regulation of tumor necrosis factor production GO:0032760 9.77 NOD1 NOD2 TLR2
16 JNK cascade GO:0007254 9.77 NOD1 NOD2 TNF
17 interleukin-1-mediated signaling pathway GO:0070498 9.76 IL1B NOD1 NOD2
18 defense response to Gram-positive bacterium GO:0050830 9.76 NLRP3 NOD1 TLR2 TNF
19 positive regulation of interferon-gamma production GO:0032729 9.73 IL1B TNF
20 positive regulation of nitric oxide biosynthetic process GO:0045429 9.73 IL1B TNF
21 positive regulation of phagocytosis GO:0050766 9.73 IL1B TNF
22 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.73 NLRP3 NOD1 TNF
23 positive regulation of JNK cascade GO:0046330 9.73 IL1B NOD1 NOD2 TNF
24 protein kinase B signaling GO:0043491 9.72 IL1B TNF
25 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.72 IL1B TNF
26 positive regulation of interleukin-1 beta secretion GO:0050718 9.72 NLRP3 NOD2
27 negative regulation of neurogenesis GO:0050768 9.71 IL1B TNF
28 positive regulation of interleukin-10 production GO:0032733 9.71 NOD2 TLR2
29 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.71 NOD1 NOD2
30 positive regulation of chemokine production GO:0032722 9.71 TLR2 TNF
31 positive regulation of stress-activated MAPK cascade GO:0032874 9.71 NOD1 NOD2
32 microglial cell activation GO:0001774 9.7 TLR2 TNF
33 negative regulation of lipid catabolic process GO:0050995 9.7 IL1B TNF
34 positive regulation of glial cell proliferation GO:0060252 9.7 IL1B TNF
35 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.7 IL1B TNF
36 lipopolysaccharide-mediated signaling pathway GO:0031663 9.7 IL1B TLR2 TNF
37 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.69 IL1B TNF
38 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 IL1B TNF
39 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.69 NOD2 TLR2
40 positive regulation of interleukin-1 beta production GO:0032731 9.68 NOD1 NOD2
41 cellular response to muramyl dipeptide GO:0071225 9.68 NOD1 NOD2
42 detection of bacterium GO:0016045 9.67 NOD1 NOD2
43 positive regulation of chemokine biosynthetic process GO:0045080 9.67 IL1B TNF
44 positive regulation of interleukin-8 production GO:0032757 9.67 IL1B NOD2 TLR2 TNF
45 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.66 NOD1 NOD2
46 regulation of establishment of endothelial barrier GO:1903140 9.66 IL1B TNF
47 cellular response to peptidoglycan GO:0071224 9.65 NLRP3 NOD2
48 positive regulation of neuroinflammatory response GO:0150078 9.65 IL1B TNF
49 positive regulation of type 2 immune response GO:0002830 9.65 NLRP3 NOD2
50 interleukin-1 beta production GO:0032611 9.63 IL1B NLRP3

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.43 NOD1 NOD2 TLR2
2 identical protein binding GO:0042802 9.43 MEFV MVK NLRP3 NOD1 TLR2 TNF
3 CARD domain binding GO:0050700 9.16 NOD1 NOD2
4 peptidoglycan binding GO:0042834 8.92 NLRP3 NOD1 NOD2 TLR2

Sources for Blau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....