MCID: BLS001
MIFTS: 56

Blau Syndrome malady

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

Aliases & Classifications for Blau Syndrome

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Aliases & Descriptions for Blau Syndrome:

Name: Blau Syndrome 51 11 47 24 25 69 12 49 13
Arthrocutaneouveal Granulomatosis 11 47 25 69
Jabs Syndrome 11 47 69
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 47 25
Familial Juvenile Systemic Granulomatosis 25 69
Blaus 69 26
Acug 47 69
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 69
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 67
 
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 47
Granulomatosis, Familial Juvenile Systemic 47
Granulomatosis, Familial, Blau Type 47
Familial Granulomatosis, Blau Type 25
Pediatric Granulomatous Arthritis 25
Familial Granulomatosis Blau Type 69
Sarcoidosis, Early-Onset 67
Early-Onset Sarcoidosis 25

Characteristics:

HPO:

63
blau syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 186580
Disease Ontology11 DOID:0050678
NCIt44 C116794
MedGen36 C1861303

Summaries for Blau Syndrome

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NIH Rare Diseases:47 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

MalaCards based summary: Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to craniolenticulosutural dysplasia and sarcoidosis, early-onset, and has symptoms including skin rash, hypermelanotic macule and arthritis. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways are Canonical NF-kappaB pathway and IL-10 Pathway. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are skeleton and hematopoietic system.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:69 Blau syndrome: A rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.

Wikipedia:70 In 1985 Edward Blau, a pediatrician in Marshfield Wisconsin, reported a family that over four... more...

Description from OMIM:51 186580

Related Diseases for Blau Syndrome

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Diseases related to Blau Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 154)
idRelated DiseaseScoreTop Affiliating Genes
1craniolenticulosutural dysplasia11.5
2sarcoidosis, early-onset11.4
3phenylketonuria10.8
4aural atresia, multiple congenital anomalies, and mental retardation10.8
5acneiform dermatitis10.5NOD2, TNF
6crohn's colitis10.5NOD2, TNF
7phlyctenulosis10.5NOD2, TNF
8oropharynx cancer10.5NOD2, TNF
9spondylohypoplasia, arthrogryposis and popliteal pterygium10.5NOD2, TNF
10capillary lymphangioma10.5NOD2, TNF
11female reproductive system disease10.5NOD2, TNF
12uterine corpus endometrial stromal sarcoma10.4NOD2, TNF
13gastroduodenal crohn's disease10.4NOD2, TNF
14chromosome 9p deletion syndrome10.4NOD2, TNF
15lacrimal system cancer10.4NOD2, TNF
16thyroid malformation10.4IL1B, TNF
17hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss10.4IL1B, TNF
18baetz-greenwalt syndrome10.4IL1B, TNF
19pulmonary hypertension10.4IL1B, TNF
20scrotum paget's disease10.4IL1B, TNF
21cartilage disease10.4IL1B, TNF
22hypothyroidism10.4IL1B, TNF
23autoimmune polyendocrine syndrome10.4IL1B, TNF
24ileocolitis10.4IL1B, TNF
25rectosigmoid junction neoplasm10.4IL1B, TNF
26skin disease10.4IL1B, TNF
27scarlet fever10.4IL1B, TNF
28non-secretory myeloma10.4IL1B, TNF
29spastic paraplegia-paget disease of bone syndrome10.4IL1B, TNF
30paraphimosis10.4IL1B, TNF
31qualitative platelet defect10.4IL1B, TNF
32sterility due to immotile flagella10.4IL1B, TNF
33burns10.4IL1B, TNF
34orbital lymphangioma10.4IL1B, TNF
35pseudoretinitis pigmentosa10.4IL1B, TNF
36paraneoplastic polyneuropathy10.4IL1B, TNF
37scn8a encephalopathy10.4IL1B, TNF
38thoracic aortic aneurysm10.4IL1B, TNF
39ampulla of vater neoplasm10.4IL1B, TNF
40foodborne botulism10.4IL1B, TNF
41inner ear cancer10.4IL1B, TNF
42keloids10.4IL1B, TNF
43accessory nerve disease10.4IL1B, TNF
44osmotic diarrhea10.4IL1B, TNF
45oesophagostomiasis10.4IL1B, TNF
46tibialis tendinitis10.4IL1B, TNF
47bartonellosis10.4IL1B, TNF
48gastric dilatation10.4IL1B, TNF
49kidney angiomyolipoma10.4IL1B, TNF
50ehlers-danlos syndrome, musculocontractural type10.4IL1B, TNF

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



Diseases related to blau syndrome

Symptoms for Blau Syndrome

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Symptoms by clinical synopsis from OMIM:

186580

Clinical features from OMIM:

186580

Human phenotypes related to Blau Syndrome:

 63 (show all 48)
id Description HPO Frequency HPO Source Accession
1 skin rash63 hallmark (90%) HP:0000988
2 hypermelanotic macule63 hallmark (90%) HP:0001034
3 arthritis63 hallmark (90%) HP:0001369
4 limitation of joint mobility63 hallmark (90%) HP:0001376
5 joint swelling63 hallmark (90%) HP:0001386
6 arthralgia63 hallmark (90%) HP:0002829
7 glaucoma63 typical (50%) HP:0000501
8 cataract63 typical (50%) HP:0000518
9 photophobia63 typical (50%) HP:0000613
10 dry skin63 typical (50%) HP:0000958
11 abnormality of temperature regulation63 typical (50%) HP:0004370
12 camptodactyly of finger63 typical (50%) HP:0100490
13 renal insufficiency63 occasional (7.5%) HP:0000083
14 nephropathy63 occasional (7.5%) HP:0000112
15 xerostomia63 occasional (7.5%) HP:0000217
16 retinopathy63 occasional (7.5%) HP:0000488
17 visual impairment63 occasional (7.5%) HP:0000505
18 optic atrophy63 occasional (7.5%) HP:0000648
19 hypertension63 occasional (7.5%) HP:0000822
20 choroideremia63 occasional (7.5%) HP:0001139
21 abnormality of the liver63 occasional (7.5%) HP:0001392
22 abnormality of the pericardium63 occasional (7.5%) HP:0001697
23 splenomegaly63 occasional (7.5%) HP:0001744
24 anemia63 occasional (7.5%) HP:0001903
25 subcutaneous hemorrhage63 occasional (7.5%) HP:0001933
26 morphological abnormality of the central nervous system63 occasional (7.5%) HP:0002011
27 pulmonary hypertension63 occasional (7.5%) HP:0002092
28 respiratory insufficiency63 occasional (7.5%) HP:0002093
29 vasculitis63 occasional (7.5%) HP:0002633
30 lymphadenopathy63 occasional (7.5%) HP:0002716
31 dilatation of the ascending aorta63 occasional (7.5%) HP:0005111
32 ichthyosis63 occasional (7.5%) HP:0008064
33 renal neoplasm63 occasional (7.5%) HP:0009726
34 abnormality of the salivary glands63 occasional (7.5%) HP:0010286
35 facial palsy63 occasional (7.5%) HP:0010628
36 retrobulbar optic neuritis63 occasional (7.5%) HP:0100654
37 skin ulcer63 occasional (7.5%) HP:0200042
38 uveitis63 HP:0000554
39 band keratopathy63 HP:0000585
40 abnormality of the ear63 HP:0000598
41 eczema63 HP:0000964
42 iritis63 HP:0001101
43 abnormality of the cranial nerves63 HP:0001291
44 flexion contracture of toe63 HP:0005830
45 intermittent generalized erythematous papular rash63 HP:0007432
46 nongranulomatous uveitis63 HP:0007813
47 cystoid macular edema63 HP:0011505
48 synovitis63 HP:0100769

UMLS symptoms related to Blau Syndrome:


exanthema, joint swelling, macular rash, erythema scarlatiniforme, ciliary hyperaemia, mucocutaneous rash, nodular rash

Drugs & Therapeutics for Blau Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
nivolumabapproved326946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pattern of Use and Safety/Effectiveness of Nivolumab in Routine Oncology PracticeRecruitingNCT02847728

Search NIH Clinical Center for Blau Syndrome

Genetic Tests for Blau Syndrome

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Genetic tests related to Blau Syndrome:

id Genetic test Affiliating Genes
1 Blau Syndrome26 24 NOD2

Anatomical Context for Blau Syndrome

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MalaCards organs/tissues related to Blau Syndrome:

35
Skin, Eye, Heart, Liver, Salivary gland

Animal Models for Blau Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Blau Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6IL1B, MEFV, NLRP3, NOD2, TNF
2MP:00053978.1IL1B, MEFV, NLRP3, NOD1, NOD2, TNF
3MP:00053878.1IL1B, MEFV, NLRP3, NOD1, NOD2, TNF

Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. (28018435)
2016
2
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. (27625029)
2016
3
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. (27403452)
2016
4
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. (27304707)
2016
5
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. (27874205)
2016
6
Somatic NOD2 mosaicism in Blau syndrome. (25724124)
2015
7
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. (25429073)
2015
8
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. (26517420)
2015
9
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. (25829188)
2015
10
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
11
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
12
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
13
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. (25136265)
2014
14
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. (25093298)
2014
15
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. (25416713)
2014
16
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
17
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
18
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
19
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
20
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
21
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
22
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
23
Blau syndrome revisited. (21788900)
2011
24
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
25
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
26
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
27
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
28
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
29
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
30
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
31
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
32
Interleukin-1beta suppression in Blau syndrome: comment on the article by Martin et al. (19644875)
2009
33
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? (18061972)
2007
34
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
35
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. (17393391)
2007
36
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. (17096091)
2007
37
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
38
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. (17372104)
2007
39
Blau syndrome associated with a CARD15/NOD2 mutation. (17157607)
2006
40
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. (17207093)
2006
41
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
42
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. (15554080)
2004
43
Bupropion for Blau syndrome. (14962643)
2004
44
Blau syndrome: a new kindred. (12894082)
2003
45
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. (12051637)
2002
46
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000
47
The Blau syndrome gene is not a major risk factor for sarcoidosis. (10560124)
1999
48
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. (9738733)
1998
49
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. (9508240)
1998
50
Liver involvement in familial granulomatous arthritis (Blau syndrome). (8882056)
1996

Variations for Blau Syndrome

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

69
id Symbol AA change Variation ID SNP ID
1NOD2p.Arg334GlnVAR_012676rs104895461
2NOD2p.Arg334TrpVAR_012677rs104895462
3NOD2p.Leu469PheVAR_012685rs104895460
4NOD2p.Glu383LysVAR_023823rs104895477
5NOD2p.Thr605AsnVAR_065228
6NOD2p.Pro507SerVAR_073180

Clinvar genetic disease variations for Blau Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOD2NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln)SNVPathogenicrs104895461GRCh37Chr 16, 50744823: 50744823
2NOD2NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe)SNVPathogenicrs104895460GRCh37Chr 16, 50745227: 50745227
3NOD2NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp)SNVPathogenicrs104895462GRCh37Chr 16, 50744822: 50744822
4NOD2NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys)SNVPathogenicrs104895477GRCh37Chr 16, 50744969: 50744969

Expression for genes affiliated with Blau Syndrome

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Search GEO for disease gene expression data for Blau Syndrome.

Pathways for genes affiliated with Blau Syndrome

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

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.7NOD2, TNF
29.6IL1B, TNF
39.6IL1B, TNF
4
Show member pathways
9.6IL1B, TNF
59.6IL1B, TNF
69.6IL1B, TNF
79.6IL1B, TNF
89.6IL1B, TNF
99.6IL1B, TNF
109.6IL1B, TNF
119.6IL1B, TNF
129.2IL1B, NOD2, TNF
139.2IL1B, NOD2, TNF
14
Show member pathways
9.0IL1B, NOD1, NOD2
15
Show member pathways
9.0IL1B, NOD1, NOD2
169.0IL1B, NOD1, TNF
178.5IL1B, NLRP3, NOD1, TNF
18
Show member pathways
8.1IL1B, NLRP3, NOD1, NOD2, TNF
19
Show member pathways
7.3IL1B, MEFV, NLRP3, NOD1, NOD2, TNF
20
Show member pathways
7.3IL1B, MEFV, NLRP3, NOD1, NOD2, TNF

GO Terms for genes affiliated with Blau Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.2IL1B, MEFV, MVK, NLRP3, NOD1, NOD2

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

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of calcidiol 1-monooxygenase activityGO:006055910.3IL1B, TNF
2positive regulation of membrane protein ectodomain proteolysisGO:005104410.3IL1B, TNF
3sequestering of triglycerideGO:003073010.3IL1B, TNF
4chronic inflammatory response to antigenic stimulusGO:000243910.3IL1B, TNF
5regulation of establishment of endothelial barrierGO:190314010.3IL1B, TNF
6positive regulation of chemokine biosynthetic processGO:004508010.3IL1B, TNF
7positive regulation of NF-kappaB import into nucleusGO:004234610.2IL1B, TNF
8positive regulation of interferon-gamma productionGO:003272910.2IL1B, TNF
9protein kinase B signalingGO:004349110.2IL1B, TNF
10lipopolysaccharide-mediated signaling pathwayGO:003166310.2IL1B, TNF
11positive regulation of heterotypic cell-cell adhesionGO:003411610.2IL1B, TNF
12positive regulation of fever generationGO:003162210.2IL1B, TNF
13positive regulation of interleukin-1 beta secretionGO:005071810.2NLRP3, NOD2
14positive regulation of type 2 immune responseGO:000283010.2NLRP3, NOD2
15negative regulation of lipid catabolic processGO:005099510.2IL1B, TNF
16positive regulation of interleukin-1 beta productionGO:003273110.2NOD1, NOD2
17cellular response to muramyl dipeptideGO:007122510.2NOD1, NOD2
18negative regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124010.2IL1B, TNF
19regulation of I-kappaB kinase/NF-kappaB signalingGO:004312210.2IL1B, TNF
20positive regulation of JUN kinase activityGO:004350710.2IL1B, TNF
21interleukin-1 beta productionGO:003261110.2IL1B, NLRP3
22positive regulation of stress-activated MAPK cascadeGO:003287410.1NOD1, NOD2
23detection of bacteriumGO:001604510.1NOD1, NOD2
24positive regulation of dendritic cell antigen processing and presentationGO:000260610.1NOD1, NOD2
25positive regulation of tumor necrosis factor productionGO:003276010.1NOD1, NOD2
26nucleotide-binding oligomerization domain containing signaling pathwayGO:007042310.1NOD1, NOD2
27positive regulation of nitric oxide biosynthetic processGO:00454299.8IL1B, TNF
28positive regulation of NIK/NF-kappaB signalingGO:19012249.7NOD1, NOD2, TNF
29detection of biotic stimulusGO:00095959.7NLRP3, NOD1, NOD2
30positive regulation of phagocytosisGO:00507669.7IL1B, TNF
31JNK cascadeGO:00072549.7NOD1, NOD2, TNF
32cellular response to organic cyclic compoundGO:00714079.6IL1B, NOD2, TNF
33positive regulation of interleukin-8 productionGO:00327579.6IL1B, NOD2, TNF
34defense response to bacteriumGO:00427429.5NOD1, NOD2, TNF
35positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.3NLRP3, NOD1, TNF
36negative regulation of inflammatory responseGO:00507289.2MEFV, MVK, NLRP3
37positive regulation of JNK cascadeGO:00463309.2IL1B, NOD1, NOD2, TNF
38positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.2IL1B, NOD1, NOD2, TNF
39activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.1NLRP3, NOD1, TNF
40protein oligomerizationGO:00512599.1NLRP3, NOD1, NOD2
41positive regulation of interleukin-6 productionGO:00327559.0IL1B, NOD1, NOD2, TNF
42defense responseGO:00069528.9NLRP3, NOD1, NOD2, TNF
43positive regulation of transcription from RNA polymerase II promoterGO:00459448.7IL1B, NLRP3, NOD2, TNF
44activation of MAPK activityGO:00001878.6IL1B, NOD1, NOD2, TNF
45positive regulation of NF-kappaB transcription factor activityGO:00510928.5IL1B, NLRP3, NOD1, NOD2, TNF
46positive regulation of ERK1 and ERK2 cascadeGO:00703748.3IL1B, NOD1, NOD2, TNF
47inflammatory responseGO:00069548.0IL1B, MEFV, NLRP3, NOD1, TNF

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

idNameGO IDScoreTop Affiliating Genes
1CARD domain bindingGO:00507009.5NOD1, NOD2
2peptidoglycan bindingGO:00428349.0NLRP3, NOD1, NOD2

Sources for Blau Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet