MCID: BLS001
MIFTS: 59

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 50 11 46 23 24 13 68 12 48
Arthrocutaneouveal Granulomatosis 11 46 24 68
Jabs Syndrome 11 46 68
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 46 24
Familial Juvenile Systemic Granulomatosis 24 68
Blaus 68 25
Acug 46 68
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 68
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 66
 
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 46
Granulomatosis, Familial Juvenile Systemic 46
Granulomatosis, Familial, Blau Type 46
Familial Granulomatosis, Blau Type 24
Familial Granulomatosis Blau Type 68
Pediatric Granulomatous Arthritis 24
Sarcoidosis, Early-Onset 66
Early-Onset Sarcoidosis 24

Characteristics:

HPO:

62
blau syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 186580
Disease Ontology11 DOID:0050678
NCIt43 C116794
MedGen35 C1861303

Summaries for Blau Syndrome

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NIH Rare Diseases:46 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 sarcoidosis, early-onset and craniolenticulosutural dysplasia, 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 immune system.

Disease Ontology:11 An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused by nod2/card15 mutations.

UniProtKB/Swiss-Prot:68 Blau syndrome: A rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.

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.

Wikipedia:69 In 1985 Edward Blau, a pediatrician in Marshfield Wisconsin, reported a family that over four... more...

Description from OMIM:50 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 157)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis, early-onset11.5
2craniolenticulosutural dysplasia11.4
3aural atresia, multiple congenital anomalies, and mental retardation10.9
4acneiform dermatitis10.6NOD2, TNF
5crohn's colitis10.6NOD2, TNF
6phlyctenulosis10.6NOD2, TNF
7oropharynx cancer10.5NOD2, TNF
8spondylohypoplasia, arthrogryposis and popliteal pterygium10.5NOD2, TNF
9capillary lymphangioma10.5NOD2, TNF
10female reproductive system disease10.5NOD2, TNF
11uterine corpus endometrial stromal sarcoma10.5NOD2, TNF
12gastroduodenal crohn's disease10.5NOD2, TNF
13chromosome 9p deletion syndrome10.5NOD2, TNF
14lacrimal system cancer10.5NOD2, TNF
15thyroid malformation10.5IL1B, TNF
16hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss10.5IL1B, TNF
17baetz-greenwalt syndrome10.5IL1B, TNF
18pulmonary hypertension10.5IL1B, TNF
19scrotum paget's disease10.5IL1B, TNF
20cartilage disease10.5IL1B, TNF
21hypothyroidism10.5IL1B, TNF
22autoimmune polyendocrine syndrome10.5IL1B, TNF
23ileocolitis10.5IL1B, TNF
24rectosigmoid junction neoplasm10.5IL1B, TNF
25skin disease10.5IL1B, TNF
26scarlet fever10.5IL1B, TNF
27non-secretory myeloma10.5IL1B, TNF
28spastic paraplegia-paget disease of bone syndrome10.5IL1B, TNF
29paraphimosis10.5IL1B, TNF
30qualitative platelet defect10.5IL1B, TNF
31sterility due to immotile flagella10.5IL1B, TNF
32burns10.5IL1B, TNF
33orbital lymphangioma10.5IL1B, TNF
34pseudoretinitis pigmentosa10.5IL1B, TNF
35paraneoplastic polyneuropathy10.5IL1B, TNF
36scn8a encephalopathy10.5IL1B, TNF
37thoracic aortic aneurysm10.5IL1B, TNF
38ampulla of vater neoplasm10.5IL1B, TNF
39foodborne botulism10.5IL1B, TNF
40inner ear cancer10.4IL1B, TNF
41keloids10.4IL1B, TNF
42accessory nerve disease10.4IL1B, TNF
43osmotic diarrhea10.4IL1B, TNF
44oesophagostomiasis10.4IL1B, TNF
45tibialis tendinitis10.4IL1B, TNF
46bartonellosis10.4IL1B, TNF
47gastric dilatation10.4IL1B, TNF
48kidney angiomyolipoma10.4IL1B, TNF
49ehlers-danlos syndrome, musculocontractural type10.4IL1B, TNF
50benign lymphoepithelial lesion of salivary gland10.4IL1B, 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

HPO human phenotypes related to Blau Syndrome:

(show all 54)
id Description Frequency HPO Source Accession
1 skin rash hallmark (90%) HP:0000988
2 hypermelanotic macule hallmark (90%) HP:0001034
3 arthritis hallmark (90%) HP:0001369
4 limitation of joint mobility hallmark (90%) HP:0001376
5 joint swelling hallmark (90%) HP:0001386
6 arthralgia hallmark (90%) HP:0002829
7 glaucoma typical (50%) HP:0000501
8 cataract typical (50%) HP:0000518
9 photophobia typical (50%) HP:0000613
10 dry skin typical (50%) HP:0000958
11 abnormality of temperature regulation typical (50%) HP:0004370
12 camptodactyly of finger typical (50%) HP:0100490
13 renal insufficiency occasional (7.5%) HP:0000083
14 nephropathy occasional (7.5%) HP:0000112
15 xerostomia occasional (7.5%) HP:0000217
16 retinopathy occasional (7.5%) HP:0000488
17 visual impairment occasional (7.5%) HP:0000505
18 optic atrophy occasional (7.5%) HP:0000648
19 hypertension occasional (7.5%) HP:0000822
20 choroideremia occasional (7.5%) HP:0001139
21 abnormality of the liver occasional (7.5%) HP:0001392
22 abnormality of the pericardium occasional (7.5%) HP:0001697
23 splenomegaly occasional (7.5%) HP:0001744
24 anemia occasional (7.5%) HP:0001903
25 subcutaneous hemorrhage occasional (7.5%) HP:0001933
26 morphological abnormality of the central nervous system occasional (7.5%) HP:0002011
27 pulmonary hypertension occasional (7.5%) HP:0002092
28 respiratory insufficiency occasional (7.5%) HP:0002093
29 vasculitis occasional (7.5%) HP:0002633
30 lymphadenopathy occasional (7.5%) HP:0002716
31 dilatation of the ascending aorta occasional (7.5%) HP:0005111
32 ichthyosis occasional (7.5%) HP:0008064
33 renal neoplasm occasional (7.5%) HP:0009726
34 abnormality of the salivary glands occasional (7.5%) HP:0010286
35 facial palsy occasional (7.5%) HP:0010628
36 retrobulbar optic neuritis occasional (7.5%) HP:0100654
37 skin ulcer occasional (7.5%) HP:0200042
38 glaucoma HP:0000501
39 cataract HP:0000518
40 uveitis HP:0000554
41 band keratopathy HP:0000585
42 abnormality of the ear HP:0000598
43 eczema HP:0000964
44 iritis HP:0001101
45 abnormality of the cranial nerves HP:0001291
46 arthritis HP:0001369
47 joint swelling HP:0001386
48 flexion contracture of toe HP:0005830
49 intermittent generalized erythematous papular rash HP:0007432
50 nongranulomatous uveitis HP:0007813
51 cystoid macular edema HP:0011505
52 camptodactyly of finger HP:0100490
53 synovitis HP:0100769
54 skin ulcer HP:0200042

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
MitoxantronePhase 226465271-80-94212
Synonyms:
1,4-Bis(2-(2-hydroxyethylamino)ethyl)amino)-5,8-dihydroxyanthraquinone
1,4-DIHYDROXY-5,8-BIS({2-[(2-HYDROXYETHYL)AMINO]ETHYL}AMINO)-9,10-ANTHRACENEDIONE
1,4-DIHYDROXY-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)-9,10-anthracenedione
1,4-Dihydroxy-5,8-bis(2-((2-hydroxyethyl)amino)ethylamino)-9,10-anthracenedione
1,4-Dihydroxy-5,8-bis(5-hydroxy-3-azapentylamino)anthrachinon
1,4-Dihydroxy-5,8-bis[2-(2-hydroxyethylamino)ethylamino]anthracene-9,10-dione
1,4-Dihydroxy-5,8-bis[[2-[(2-hydroxyethyl)amino]ethyl]amino]-9,10-anthracenedione
1,4-dihydroxy-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)anthra-9,10-quinone
1,4-dihydroxy-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)anthracene-9,10-dione
137635-96-2
2fum
5,8-Bis((2-((2-hydroxyethyl)amino)ethyl)amino)-1,4-dihydroxyanthraquinone
65271-80-9
70476-82-3
70476-82-3 (hydrochloride)
70711-41-0
70711-41-0 (acetate)
70945-62-9
9,10-Anthracenedione, 1,4-dihydroxy-5,8-bis((2-((2-hydroxyethyl)amino)ethyl)amino)- (9CI)
AB00053716
AC1L1HNY
AN-584/42007670
BIDD:PXR0181
BPBio1_000627
BRD-K21680192-300-05-2
BRD-K21680192-300-07-8
BRN 2795126
BSPBio_000569
BSPBio_003160
C11195
C22H28N4O6
CAS-70476-82-3
CCRIS 7604
CHEBI:50729
CHEMBL58
CID4212
D08224
DB01204
DHAD
DHAQ
DHAQ (*Diacetate salt*)
DHAQ HCl
Dihydroxyanthraquinone
DivK1c_000516
HMS2090D05
IDI1_000516
KBio1_000516
KBio2_002135
KBio2_004703
KBio2_007271
KBio3_002660
KBioGR_001531
KBioSS_002135
LS-20638
Liposome Encapsulated Mitoxantrone (LEM)
Lopac-M-6545
Lopac0_000779
MITOXANTRONE, 1,4-DIHYDROXY-5,8-BIS({2-[(2-HYDROXYETHYL)AMINO]ETHYL}AMINO)ANTHRA-9,10-QUINONE
MITOXANTRONE, Mitoxantrone Hydrochloride, Mitoxantrone dihydrochloride, MITOXANTHRONE HYDROCHLORIDE
MIX
 
MLS002703044
Misostol
Misostol (TN)
Mitox
Mitoxanthrone
Mitoxantron
Mitoxantrona
Mitoxantrona [INN-Spanish]
Mitoxantrone
Mitoxantrone (INN)
Mitoxantrone (free base)
Mitoxantrone 2HCl
Mitoxantrone HCl
Mitoxantrone [INN]
Mitoxantrone dihydrochloride
Mitoxantrone hydrochloride
Mitoxantronum
Mitoxantronum [INN-Latin]
Mitozantrone
Mitozantrone hydrochloride
MolPort-003-849-239
NCGC00015693-01
NCGC00015693-02
NCGC00015693-04
NCGC00162251-01
NCI60_002276
NCI60_002535
NChemBio.2007.10-comp17
NINDS_000516
NSC 279836
NSC-279836
NSC-287836
NSC-299195
NSC-301739
NSC-301739D
NSC279836
NSC299195
NSC301739
Neuro_000153
Novantron
Novantrone
Novantrone(R) (mitoxantrone for injection concentrate)
Prestwick0_000385
Prestwick1_000385
Prestwick2_000385
Prestwick3_000385
S2485_Selleck
SMP2_000179
SMR001549953
SPBio_000756
SPBio_002490
SR-01000076001
SR-01000076001-7
STK631833
Spectrum2_000908
Spectrum3_001590
Spectrum4_000866
Spectrum5_001205
Spectrum_001655
UNII-BZ114NVM5P
VU0244399-2
mitoxantrone
2
DaunorubicinPhase 225920830-81-330323
Synonyms:
(+)-Daunomycin
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-(methyloxy)-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-a-L-lyxo-hexopyranoside
(7S,9R)-9-Acetyl-7-[(2S,4S,5S,6S)-4-amino-5-hydroxy-6-methyl-oxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(7S,9S)-9-acetyl-7-[(2R,4S,5S,6S)-4-amino-5-hydroxy-6-methyloxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(8S-cis)-8-Acetyl-10-((3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyrannosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-1-methoxy-5,12-napthacenedione
(8S-cis)-8-Acetyl-10-[(3-amino-2,3,6-trideoxy-.alpha.-L-lyxo-hexopyranosyl)oxy]-7,8,9,10-tetrahydro--6,8,11-trihydroxy-1-methoxy-5,12-naphthacenedione
11006-54-5
11048-29-6
1407-15-4
149541-57-1
20830-81-3
23942-76-9
27576-81-4
28020-80-6
AB00514669
AC1L1JCP
AC1Q29OI
AI3-52942
Acetyladriamycin
Anthracyline
Antibiotics From Streptomyces Coeruleorubidus
Antibiotics from Streptomyces coeruleorubidus
BPBio1_000389
BRD-K43389675-003-02-7
BRN 1445583
BSPBio_000353
C01907
CCRIS 914
CHEBI:41977
CHEMBL178
CID30323
Cerubidin
Cerubidine
D07776
DAUNORUBICIN HCL
DB00694
DM1
Daunamycin
Daunarubicinum
Dauno-Rubidomycine
DaunoXome
DaunoXome (TN)
Daunoblastin
Daunoblastine
Daunomycin
 
Daunomycin Hydrochloride
Daunomycin, Hydrochloride
Daunorrubicina
Daunorubicin
Daunorubicin (INN)
Daunorubicin (liposomal)
Daunorubicin Hcl
Daunorubicin Hydrochloride
Daunorubicin [INN:BAN]
Daunorubicin, Hydrochloride
Daunorubicina
Daunorubicine
Daunorubicinum
Daunorubicinum [INN-Latin]
Daunoxome
EINECS 244-069-7
FI 6339
FI6339
HMS2089H04
HMS2091K06
HSDB 5095
LMPK13050002
LS-187381
LS-997
Leukaemomycin C
MolPort-002-533-961
NCGC00024246-05
NCGC00024246-06
NCGC00025173-01
NCI-C04693
NChemBio.2007.10-comp14
NSC 83142
NSC-82151
Ondena
Prestwick3_000487
RCRA waste no. U059
RP 13057
Rcra Waste No. U059
Rp 13057 Hydrochloride
Rubidomycin
Rubidomycin Hydrochloride
Rubomycin
Rubomycin C
Tocris-1467
UNII-ZS7284E0ZP
VS-103
daunorubicin
nchembio723-comp2
3
CytarabinePhase 21074147-94-46253
Synonyms:
(beta-D-Arabinofuranosyl)cytosine
(beta-D-arabinofuranosyl)cytosine
1-.beta.-D-arabinofuranosyl-cytosine
1-Arabinofuranosylcytosine
1-beta -D-Arabinofaranosylcytosine
1-beta -D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta -D-Arabinofuranosylcytosine
1-beta-D-Arabinofaranosylcytosine
1-beta-D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta-D-Arabinofuranosyl-Cytosine
1-beta-D-Arabinofuranosylcytosine
1-beta-D-Arabinofuranosylcytosine, Cytosine Arabinoside
1-beta-D-Arabinosyl-Cytosine
1-beta-D-Arabinosylcytosine
147-94-4
1beta -Arabinofuranasylcytosine
1beta -D-Arabinofuranosylcytosine
1beta -D-Arabinosylcytosine
1beta-Arabinofuranasylcytosine
1beta-D-Arabinofuranosylcytosine
1beta-D-Arabinosylcytosine
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl- [CAS]
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl
30399_FLUKA
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin [Czech]
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidine
4-Amino-1-b-D-arabinofuranosyl-2-(1H)-pyrimidinone
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon [Czech]
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinone
4-amino-1-[(2R,3S,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one
69-74-9 (hydrochloride)
AC-1075
AC1L1M4F
AC1Q52OJ
AI3-52329
AR3
Alexan
Ara-C
Ara-C, Cytosine Arabinoside, Cytosar-U, Cytarabine
Ara-Cytidine
AraC
Arabinocytidine
Arabinofuranosyl Cytidine
Arabinofuranosylcytosine
Arabinosyl Cytosine
Arabinosylcytosine
Arabitin
Aracytidine
Aracytin
Aracytine
Arafcyt
BIDD:GT0371
BIDD:PXR0139
BTB15125
Beta-cytosine arabinoside
C02961
C1768_SIGMA
C2035
C9H13N3O5
CCRIS 913
CHEBI:28680
CHEMBL803
CHX 3311
CID6253
CPD000449317
CYTARABINE (SEE ALSO CYTARABINE HYDROCHLORIDE 69-74-9)
Citarabina
Citarabina [INN-Spanish]
Cytarabin
Cytarabina
Cytarabine
Cytarabine (JP15/USP/INN)
 
Cytarabine [USAN:INN:BAN:JAN]
Cytarabine liposome injection
Cytarabinoside
Cytarabinum
Cytarabinum [INN-Latin]
Cytarbel
Cytonal
Cytosar
Cytosar-U
Cytosine 1-beta-D-arabinofuranoside
Cytosine arabinofuranoside
Cytosine arabinose
Cytosine arabinoside
Cytosine arabinoside (VAN)
Cytosine beta-D-arabinofuranoside
Cytosine beta-D-arabinofuranoside hydrochloride
Cytosine beta-D-arabinoside
Cytosine, beta -D-arabinoside
Cytosine, beta-D-arabinoside
Cytosine-1-beta-D-arabinofuranoside
Cytosine-1-beta-D-arabinofuranoside hydrochloride
Cytosine-beta -D-arabinofuranoside
Cytosine-beta -arabinoside
Cytosine-beta-D-arabinofuranoside
Cytosine-beta-arabinoside
Cytosinearabinoside
D00168
DB00987
DepoCyte
Depocyt
Depocyt (TN)
Depocyt (liposomal)
Depocyte
EINECS 205-705-9
Erpalfa
FT-0082880
HMS2051K19
HMS2090A18
HSDB 3049
Intrathecal (injected into the spinal fluid) DepoCyt
Intrathecal cytarabine (also known as ara-C)
Iretin
LS-860
Lopac0_000316
MLS000758310
MLS001066340
MolPort-001-792-509
NCGC00093356-03
NCGC00093356-04
NCGC00093356-05
NCI-C04728
NSC 287459
NSC287459
S1648_Selleck
SAM001247012
SMR000449317
SR-01000075773-3
Spongocytidine
TL8001048
Tarabine
U 19920A
U-19,920
U-19920
UNII-04079A1RDZ
Udicil
ZINC03795098
beta -D-arabinosylcytosine
beta -arabinosylcytosine
beta -cytosine arabinoside
beta-Ara C
beta-Ara c
beta-Arabinosylcytosine
beta-Cytosine arabinoside
beta-D-Arabinosylcytosine
cytarabine
cytarabine liposome injection
cytosine-β-D-arabinofuranoside
4
nivolumab254946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Intensive Chemotherapy With or Without Volasertib in Patients With Newly Diagnosed High-Risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)RecruitingNCT02198482Phase 2
2Pattern 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 Syndrome25 23 NOD2

Anatomical Context for Blau Syndrome

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MalaCards organs/tissues related to Blau Syndrome:

34
Skin, Eye, Heart, Liver, Myeloid, Salivary gland

Animal Models for Blau Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Blau Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.9IL1B, MEFV, NLRP3, NOD2, TNF
2MP:00053877.5IL1B, MEFV, NLRP3, NOD1, NOD2, TNF
3MP:00053977.3IL1B, MEFV, NLRP3, NOD1, NOD2, TNF

Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. (27625029)
2016
2
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. (27403452)
2016
3
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. (27304707)
2016
4
Somatic NOD2 mosaicism in Blau syndrome. (25724124)
2015
5
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. (25429073)
2015
6
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. (26517420)
2015
7
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. (25829188)
2015
8
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
9
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
10
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
11
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. (25136265)
2014
12
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. (25093298)
2014
13
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. (25416713)
2014
14
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
15
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
16
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
17
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
18
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
19
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
20
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
21
Blau syndrome revisited. (21788900)
2011
22
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. (22142748)
2011
23
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
24
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
25
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. (20084402)
2010
26
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. (20052476)
2010
27
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
28
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
29
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
30
Interleukin-1beta suppression in Blau syndrome: comment on the article by Martin et al. (19644875)
2009
31
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. (19180500)
2009
32
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? (18061972)
2007
33
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
34
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. (17393391)
2007
35
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. (17096091)
2007
36
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
37
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. (17372104)
2007
38
Blau syndrome associated with a CARD15/NOD2 mutation. (17157607)
2006
39
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. (17207093)
2006
40
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
41
Blau syndrome presenting with ichthyosis. (15670175)
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:

68
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)single nucleotide variantPathogenicrs104895461GRCh37Chr 16, 50744823: 50744823
2NOD2NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe)single nucleotide variantPathogenicrs104895460GRCh37Chr 16, 50745227: 50745227
3NOD2NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp)single nucleotide variantPathogenicrs104895462GRCh37Chr 16, 50744822: 50744822
4NOD2NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs104895477GRCh37Chr 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
8lipopolysaccharide-mediated signaling pathwayGO:003166310.2IL1B, TNF
9positive regulation of interferon-gamma productionGO:003272910.2IL1B, TNF
10positive regulation of interleukin-1 beta secretionGO:005071810.2NLRP3, NOD2
11protein kinase B signalingGO:004349110.2IL1B, TNF
12positive regulation of interleukin-1 beta productionGO:003273110.2NOD1, NOD2
13positive regulation of heterotypic cell-cell adhesionGO:003411610.2IL1B, TNF
14positive regulation of fever generationGO:003162210.2IL1B, TNF
15negative regulation of lipid catabolic processGO:005099510.2IL1B, TNF
16positive regulation of type 2 immune responseGO:000283010.2NLRP3, NOD2
17negative regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124010.1IL1B, TNF
18cellular response to muramyl dipeptideGO:007122510.1NOD1, NOD2
19interleukin-1 beta productionGO:003261110.1IL1B, NLRP3
20regulation of I-kappaB kinase/NF-kappaB signalingGO:004312210.1IL1B, TNF
21positive regulation of JUN kinase activityGO:004350710.1IL1B, TNF
22detection of bacteriumGO:001604510.1NOD1, NOD2
23positive regulation of dendritic cell antigen processing and presentationGO:000260610.1NOD1, NOD2
24positive regulation of stress-activated MAPK cascadeGO:003287410.0NOD1, NOD2
25positive regulation of tumor necrosis factor productionGO:003276010.0NOD1, NOD2
26nucleotide-binding oligomerization domain containing signaling pathwayGO:007042310.0NOD1, NOD2
27positive regulation of nitric oxide biosynthetic processGO:00454299.9IL1B, TNF
28positive regulation of phagocytosisGO:00507669.9IL1B, TNF
29detection of biotic stimulusGO:00095959.7NLRP3, NOD1, NOD2
30cellular response to organic cyclic compoundGO:00714079.6IL1B, NOD2, TNF
31JNK cascadeGO:00072549.6NOD1, NOD2, TNF
32positive regulation of NIK/NF-kappaB signalingGO:19012249.6NOD1, 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:00432809.4NLRP3, NOD1, TNF
36activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.2NLRP3, NOD1, TNF
37negative regulation of inflammatory responseGO:00507289.2MEFV, MVK, NLRP3
38positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1IL1B, NOD1, NOD2, TNF
39positive regulation of JNK cascadeGO:00463309.1IL1B, NOD1, NOD2, TNF
40protein oligomerizationGO:00512599.1NLRP3, NOD1, NOD2
41defense responseGO:00069529.1NLRP3, NOD1, NOD2, TNF
42positive regulation of interleukin-6 productionGO:00327559.0IL1B, NOD1, NOD2, TNF
43activation of MAPK activityGO:00001878.6IL1B, NOD1, NOD2, TNF
44positive regulation of ERK1 and ERK2 cascadeGO:00703748.5IL1B, NOD1, NOD2, TNF
45positive regulation of NF-kappaB transcription factor activityGO:00510928.5IL1B, NLRP3, NOD1, NOD2, TNF
46positive regulation of transcription from RNA polymerase II promoterGO:00459448.4IL1B, NLRP3, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet