BLAUS
MCID: BLS001
MIFTS: 60

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 57 12 53 25 75 37 29 13 55 6 15 40
Sarcoidosis, Early-Onset 57 75 37 29 13 6 40 73
Arthrocutaneouveal Granulomatosis 57 12 53 25 75
Jabs Syndrome 57 12 53 75
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 57 53 25
Acug 57 53 75
Granulomatosis, Familial Juvenile Systemic 57 53
Familial Juvenile Systemic Granulomatosis 25 75
Granulomatosis, Familial, Blau Type 57 53
Blaus 57 75
Eos 57 75
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 75
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 73
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 53
Arthrocutaneouveal Granulomatosis; Acug 57
Familial Granulomatosis, Blau Type 25
Pediatric Granulomatous Arthritis 25
Familial Granulomatosis Blau Type 75
Sarcoidosis, Early-Onset; Eos 57
Early-Onset Sarcoidosis 25

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blau Syndrome

OMIM : 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)

MalaCards based summary : Blau Syndrome, also known as sarcoidosis, early-onset, is related to arthritis and granulomatous dermatitis. 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 hypertension and facial palsy

Disease Ontology : 12 An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes.

Genetics Home Reference : 25 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.

NIH Rare Diseases : 53 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 : 75 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 : 76 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 188)
# Related Disease Score Top Affiliating Genes
1 arthritis 30.6 TNF NOD2 IL1B
2 granulomatous dermatitis 30.4 TNF NOD2
3 sarcoidosis 1 29.8 TNF NOD2 IL1B
4 asthma 29.4 TNF NOD1 NLRP3 IL1B
5 familial mediterranean fever 28.9 TNF NOD2 NLRP3 MVK MEFV IL1B
6 craniolenticulosutural dysplasia 11.9
7 eosinophilia, familial 11.8
8 phenylketonuria 11.1
9 aural atresia, multiple congenital anomalies, and mental retardation 11.1
10 scoliosis 10.5
11 uveitis 10.4
12 idiopathic scoliosis 10.4
13 scoliosis, isolated 1 10.4
14 ileocolitis 10.2 TNF NOD2
15 ileitis 10.2 TNF NOD2
16 streptococcal meningitis 10.2 TNF NOD2
17 spondylarthropathy 10.2 TNF NOD2
18 orofacial granulomatosis 10.2 TNF NOD2
19 hidradenitis 10.2 TNF NOD2
20 hidradenitis suppurativa 10.2 TNF NOD2
21 melkersson-rosenthal syndrome 10.2 TNF NOD2
22 exudative glomerulonephritis 10.2 TNF IL1B
23 hypersensitivity reaction type iv disease 10.2 TNF NOD2
24 acute graft versus host disease 10.2 TNF NOD2
25 staphylococcal toxic shock syndrome 10.2 TNF IL1B
26 rheumatoid lung disease 10.2 TNF IL1B
27 kashin-beck disease 10.2 TNF IL1B
28 burns 10.2 TNF IL1B
29 laryngitis 10.2 TNF IL1B
30 glossitis 10.2 TNF IL1B
31 haemophilus influenzae 10.2 TNF IL1B
32 opisthorchiasis 10.2 TNF IL1B
33 congenital cytomegalovirus 10.2 TNF IL1B
34 acute vascular insufficiency of intestine 10.2 TNF IL1B
35 irritant dermatitis 10.2 TNF IL1B
36 retinitis pigmentosa 60 10.2 TNF IL1B
37 osteosclerotic myeloma 10.2 TNF IL1B
38 actinic prurigo 10.2 TNF IL1B
39 periapical periodontitis 10.2 TNF IL1B
40 poems syndrome 10.2 TNF IL1B
41 stachybotrys chartarum 10.2 TNF IL1B
42 central nervous system vasculitis 10.2 TNF IL1B
43 inflammatory bowel disease 9 10.2 NOD2 NOD1
44 jejunoileitis 10.2 TNF IL1B
45 lymphoproliferative syndrome, x-linked, 2 10.2 NOD2 NOD1
46 dental pulp disease 10.2 TNF IL1B
47 endometrial disease 10.2 TNF IL1B
48 eales disease 10.1 TNF IL1B
49 primary systemic mycosis 10.1 TNF IL1B
50 uveal disease 10.1 TNF NOD2

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



Diseases related to Blau Syndrome

Symptoms & Phenotypes for Blau Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Blau Syndrome:

32 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 occasional (7.5%) HP:0000822
2 facial palsy 32 occasional (7.5%) HP:0010628
3 cataract 32 frequent (33%) HP:0000518
4 arthritis 32 HP:0001369
5 splenomegaly 32 occasional (7.5%) HP:0001744
6 ichthyosis 32 occasional (7.5%) HP:0008064
7 nephropathy 32 occasional (7.5%) HP:0000112
8 retinopathy 32 occasional (7.5%) HP:0000488
9 photophobia 32 frequent (33%) HP:0000613
10 fever 32 frequent (33%) HP:0001945
11 joint swelling 32 hallmark (90%) HP:0001386
12 arthralgia 32 hallmark (90%) HP:0002829
13 dyspnea 32 occasional (7.5%) HP:0002094
14 anemia 32 occasional (7.5%) HP:0001903
15 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
16 limitation of joint mobility 32 hallmark (90%) HP:0001376
17 dry skin 32 frequent (33%) HP:0000958
18 skin ulcer 32 occasional (7.5%) HP:0200042
19 abnormality of the retinal vasculature 32 occasional (7.5%) HP:0008046
20 keratitis 32 hallmark (90%) HP:0000491
21 glaucoma 32 frequent (33%) HP:0000501
22 visual loss 32 occasional (7.5%) HP:0000572
23 xerostomia 32 occasional (7.5%) HP:0000217
24 erythema 32 hallmark (90%) HP:0010783
25 pericarditis 32 occasional (7.5%) HP:0001701
26 skin rash 32 hallmark (90%) HP:0000988
27 eczema 32 HP:0000964
28 papule 32 hallmark (90%) HP:0200034
29 camptodactyly of finger 32 frequent (33%) HP:0100490
30 flexion contracture of toe 32 HP:0005830
31 lymphadenopathy 32 occasional (7.5%) HP:0002716
32 abnormality of the liver 32 occasional (7.5%) HP:0001392
33 uveitis 32 HP:0000554
34 retrobulbar optic neuritis 32 occasional (7.5%) HP:0100654
35 erythema nodosum 32 frequent (33%) HP:0012219
36 hyperpigmentation of the skin 32 hallmark (90%) HP:0000953
37 stage 5 chronic kidney disease 32 occasional (7.5%) HP:0003774
38 iritis 32 HP:0001101
39 abnormality of the ear 32 HP:0000598
40 aortic aneurysm 32 occasional (7.5%) HP:0004942
41 band keratopathy 32 HP:0000585
42 synovitis 32 hallmark (90%) HP:0100769
43 cystoid macular edema 32 HP:0011505
44 large vessel vasculitis 32 occasional (7.5%) HP:0005310
45 iridocyclitis 32 hallmark (90%) HP:0001094
46 polyarticular arthritis 32 hallmark (90%) HP:0005764
47 posterior uveitis 32 hallmark (90%) HP:0012123
48 intermittent generalized erythematous papular rash 32 HP:0007432
49 tendonitis 32 HP:0025230
50 abnormal cranial nerve morphology 32 HP:0001291

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 IL1B MEFV NLRP3 NOD1 NOD2 TNF
2 immune system MP:0005387 9.43 IL1B MEFV NLRP3 NOD1 NOD2 TNF
3 skeleton MP:0005390 9.02 IL1B MEFV NLRP3 NOD2 TNF

Drugs & Therapeutics for Blau Syndrome

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 29 NOD2
2 Sarcoidosis, Early-Onset 29

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

41
Skin, Eye, Liver, Kidney, Bone, Lymph Node, Salivary Gland

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(show top 50) (show all 101)
# Title Authors Year
1
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
2
A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome. ( 29082556 )
2018
3
The Challenge of Blau Syndrome. ( 29338849 )
2018
4
S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome. ( 29635517 )
2018
5
S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis. ( 30406853 )
2018
6
Two Chinese pedigrees of Blau syndrome with thirteen affected members. ( 28721627 )
2018
7
Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab. ( 30249847 )
2018
8
PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME. ( 29210964 )
2017
9
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. ( 28639104 )
2017
10
Blau syndrome with good Reponses to Tocilizumab: A case report and focused literature review. ( 29110911 )
2017
11
Oral Macrolides for the Dermatologic Manifestations of Blau Syndrome. ( 28724114 )
2017
12
Pluripotent stem cell models of Blau syndrome reveal an IFN-I^-dependent inflammatory response in macrophages. ( 28587749 )
2017
13
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. ( 28750667 )
2017
14
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. ( 28887115 )
2017
15
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function. ( 28836875 )
2017
16
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. ( 28532706 )
2017
17
Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome. ( 28604349 )
2017
18
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. ( 27304707 )
2016
19
A Case of Blau Syndrome with NOD2 E383K Mutation. ( 27339507 )
2016
20
Intractable leg ulcers in Blau syndrome. ( 26969879 )
2016
21
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. ( 27625029 )
2016
22
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. ( 27419275 )
2016
23
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. ( 28018435 )
2016
24
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. ( 27403452 )
2016
25
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. ( 26606664 )
2016
26
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. ( 27874205 )
2016
27
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. ( 26509073 )
2015
28
Somatic NOD2 mosaicism in Blau syndrome. ( 25724124 )
2015
29
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. ( 25829188 )
2015
30
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. ( 25429073 )
2015
31
A new mutation in blau syndrome. ( 25692065 )
2015
32
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. ( 26712281 )
2015
33
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. ( 26517420 )
2015
34
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. ( 25136265 )
2014
35
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. ( 24713464 )
2014
36
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. ( 25182201 )
2014
37
A case of blau syndrome. ( 24876985 )
2014
38
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. ( 25416713 )
2014
39
A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination. ( 25381727 )
2014
40
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). ( 25209167 )
2014
41
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. ( 25093298 )
2014
42
Blau syndrome and latent tubercular infection: an unresolved partnership. ( 24646037 )
2014
43
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? ( 22821420 )
2013
44
[The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. ( 23678609 )
2013
45
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. ( 23124805 )
2013
46
Blau syndrome-associated uveitis and the NOD2 gene. ( 24010719 )
2013
47
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. ( 23699845 )
2013
48
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. ( 23896186 )
2013
49
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. ( 22509093 )
2012
50
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. ( 22464675 )
2012

Variations for Blau Syndrome

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

75 (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 423)
# 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 GRCh37 Chromosome 16, 50745188: 50745188
24 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 GRCh38 Chromosome 16, 50711277: 50711277
25 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 NCBI36 Chromosome 16, 49302689: 49302689
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:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 IL1B MEFV NLRP3 NOD1 NOD2 TNF
2
Show member pathways
12.48 IL1B MEFV NLRP3 NOD1 NOD2 TNF
3
Show member pathways
12.35 IL1B NOD2 TNF
4 12.3 IL1B NOD1 TNF
5
Show member pathways
12 IL1B NOD1 NOD2
6 11.89 IL1B NOD2 TNF
7
Show member pathways
11.85 IL1B NLRP3 TNF
8
Show member pathways
11.82 IL1B NLRP3 TNF
9
Show member pathways
11.62 MEFV NLRP3 NOD1 NOD2
10 11.54 IL1B NOD2 TNF
11 11.38 IL1B TNF
12 11.32 IL1B TNF
13 11.32 IL1B TNF
14 11.3 IL1B TNF
15 11.29 IL1B TNF
16 11.25 IL1B TNF
17
Show member pathways
11.22 IL1B TNF
18 11.15 NOD1 NOD2
19 11.14 IL1B NLRP3 NOD1 TNF
20 11.12 IL1B TNF
21 11.11 IL1B TNF
22 11.06 IL1B TNF
23 11.04 IL1B TNF
24 11 IL1B TNF
25 10.92 IL1B NLRP3
26 10.86 NOD2 TNF
27 10.82 IL1B TNF
28 10.63 IL1B MEFV NLRP3 NOD1 NOD2
29 10.57 IL1B TNF

GO Terms for Blau Syndrome

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.99 MEFV NLRP3 NOD1 NOD2
2 innate immune response GO:0045087 9.97 MEFV NLRP3 NOD1 NOD2
3 defense response to bacterium GO:0042742 9.88 NOD1 NOD2 TNF
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.87 IL1B NOD1 NOD2 TNF
5 negative regulation of inflammatory response GO:0050728 9.83 MEFV MVK NLRP3
6 defense response to Gram-positive bacterium GO:0050830 9.83 NLRP3 NOD1 TNF
7 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.81 NLRP3 NOD1 TNF
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.8 IL1B NOD1 NOD2 TNF
9 protein complex oligomerization GO:0051259 9.79 NLRP3 NOD1 NOD2
10 cellular response to lipopolysaccharide GO:0071222 9.78 IL1B NLRP3 NOD2 TNF
11 cellular response to organic cyclic compound GO:0071407 9.77 IL1B NOD2 TNF
12 regulation of inflammatory response GO:0050727 9.77 NLRP3 NOD2 TNF
13 inflammatory response GO:0006954 9.77 IL1B MEFV NLRP3 NOD1 TNF
14 defense response GO:0006952 9.73 NLRP3 NOD1 NOD2 TNF
15 positive regulation of tumor necrosis factor production GO:0032760 9.72 NOD1 NOD2
16 positive regulation of interferon-gamma production GO:0032729 9.72 IL1B TNF
17 positive regulation of nitric oxide biosynthetic process GO:0045429 9.72 IL1B TNF
18 positive regulation of JUN kinase activity GO:0043507 9.71 IL1B TNF
19 positive regulation of phagocytosis GO:0050766 9.71 IL1B TNF
20 protein kinase B signaling GO:0043491 9.71 IL1B TNF
21 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.71 IL1B TNF
22 lipopolysaccharide-mediated signaling pathway GO:0031663 9.71 IL1B TNF
23 JNK cascade GO:0007254 9.71 NOD1 NOD2 TNF
24 activation of MAPK activity GO:0000187 9.71 IL1B NOD1 NOD2 TNF
25 positive regulation of interleukin-1 beta secretion GO:0050718 9.7 NLRP3 NOD2
26 negative regulation of neurogenesis GO:0050768 9.7 IL1B TNF
27 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.7 NOD1 NOD2
28 interleukin-1-mediated signaling pathway GO:0070498 9.7 IL1B NOD1 NOD2
29 positive regulation of stress-activated MAPK cascade GO:0032874 9.69 NOD1 NOD2
30 negative regulation of lipid catabolic process GO:0050995 9.69 IL1B TNF
31 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.69 NLRP3 NOD1 TNF
32 positive regulation of glial cell proliferation GO:0060252 9.68 IL1B TNF
33 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.68 IL1B TNF
34 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.68 IL1B TNF
35 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.68 IL1B TNF
36 positive regulation of interleukin-1 beta production GO:0032731 9.67 NOD1 NOD2
37 cellular response to muramyl dipeptide GO:0071225 9.67 NOD1 NOD2
38 detection of bacterium GO:0016045 9.66 NOD1 NOD2
39 positive regulation of chemokine biosynthetic process GO:0045080 9.65 IL1B TNF
40 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.65 NOD1 NOD2
41 regulation of establishment of endothelial barrier GO:1903140 9.64 IL1B TNF
42 cellular response to peptidoglycan GO:0071224 9.63 NLRP3 NOD2
43 positive regulation of neuroinflammatory response GO:0150078 9.63 IL1B TNF
44 positive regulation of interleukin-8 production GO:0032757 9.63 IL1B NOD2 TNF
45 positive regulation of type 2 immune response GO:0002830 9.62 NLRP3 NOD2
46 positive regulation of JNK cascade GO:0046330 9.62 IL1B NOD1 NOD2 TNF
47 interleukin-1 beta production GO:0032611 9.61 IL1B NLRP3
48 positive regulation of fever generation GO:0031622 9.61 IL1B TNF
49 chronic inflammatory response to antigenic stimulus GO:0002439 9.58 IL1B TNF
50 sequestering of triglyceride GO:0030730 9.58 IL1B TNF

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 MEFV MVK NLRP3 NOD1 TNF
2 CARD domain binding GO:0050700 9.16 NOD1 NOD2
3 peptidoglycan binding GO:0042834 8.8 NLRP3 NOD1 NOD2

Sources for Blau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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