MCID: BLS001
MIFTS: 62

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 49 10 11 45 22 23 47 12 67
Arthrocutaneouveal Granulomatosis 10 45 23 67
Jabs Syndrome 10 45 67
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 45 23
Familial Juvenile Systemic Granulomatosis 23 67
Blaus 67 24
Acug 45 67
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 67
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 65
 
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 45
Granulomatosis, Familial Juvenile Systemic 45
Granulomatosis, Familial, Blau Type 45
Familial Granulomatosis, Blau Type 23
Pediatric Granulomatous Arthritis 23
Familial Granulomatosis Blau Type 67
Sarcoidosis, Early-Onset 65
Early-Onset Sarcoidosis 23

Characteristics:

HPO:

61
blau syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 186580
Disease Ontology10 DOID:0050678
NCIt42 C116794
MedGen34 C1861303
UMLS65 C1861303, C1836122

Summaries for Blau Syndrome

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NIH Rare Diseases:45 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 rheumatoid arthritis, and has symptoms including arthralgia, joint swelling and limitation of joint mobility. 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 Cellular roles of Anthrax toxin. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are skeleton and immune system.

Disease Ontology:10 An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused by NOD2/CARD15 mutations.

Genetics Home Reference:23 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:67 Blau syndrome: A rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.

Wikipedia:68 In 1985 Edward Blau, a pediatrician in Marshfield Wisconsin, reported a family that over four... more...

Description from OMIM:49 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 135)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoidosis, early-onset28.4HLA-DQA1, IL1B, MEFV, MVK, NLRP3, NOD1
2rheumatoid arthritis28.3HLA-DQA1, IL1B, NLRP3, TLR4, TNF
3cooper-jabs syndrome11.9
4craniolenticulosutural dysplasia11.4
5pustulosis of palm and sole10.6NOD2, TNF
6gastroduodenal crohn's disease10.6NOD2, TNF
7polycythemia10.6IL1B, TNF
8stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features10.6IL1B, TNF
9plantar nerve lesion10.6IL1B, TNF
10peyronie's disease10.6IL1B, TNF
11mammary paget's disease10.6IL1B, TNF
12hidradenitis10.6NOD2, TNF
13lujo hemorrhagic fever10.6IL1B, TNF
14capillary lymphangioma10.6NOD2, TNF
15chromosome 9p deletion syndrome10.6NOD2, TNF
16residual stage angle-closure glaucoma10.6IL1B, TNF
17testicular granulosa cell tumor10.5IL1B, TNF
18refractory plasma cell neoplasm10.5IL1B, TNF
19skin conditions10.5IL1B, TNF
20rin2 syndrome10.5NOD2, TLR4
21postsurgical hypothyroidism10.5IL1B, TNF
22acute leukemia of ambiguous lineage10.5NOD2, TNF
23chagas disease10.5TLR4, TNF
24benign focal amyotrophy10.5IL1B, TNF
25opportunistic bacterial infectious disease10.5IL1B, TNF
26dentin caries10.5IL1B, TNF
27meier-gorlin syndrome 310.5HLA-DQA1, NOD2
28cryoglobulinemia10.5NOD2, TNF
29anti-hla hyperimmunization10.5TLR4, TNF
30protein r deficiency10.5IL1B, TLR4
31secretory diarrhea10.5IL1B, TNF
32blau syndrome10.5HLA-DQA1, NOD2
33photokeratitis10.5IL1B, TLR4
34meige syndrome10.5IL1B, TNF
35pustulosis palmaris et plantaris10.4NOD2, TNF
36skin amelanotic melanoma10.4IL1B, TLR4
37drug-induced mental disorder10.4HLA-DQA1, TNF
38tracheal stenosis10.4IL1B, TNF
39alcoholic gastritis10.4IL1B, TLR4
40cryptosporidiosis10.4HLA-DQA1, TNF
41basilar artery occlusion10.4TLR4, TNF
42tinea capitis10.3IL1B, NLRP3
43melioidosis10.3NOD2, TLR4
44lateral sclerosis10.3IL1B, TNF
45inflammatory bowel disease 310.3IL1B, NOD2, TNF
46familial colorectal cancer10.3IL1B, NLRP3
47wells-jankovic syndrome10.3IL1B, NLRP3
48common cold10.3TLR4, TNF
49spondylocamptodactyly10.3NOD2, TLR4, TNF
50villoglandular variant cervical mucinous adenocarcinoma10.2IL1B, 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 arthralgia hallmark (90%) HP:0002829
2 joint swelling hallmark (90%) HP:0001386
3 limitation of joint mobility hallmark (90%) HP:0001376
4 arthritis hallmark (90%) HP:0001369
5 hypermelanotic macule hallmark (90%) HP:0001034
6 skin rash hallmark (90%) HP:0000988
7 camptodactyly of finger typical (50%) HP:0100490
8 abnormality of temperature regulation typical (50%) HP:0004370
9 dry skin typical (50%) HP:0000958
10 photophobia typical (50%) HP:0000613
11 cataract typical (50%) HP:0000518
12 glaucoma typical (50%) HP:0000501
13 skin ulcer occasional (7.5%) HP:0200042
14 retrobulbar optic neuritis occasional (7.5%) HP:0100654
15 facial palsy occasional (7.5%) HP:0010628
16 abnormality of the salivary glands occasional (7.5%) HP:0010286
17 renal neoplasm occasional (7.5%) HP:0009726
18 ichthyosis occasional (7.5%) HP:0008064
19 dilatation of the ascending aorta occasional (7.5%) HP:0005111
20 lymphadenopathy occasional (7.5%) HP:0002716
21 vasculitis occasional (7.5%) HP:0002633
22 respiratory insufficiency occasional (7.5%) HP:0002093
23 pulmonary hypertension occasional (7.5%) HP:0002092
24 morphological abnormality of the central nervous system occasional (7.5%) HP:0002011
25 subcutaneous hemorrhage occasional (7.5%) HP:0001933
26 anemia occasional (7.5%) HP:0001903
27 splenomegaly occasional (7.5%) HP:0001744
28 abnormality of the pericardium occasional (7.5%) HP:0001697
29 abnormality of the liver occasional (7.5%) HP:0001392
30 choroideremia occasional (7.5%) HP:0001139
31 hypertension occasional (7.5%) HP:0000822
32 optic atrophy occasional (7.5%) HP:0000648
33 visual impairment occasional (7.5%) HP:0000505
34 retinopathy occasional (7.5%) HP:0000488
35 xerostomia occasional (7.5%) HP:0000217
36 nephropathy occasional (7.5%) HP:0000112
37 renal insufficiency occasional (7.5%) HP:0000083
38 skin ulcer HP:0200042
39 synovitis HP:0100769
40 camptodactyly of finger HP:0100490
41 cystoid macular edema HP:0011505
42 nongranulomatous uveitis HP:0007813
43 intermittent generalized erythematous papular rash HP:0007432
44 flexion contracture of toe HP:0005830
45 joint swelling HP:0001386
46 arthritis HP:0001369
47 abnormality of the cranial nerves HP:0001291
48 iritis HP:0001101
49 eczema HP:0000964
50 abnormality of the ear HP:0000598
51 band keratopathy HP:0000585
52 uveitis HP:0000554
53 cataract HP:0000518
54 glaucoma HP:0000501

UMLS symptoms related to Blau Syndrome:


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

Drugs & Therapeutics for Blau Syndrome

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DaunorubicinapprovedPhase 225220830-81-330323
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
2
Cytarabineapproved, investigationalPhase 21035147-94-46253
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
3
Mitoxantroneapproved, investigationalPhase 225765271-80-94212
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 Hydrochloride
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
4Topoisomerase InhibitorsPhase 24081
5Immunologic FactorsPhase 218483
6Immunosuppressive AgentsPhase 210422
7Peripheral Nervous System AgentsPhase 218510
8Antiviral AgentsPhase 28071
9Antibiotics, AntitubercularPhase 25971
10Anti-Bacterial AgentsPhase 29140
11Anti-Infective AgentsPhase 217220
12AntimetabolitesPhase 29454
13Antimetabolites, AntineoplasticPhase 25770
14AnalgesicsPhase 29358

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

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 Syndrome22 NOD2

Anatomical Context for Blau Syndrome

About this section

MalaCards organs/tissues related to Blau Syndrome:

33
Skin, Eye, Heart, Liver, T cells, Monocytes, Myeloid

Animal Models for Blau Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Blau Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.7IL1B, MEFV, NLRP3, NOD2, TLR4, TNF
2MP:00053877.0HLA-DQA1, IL1B, MEFV, NLRP3, NOD1, NOD2
3MP:00053976.9HLA-DQA1, IL1B, MEFV, NLRP3, NOD1, NOD2

Publications for Blau Syndrome

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Articles related to Blau Syndrome:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Intractable leg ulcers in Blau syndrome. (26969879)
2016
2
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. (26606664)
2016
3
Somatic NOD2 mosaicism in Blau syndrome. (25724124)
2015
4
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. (26712281)
2015
5
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. (26509073)
2015
6
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. (24713464)
2014
7
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. (25182201)
2014
8
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
9
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). (25209167)
2014
10
A case of blau syndrome. (24876985)
2014
11
Blau syndrome and latent tubercular infection: an unresolved partnership. (24646037)
2014
12
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? (22821420)
2013
13
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
14
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. (23124805)
2013
15
Blau syndrome-associated uveitis and the NOD2 gene. (24010719)
2013
16
Morphologic and immunohistochemical characterization ofA granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (22464675)
2012
17
Blau syndrome, clinical and genetic aspects. (22884558)
2012
18
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. (21596301)
2011
19
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. (21320290)
2011
20
Etanercept-induced myelopathy in a pediatric case of blau syndrome. (22937436)
2011
21
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. (21152214)
2011
22
Blau syndrome revisited. (21788900)
2011
23
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. (20565245)
2010
24
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. (20039400)
2010
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
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. (19180500)
2009
28
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (19169908)
2009
29
Two pediatric cases of Blau syndrome. (20040255)
2009
30
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. (18718560)
2009
31
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (19116920)
2009
32
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. (19822951)
2009
33
Leg ulcers: a new symptom of Blau syndrome? (18955195)
2008
34
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? (18061972)
2007
35
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. (17916199)
2007
36
Blau syndrome presenting with ichthyosis. (15670175)
2005
37
Blau syndrome and related genetic disorders causing childhood arthritis. (16303101)
2005
38
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. (15459013)
2005
39
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. (15693102)
2005
40
A new CARD15 mutation in Blau syndrome. (15812565)
2005
41
Blau syndrome. (15051234)
2004
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
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. (14522785)
2003
45
Blau syndrome: a new kindred. (12894082)
2003
46
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. (12186634)
2002
47
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. (12051637)
2002
48
CARD15 mutations in Blau syndrome. (11528384)
2001
49
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000
50

Variations for Blau Syndrome

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

67
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 27)
idSuper pathwaysScoreTop Affiliating Genes
19.8NOD2, TNF
29.7IL1B, TNF
39.7IL1B, TNF
49.7IL1B, TNF
59.7IL1B, TNF
69.4IL1B, NOD2, TNF
79.2IL1B, NLRP3, TNF
8
Show member pathways
9.2IL1B, NOD1, NOD2
9
Show member pathways
9.2IL1B, TLR4, TNF
109.2IL1B, TLR4, TNF
11
Show member pathways
9.2IL1B, TLR4, TNF
12
Show member pathways
9.2IL1B, TLR4, TNF
139.2IL1B, TLR4, TNF
149.2IL1B, TLR4, TNF
159.2IL1B, TLR4, TNF
169.2IL1B, TLR4, TNF
179.2IL1B, TLR4, TNF
189.2IL1B, TLR4, TNF
198.8HLA-DQA1, IL1B, TLR4, TNF
20
Show member pathways
8.8HLA-DQA1, IL1B, TLR4, TNF
218.5HLA-DQA1, IL1B, NOD2, TLR4, TNF
22
Show member pathways
8.5HLA-DQA1, IL1B, NOD2, TLR4, TNF
23
Show member pathways
8.4HLA-DQA1, IL1B, NLRP3, TLR4, TNF
248.2IL1B, NLRP3, NOD1, TLR4, TNF
25
Show member pathways
7.9IL1B, NLRP3, NOD1, NOD2, TLR4, TNF
26
Show member pathways
7.8IL1B, MEFV, NLRP3, NOD1, NOD2, TNF
27
Show member pathways
6.9HLA-DQA1, IL1B, MEFV, NLRP3, NOD1, NOD2

GO Terms for genes affiliated with Blau Syndrome

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

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of calcidiol 1-monooxygenase activityGO:006055910.4IL1B, TNF
2positive regulation of membrane protein ectodomain proteolysisGO:005104410.4IL1B, TNF
3sequestering of triglycerideGO:003073010.4IL1B, TNF
4regulation of establishment of endothelial barrierGO:190314010.4IL1B, TNF
5positive regulation of chemokine biosynthetic processGO:004508010.4IL1B, TNF
6cellular response to muramyl dipeptideGO:007122510.4NOD1, NOD2
7detection of bacteriumGO:001604510.3NOD1, NOD2
8positive regulation of nitric oxide biosynthetic processGO:004542910.3IL1B, TNF
9positive regulation of fever generationGO:003162210.3IL1B, TNF
10negative regulation of lipid catabolic processGO:005099510.3IL1B, TNF
11negative regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124010.3IL1B, TNF
12positive regulation of NIK/NF-kappaB signalingGO:190122410.3NOD1, TNF
13positive regulation of interleukin-8 biosynthetic processGO:004541610.3TLR4, TNF
14positive regulation of chemokine productionGO:003272210.3TLR4, TNF
15interleukin-1 beta productionGO:003261110.3IL1B, NLRP3
16positive regulation of nitric-oxide synthase biosynthetic processGO:005177010.3NOD2, TLR4
17positive regulation of interleukin-1 beta secretionGO:005071810.3NLRP3, NOD2
18regulation of I-kappaB kinase/NF-kappaB signalingGO:004312210.3IL1B, TNF
19regulation of inflammatory responseGO:005072710.2NOD2, TLR4
20positive regulation of phagocytosisGO:005076610.1IL1B, TNF
21toll-like receptor 10 signaling pathwayGO:003416610.1NOD1, NOD2
22negative regulation of interleukin-6 productionGO:003271510.1TLR4, TNF
23JNK cascadeGO:000725410.0NOD1, TNF
24lipopolysaccharide-mediated signaling pathwayGO:00316639.9IL1B, TLR4
25positive regulation of NF-kappaB import into nucleusGO:00423469.8IL1B, TLR4, TNF
26positive regulation of JUN kinase activityGO:00435079.8IL1B, TNF
27positive regulation of interleukin-8 productionGO:00327579.8IL1B, NOD2, TLR4
28positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.7NLRP3, NOD1, TNF
29positive regulation of tumor necrosis factor productionGO:00327609.7NOD1, NOD2, TLR4
30positive regulation of interferon-gamma productionGO:00327299.7IL1B, TLR4, TNF
31nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.7NLRP3, NOD1, NOD2
32toll-like receptor 4 signaling pathwayGO:00341429.6NOD1, NOD2, TLR4
33positive regulation of ERK1 and ERK2 cascadeGO:00703749.6IL1B, NOD1, NOD2
34protein oligomerizationGO:00512599.6NLRP3, NOD1, NOD2
35positive regulation of stress-activated MAPK cascadeGO:00328749.6IL1B, NOD1, TLR4
36toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.5NOD1, NOD2, TLR4
37toll-like receptor signaling pathwayGO:00022249.5NOD1, NOD2, TLR4
38positive regulation of interleukin-6 productionGO:00327559.5IL1B, TLR4, TNF
39immune responseGO:00069559.3IL1B, TLR4, TNF
40cellular response to lipopolysaccharideGO:00712229.3IL1B, TLR4, TNF
41defense responseGO:00069529.2NLRP3, NOD1, NOD2, TNF
42positive regulation of JNK cascadeGO:00463309.1IL1B, NOD1, NOD2, TLR4
43TRIF-dependent toll-like receptor signaling pathwayGO:00356669.1NOD1, NOD2, TLR4
44inflammatory responseGO:00069548.9IL1B, NLRP3, NOD1, TNF
45apoptotic processGO:00069158.8IL1B, NLRP3, NOD1, TLR4
46MyD88-independent toll-like receptor signaling pathwayGO:00027568.8NOD1, NOD2, TLR4
47activation of MAPK activityGO:00001878.8IL1B, NOD1, NOD2, TLR4, TNF
48defense response to bacteriumGO:00427428.8NOD1, NOD2, TLR4, TNF
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.7IL1B, NOD2, TLR4, TNF
50positive regulation of NF-kappaB transcription factor activityGO:00510928.7IL1B, NLRP3, NOD1, NOD2, TNF

Sources for Blau Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet