MCID: BLS001
MIFTS: 60

Blau Syndrome

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

Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 53 12 49 24 71 36 28 13 51 14
Sarcoidosis, Early-Onset 53 71 36 28 13 69
Arthrocutaneouveal Granulomatosis 53 12 49 24 71
Jabs Syndrome 53 12 49 71
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 53 49 24
Acug 53 49 71
Granulomatosis, Familial Juvenile Systemic 53 49
Familial Juvenile Systemic Granulomatosis 24 71
Granulomatosis, Familial, Blau Type 53 49
Blaus 53 71
Eos 53 71
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 71
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 69
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 49
Arthrocutaneouveal Granulomatosis; Acug 53
Familial Granulomatosis, Blau Type 24
Pediatric Granulomatous Arthritis 24
Familial Granulomatosis Blau Type 71
Sarcoidosis, Early-Onset; Eos 53
Early-Onset Sarcoidosis 24

Characteristics:

OMIM:

53
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:



Summaries for Blau Syndrome

OMIM : 53 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 granulomatous dermatitis and arthritis, and has symptoms including arthralgia, dyspnea and fever. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Innate Immune System. Affiliated tissues include skin, eye and liver, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

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 : 24 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 : 49 Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis. It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea). Permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported. It is caused by mutations in the NOD2 gene and is inherited in an autosomal dominant manner. Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) mutations and occurs sporadically (in individuals with no history of the disorder in the family). Last updated: 5/5/2011

UniProtKB/Swiss-Prot : 71 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 : 72 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:

(showing 161, show less)
# Related Disease Score Top Affiliating Genes
1 granulomatous dermatitis 30.5 NOD2 TNF
2 arthritis 30.3 IL1B NOD2 TNF
3 crohn's disease 29.7 IL1B NOD2 TNF
4 asthma 28.9 IL1B NLRP3 NOD1 TNF
5 eosinophilia, familial 11.7
6 craniolenticulosutural dysplasia 11.2
7 phenylketonuria 11.0
8 aural atresia, multiple congenital anomalies, and mental retardation 10.9
9 ileocolitis 10.4 NOD2 TNF
10 streptococcal meningitis 10.3 NOD2 TNF
11 hidradenitis suppurativa 10.3 NOD2 TNF
12 hidradenitis 10.3 NOD2 TNF
13 polyposis, gastric 10.3 IL1B TNF
14 staphylococcal toxic shock syndrome 10.3 IL1B TNF
15 kashin-beck disease 10.3 IL1B TNF
16 hypersensitivity reaction type iv disease 10.3 NOD2 TNF
17 burns 10.3 IL1B TNF
18 ileitis 10.3 NOD2 TNF
19 laryngitis 10.3 IL1B TNF
20 cerebral artery occlusion 10.3 IL1B TNF
21 haemophilus influenzae 10.3 IL1B TNF
22 retinitis pigmentosa 60 10.3 IL1B TNF
23 acute graft versus host disease 10.3 NOD2 TNF
24 acute vascular insufficiency of intestine 10.3 IL1B TNF
25 actinic prurigo 10.3 IL1B TNF
26 poems syndrome 10.3 IL1B TNF
27 irritant dermatitis 10.3 IL1B TNF
28 inflammatory bowel disease 9 10.3 NOD1 NOD2
29 burning mouth syndrome 10.3 IL1B TNF
30 central nervous system vasculitis 10.3 IL1B TNF
31 dental pulp disease 10.3 IL1B TNF
32 osteosclerotic myeloma 10.3 IL1B TNF
33 lymphoproliferative syndrome, x-linked, 2 10.3 NOD1 NOD2
34 stachybotrys chartarum 10.3 IL1B TNF
35 jejunoileitis 10.3 IL1B TNF
36 eales disease 10.3 IL1B TNF
37 endometritis 10.3 IL1B TNF
38 pulpitis 10.3 IL1B TNF
39 scrub typhus 10.3 IL1B TNF
40 inflammatory bowel disease 1 10.3 NOD1 NOD2
41 joint disorders 10.3 IL1B TNF
42 lacrimal apparatus disease 10.3 IL1B TNF
43 pleural disease 10.3 IL1B TNF
44 middle ear disease 10.3 IL1B TNF
45 q fever 10.3 IL1B TNF
46 viral encephalitis 10.3 IL1B TNF
47 perinatal necrotizing enterocolitis 10.3 IL1B TNF
48 commensal bacterial infectious disease 10.3 IL1B TNF
49 acute respiratory distress syndrome 10.3 IL1B TNF
50 dengue shock syndrome 10.3 IL1B TNF
51 extrinsic cardiomyopathy 10.2 IL1B TNF
52 chikungunya 10.2 IL1B TNF
53 complex regional pain syndrome 10.2 IL1B TNF
54 leprosy 3 10.2 NOD2 TNF
55 uterine anomalies 10.2 IL1B TNF
56 keratoconjunctivitis sicca 10.2 IL1B TNF
57 bacterial vaginosis 10.2 IL1B TNF
58 idiopathic neutropenia 10.2 IL1B TNF
59 prostatitis 10.2 IL1B TNF
60 intracranial hypertension 10.2 IL1B TNF
61 leptospirosis 10.2 IL1B TNF
62 pyelonephritis 10.2 IL1B TNF
63 peptic ulcer disease 10.2 IL1B TNF
64 typhoid fever 10.2 IL1B TNF
65 appendicitis 10.2 IL1B TNF
66 uveitis 10.2
67 mycobacterium abscessus 10.2 NLRP3 TNF
68 tinea favosa 10.2 IL1B NLRP3
69 tonsillitis 10.2 IL1B TNF
70 intestinal obstruction 10.2 MVK NOD2
71 schnitzler syndrome 10.2 IL1B NLRP3
72 chronic recurrent multifocal osteomyelitis 10.2 IL1B NLRP3
73 aggressive periodontitis 10.2 IL1B TNF
74 neuritis 10.1 IL1B TNF
75 lyme disease 10.1 IL1B TNF
76 chorioamnionitis 10.1 IL1B TNF
77 exanthem 10.1 NLRP3 TNF
78 familial cold autoinflammatory syndrome 10.1 IL1B NLRP3
79 spondyloarthropathy 1 10.1 NOD2 TNF
80 female reproductive system disease 10.1 IL1B TNF
81 scoliosis, isolated 1 10.1
82 scoliosis 10.1
83 idiopathic scoliosis 10.1
84 pulmonary edema 10.1 IL1B TNF
85 atrophic gastritis 10.1 IL1B TNF
86 lig4 syndrome 10.1 NLRP3 NOD2
87 crohn's colitis 10.1 IL1B NOD2 TNF
88 lymphadenitis 10.1 IL1B NOD2 TNF
89 intestinal disease 10.1 IL1B NOD2 TNF
90 autoinflammation, panniculitis, and dermatosis syndrome 10.1 MEFV TNF
91 sarcoidosis 1 10.0 IL1B NOD2 TNF
92 gastrointestinal system disease 10.0 IL1B NOD2 TNF
93 psoriatic arthritis 10.0 IL1B NOD2 TNF
94 ulcerative colitis 10.0 IL1B NOD2 TNF
95 colitis 10.0 IL1B NOD2 TNF
96 erysipelas 10.0 MEFV TNF
97 allergic contact dermatitis 10.0 IL1B TNF
98 inflammatory bowel disease 3 10.0 NOD1 NOD2 TNF
99 duodenal ulcer 10.0 IL1B TNF
100 prostate cancer 10.0
101 hydrarthrosis 10.0 IL1B MEFV
102 pharyngitis 10.0 IL1B MEFV
103 pleurisy 10.0 MEFV TNF
104 helicobacter pylori infection 9.9 IL1B NOD1 TNF
105 bacterial meningitis 9.9 IL1B TNF
106 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
107 iritis 9.9
108 dermatitis 9.9
109 retinitis 9.9
110 brucellosis 9.9 MEFV TNF
111 erysipeloid 9.9 MEFV NLRP3
112 vulvar vestibulitis syndrome 9.9 IL1B NLRP3 TNF
113 aseptic meningitis 9.9 IL1B NLRP3 TNF
114 silicosis 9.9 IL1B NLRP3 TNF
115 pneumoconiosis 9.9 IL1B NLRP3 TNF
116 bone inflammation disease 9.9 IL1B NLRP3 TNF
117 gingivitis 9.9 IL1B TNF
118 meningitis 9.9 IL1B NLRP3 TNF
119 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 9.8
120 mycobacterium tuberculosis 1 9.8
121 spinal stenosis 9.8
122 extrapulmonary tuberculosis 9.8
123 salmonellosis 9.8
124 sarcoma 9.8
125 adenocarcinoma 9.8
126 breast adenocarcinoma 9.8
127 hemophilia 9.8
128 mevalonic aciduria 9.8 IL1B MVK NLRP3
129 pyoderma 9.8 MEFV NOD2 TNF
130 choroiditis 9.8
131 multifocal choroiditis 9.8
132 takayasu arteritis 9.8
133 retinal vasculitis 9.8
134 ichthyosis 9.8
135 renal clear cell carcinoma 9.8
136 vasculitis 9.8
137 neuropathy 9.8
138 aneurysm 9.8
139 systemic onset juvenile idiopathic arthritis 9.7 IL1B MEFV TNF
140 adult-onset still's disease 9.7 IL1B MEFV TNF
141 palindromic rheumatism 9.7 IL1B MEFV TNF
142 pericarditis 9.7 IL1B MEFV TNF
143 rheumatoid arthritis 9.7
144 primary bacterial infectious disease 9.7 IL1B MEFV TNF
145 hypersensitivity reaction disease 9.7 IL1B MEFV TNF
146 gastroenteritis 9.7 IL1B TNF
147 peritonitis 9.7 IL1B MEFV TNF
148 immune system disease 9.7 IL1B MEFV TNF
149 relapsing fever 9.7 MEFV MVK TNF
150 inflammatory bowel disease 9.6 IL1B NOD1 NOD2 TNF
151 psoriatic juvenile idiopathic arthritis 9.6 MEFV NLRP3 NOD2
152 familial cold autoinflammatory syndrome 1 9.6 IL1B MEFV NLRP3
153 muckle-wells syndrome 9.6 IL1B MEFV NLRP3
154 wells syndrome 9.6 IL1B MEFV NLRP3
155 behcet syndrome 9.4 IL1B MEFV NOD2 TNF
156 aphthous stomatitis 9.3 IL1B MEFV NLRP3 TNF
157 periodic fever, familial, autosomal dominant 9.2 MEFV MVK NLRP3 TNF
158 cervical adenitis 9.2 IL1B MEFV MVK NLRP3
159 cinca syndrome 9.2 IL1B MEFV MVK NLRP3
160 pyoderma gangrenosum 8.9 MEFV MVK NLRP3 NOD2 TNF
161 familial mediterranean fever 8.6 IL1B MEFV MVK NLRP3 NOD2 TNF

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:

53
Skeletal:
joint swelling
joint contractures
granulomatous synovitis
granulomatous arthritis
synovial cysts
more
SkeletalHands:
camptodactyly
flexion contractures of the fingers

SkeletalFeet:
flexion contractures of the toes

HeadAndNeckEyes:
glaucoma
uveitis
iritis
band keratopathy
cystoid macular edema
more
SkinNailsHairSkin:
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:

31 (showing 54, show less)
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 hallmark (90%) HP:0002829
2 dyspnea 31 occasional (7.5%) HP:0002094
3 fever 31 frequent (33%) HP:0001945
4 photophobia 31 frequent (33%) HP:0000613
5 joint swelling 31 hallmark (90%) HP:0001386
6 dry skin 31 frequent (33%) HP:0000958
7 hypertension 31 occasional (7.5%) HP:0000822
8 facial palsy 31 occasional (7.5%) HP:0010628
9 cataract 31 frequent (33%) HP:0000518
10 arthritis 31 HP:0001369
11 splenomegaly 31 occasional (7.5%) HP:0001744
12 ichthyosis 31 occasional (7.5%) HP:0008064
13 nephropathy 31 occasional (7.5%) HP:0000112
14 retinopathy 31 occasional (7.5%) HP:0000488
15 anemia 31 occasional (7.5%) HP:0001903
16 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
17 limitation of joint mobility 31 hallmark (90%) HP:0001376
18 skin ulcer 31 occasional (7.5%) HP:0200042
19 abnormality of the retinal vasculature 31 occasional (7.5%) HP:0008046
20 keratitis 31 hallmark (90%) HP:0000491
21 glaucoma 31 frequent (33%) HP:0000501
22 visual loss 31 occasional (7.5%) HP:0000572
23 xerostomia 31 occasional (7.5%) HP:0000217
24 erythema 31 hallmark (90%) HP:0010783
25 pericarditis 31 occasional (7.5%) HP:0001701
26 skin rash 31 hallmark (90%) HP:0000988
27 eczema 31 HP:0000964
28 papule 31 hallmark (90%) HP:0200034
29 camptodactyly of finger 31 frequent (33%) HP:0100490
30 flexion contracture of toe 31 HP:0005830
31 lymphadenopathy 31 occasional (7.5%) HP:0002716
32 abnormality of the liver 31 occasional (7.5%) HP:0001392
33 uveitis 31 HP:0000554
34 retrobulbar optic neuritis 31 occasional (7.5%) HP:0100654
35 erythema nodosum 31 frequent (33%) HP:0012219
36 hyperpigmentation of the skin 31 hallmark (90%) HP:0000953
37 stage 5 chronic kidney disease 31 occasional (7.5%) HP:0003774
38 abnormality of the cranial nerves 31 HP:0001291
39 iritis 31 HP:0001101
40 abnormality of the ear 31 HP:0000598
41 aortic aneurysm 31 occasional (7.5%) HP:0004942
42 band keratopathy 31 HP:0000585
43 synovitis 31 hallmark (90%) HP:0100769
44 cystoid macular edema 31 HP:0011505
45 large vessel vasculitis 31 occasional (7.5%) HP:0005310
46 iridocyclitis 31 hallmark (90%) HP:0001094
47 polyarticular arthritis 31 hallmark (90%) HP:0005764
48 posterior uveitis 31 hallmark (90%) HP:0012123
49 intermittent generalized erythematous papular rash 31 HP:0007432
50 tendonitis 31 HP:0025230
51 abnormal choroid morphology 31 occasional (7.5%) HP:0000610
52 nongranulomatous uveitis 31 HP:0007813
53 abnormal salivary gland morphology 31 occasional (7.5%) HP:0010286
54 clear cell renal cell carcinoma 31 occasional (7.5%) HP:0006770

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

25 (showing 2, show less)
# 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:

43 (showing 3, show less)
# 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 28 NOD2
2 Sarcoidosis, Early-Onset 28 NOD2

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

38
Skin, Eye, Liver, Kidney, Salivary Gland, Retina

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(showing 97, show less)
# Title Authors Year
1
The Challenge of Blau Syndrome. ( 29338849 )
2018
2
A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome. ( 29082556 )
2018
3
Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome. ( 28604349 )
2017
4
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. ( 28639104 )
2017
5
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. ( 28887115 )
2017
6
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. ( 28750667 )
2017
7
Pluripotent stem cell models of Blau syndrome reveal an IFN-I^-dependent inflammatory response in macrophages. ( 28587749 )
2017
8
PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME. ( 29210964 )
2017
9
Oral Macrolides for the Dermatologic Manifestations of Blau Syndrome. ( 28724114 )
2017
10
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. ( 28532706 )
2017
11
Blau syndrome with good Reponses to Tocilizumab: A case report and focused literature review. ( 29110911 )
2017
12
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function. ( 28836875 )
2017
13
Two Chinese pedigrees of Blau syndrome with thirteen affected members. ( 28721627 )
2017
14
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. ( 27874205 )
2016
15
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. ( 27419275 )
2016
16
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. ( 27625029 )
2016
17
A Case of Blau Syndrome with NOD2 E383K Mutation. ( 27339507 )
2016
18
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. ( 28018435 )
2016
19
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. ( 26606664 )
2016
20
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. ( 27403452 )
2016
21
Intractable leg ulcers in Blau syndrome. ( 26969879 )
2016
22
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. ( 27304707 )
2016
23
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. ( 26712281 )
2015
24
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. ( 26517420 )
2015
25
Somatic NOD2 mosaicism in Blau syndrome. ( 25724124 )
2015
26
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. ( 25429073 )
2015
27
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. ( 25829188 )
2015
28
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. ( 26509073 )
2015
29
A new mutation in blau syndrome. ( 25692065 )
2015
30
A case of blau syndrome. ( 24876985 )
2014
31
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. ( 25182201 )
2014
32
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. ( 25416713 )
2014
33
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. ( 25093298 )
2014
34
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. ( 24713464 )
2014
35
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
36
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). ( 25209167 )
2014
37
Blau syndrome and latent tubercular infection: an unresolved partnership. ( 24646037 )
2014
38
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. ( 25136265 )
2014
39
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. ( 23124805 )
2013
40
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. ( 23699845 )
2013
41
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? ( 22821420 )
2013
42
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. ( 23896186 )
2013
43
Blau syndrome-associated uveitis and the NOD2 gene. ( 24010719 )
2013
44
[The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. ( 23678609 )
2013
45
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. ( 22509093 )
2012
46
Immunohistochemical evidence of specific iris involvement in Blau syndrome. ( 23215732 )
2012
47
Blau syndrome, clinical and genetic aspects. ( 22884558 )
2012
48
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. ( 22464675 )
2012
49
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. ( 22142748 )
2011
50
Etanercept-induced myelopathy in a pediatric case of blau syndrome. ( 22937436 )
2011
51
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. ( 21320290 )
2011
52
Blau syndrome revisited. ( 21788900 )
2011
53
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. ( 21152214 )
2011
54
Blau syndrome. ( 20947513 )
2011
55
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. ( 21596301 )
2011
56
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. ( 20084402 )
2010
57
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. ( 20052476 )
2010
58
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. ( 20199415 )
2010
59
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. ( 20565245 )
2010
60
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. ( 20039400 )
2010
61
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. ( 19180500 )
2009
62
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. ( 19116920 )
2009
63
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. ( 18718560 )
2009
64
Interleukin-1beta suppression in Blau syndrome: comment on the article by Martin et al. ( 19644875 )
2009
65
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. ( 19822951 )
2009
66
Two pediatric cases of Blau syndrome. ( 20040255 )
2009
67
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. ( 19169908 )
2009
68
Leg ulcers: a new symptom of Blau syndrome? ( 18955195 )
2008
69
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? ( 18061972 )
2007
70
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. ( 17372104 )
2007
71
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. ( 17393391 )
2007
72
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. ( 17916199 )
2007
73
Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis. ( 20298285 )
2007
74
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. ( 17096091 )
2007
75
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. ( 17207093 )
2006
76
Blau syndrome associated with a CARD15/NOD2 mutation. ( 17157607 )
2006
77
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. ( 15693102 )
2005
78
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. ( 15459013 )
2005
79
Blau syndrome presenting with ichthyosis. ( 15670175 )
2005
80
Blau syndrome and related genetic disorders causing childhood arthritis. ( 16303101 )
2005
81
A new CARD15 mutation in Blau syndrome. ( 15812565 )
2005
82
Bupropion for Blau syndrome. ( 14962643 )
2004
83
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. ( 15554080 )
2004
84
Blau syndrome. ( 15051234 )
2004
85
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. ( 14522785 )
2003
86
Blau syndrome: a new kindred. ( 12894082 )
2003
87
CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. ( 12428248 )
2002
88
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. ( 12186634 )
2002
89
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. ( 12051637 )
2002
90
CARD15 mutations in Blau syndrome. ( 11528384 )
2001
91
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. ( 19078446 )
2000
92
The Blau syndrome gene is not a major risk factor for sarcoidosis. ( 10560124 )
1999
93
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. ( 9508240 )
1998
94
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. ( 9738733 )
1998
95
Liver involvement in familial granulomatous arthritis (Blau syndrome). ( 8882056 )
1996
96
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. ( 8394645 )
1993
97
Blau syndrome versus sarcoidosis. ( 1880674 )
1991

Variations for Blau Syndrome

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

71 (showing 11, show less)
# 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 (showing 10, show less)
# 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.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh37 Chromosome 16, 50756540: 50756540
3 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh37 Chromosome 16, 50745926: 50745926
4 NOD2 NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh37 Chromosome 16, 50744823: 50744823
5 NOD2 NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe) single nucleotide variant Pathogenic rs104895460 GRCh37 Chromosome 16, 50745227: 50745227
6 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh37 Chromosome 16, 50744822: 50744822
7 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774
8 NOD2 NM_022162.2(NOD2): c.1487A> T (p.His496Leu) single nucleotide variant Pathogenic rs104895472 GRCh37 Chromosome 16, 50745309: 50745309
9 NOD2 NM_022162.2(NOD2): c.1146C> G (p.Asp382Glu) single nucleotide variant Pathogenic rs104895476 GRCh37 Chromosome 16, 50744968: 50744968
10 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh37 Chromosome 16, 50744969: 50744969

Expression for Blau Syndrome

Search GEO for disease gene expression data for Blau Syndrome.

Pathways for Blau Syndrome

Pathways related to Blau Syndrome according to KEGG:

36
(showing 1, show less)
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

(showing 28, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 IL1B MEFV NLRP3 NOD1 NOD2 TNF
2
Show member pathways
12.34 IL1B NOD2 TNF
3 12.3 IL1B NOD1 TNF
4
Show member pathways
12.26 IL1B MEFV NLRP3 NOD1 NOD2 TNF
5
Show member pathways
11.98 IL1B NOD1 NOD2
6 11.86 IL1B NOD2 TNF
7
Show member pathways
11.82 IL1B NLRP3 TNF
8
Show member pathways
11.62 MEFV NLRP3 NOD1 NOD2
9 11.53 IL1B NOD2 TNF
10 11.37 IL1B TNF
11 11.34 IL1B NLRP3 NOD1 TNF
12 11.31 IL1B TNF
13 11.31 IL1B TNF
14 11.29 IL1B TNF
15 11.28 IL1B TNF
16 11.24 IL1B TNF
17
Show member pathways
11.22 IL1B TNF
18 11.14 NOD1 NOD2
19 11.11 IL1B TNF
20 11.1 IL1B TNF
21 11.05 IL1B TNF
22 11.03 IL1B TNF
23 11 IL1B TNF
24 10.91 IL1B NLRP3
25 10.84 NOD2 TNF
26 10.8 IL1B TNF
27 10.63 IL1B MEFV NLRP3 NOD1 NOD2
28 10.57 IL1B TNF

GO Terms for Blau Syndrome

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

(showing 52, show less)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.97 MEFV NLRP3 NOD1 NOD2
2 immune system process GO:0002376 9.96 MEFV NLRP3 NOD1 NOD2
3 protein deubiquitination GO:0016579 9.88 NLRP3 NOD1 NOD2
4 defense response to bacterium GO:0042742 9.87 NOD1 NOD2 TNF
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.86 NOD1 NOD2 TNF
6 defense response to Gram-positive bacterium GO:0050830 9.81 NLRP3 NOD1 TNF
7 negative regulation of inflammatory response GO:0050728 9.81 MEFV MVK NLRP3
8 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.79 NLRP3 NOD1 TNF
9 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 IL1B NOD1 NOD2 TNF
10 cellular response to organic cyclic compound GO:0071407 9.77 IL1B NOD2 TNF
11 protein oligomerization GO:0051259 9.77 NLRP3 NOD1 NOD2
12 inflammatory response GO:0006954 9.77 IL1B MEFV NLRP3 NOD1 TNF
13 regulation of inflammatory response GO:0050727 9.76 NLRP3 NOD2 TNF
14 defense response GO:0006952 9.73 NLRP3 NOD1 NOD2 TNF
15 positive regulation of tumor necrosis factor production GO:0032760 9.71 NOD1 NOD2
16 protein kinase B signaling GO:0043491 9.71 IL1B TNF
17 positive regulation of interferon-gamma production GO:0032729 9.71 IL1B TNF
18 JNK cascade GO:0007254 9.71 NOD1 NOD2 TNF
19 positive regulation of nitric oxide biosynthetic process GO:0045429 9.7 IL1B TNF
20 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.7 IL1B TNF
21 lipopolysaccharide-mediated signaling pathway GO:0031663 9.7 IL1B TNF
22 positive regulation of phagocytosis GO:0050766 9.69 IL1B TNF
23 positive regulation of interleukin-1 beta secretion GO:0050718 9.69 NLRP3 NOD2
24 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.68 NOD1 NOD2
25 positive regulation of NF-kappaB import into nucleus GO:0042346 9.68 IL1B TNF
26 positive regulation of stress-activated MAPK cascade GO:0032874 9.68 NOD1 NOD2
27 negative regulation of lipid catabolic process GO:0050995 9.67 IL1B TNF
28 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.67 IL1B TNF
29 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.67 NLRP3 NOD1 TNF
30 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.66 IL1B TNF
31 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 IL1B TNF
32 positive regulation of interleukin-1 beta production GO:0032731 9.65 NOD1 NOD2
33 detection of bacterium GO:0016045 9.65 NOD1 NOD2
34 positive regulation of chemokine biosynthetic process GO:0045080 9.64 IL1B TNF
35 regulation of establishment of endothelial barrier GO:1903140 9.63 IL1B TNF
36 positive regulation of interleukin-8 production GO:0032757 9.63 IL1B NOD2 TNF
37 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.62 NOD1 NOD2
38 activation of MAPK activity GO:0000187 9.62 IL1B NOD1 NOD2 TNF
39 positive regulation of type 2 immune response GO:0002830 9.61 NLRP3 NOD2
40 cellular response to peptidoglycan GO:0071224 9.61 NLRP3 NOD2
41 interleukin-1 beta production GO:0032611 9.58 IL1B NLRP3
42 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.58 NOD1 NOD2 TNF
43 cellular response to muramyl dipeptide GO:0071225 9.57 NOD1 NOD2
44 positive regulation of fever generation GO:0031622 9.56 IL1B TNF
45 positive regulation of JNK cascade GO:0046330 9.56 IL1B NOD1 NOD2 TNF
46 sequestering of triglyceride GO:0030730 9.55 IL1B TNF
47 cytokine secretion involved in immune response GO:0002374 9.52 NLRP3 NOD2
48 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.51 IL1B TNF
49 positive regulation of interleukin-6 production GO:0032755 9.46 IL1B NOD1 NOD2 TNF
50 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.35 IL1B NLRP3 NOD1 NOD2 TNF
51 detection of biotic stimulus GO:0009595 8.8 NLRP3 NOD1 NOD2
52 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 IL1B NLRP3 NOD2 TNF

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

(showing 3, show less)
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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