BLAUS
MCID: BLS001
MIFTS: 61

Blau Syndrome (BLAUS)

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 57 12 53 25 59 74 37 29 13 55 6 15 40
Sarcoidosis, Early-Onset 57 74 37 29 6 40 72
Arthrocutaneouveal Granulomatosis 57 12 53 25 74
Jabs Syndrome 57 12 53 74
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 57 53 25
Acug 57 53 74
Granulomatosis, Familial Juvenile Systemic 57 53
Familial Juvenile Systemic Granulomatosis 25 74
Granulomatosis, Familial, Blau Type 57 53
Blaus 57 74
Eos 57 74
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 74
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 72
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 53
Arthrocutaneouveal Granulomatosis; Acug 57
Familial Granulomatosis, Blau Type 25
Pediatric Granulomatous Arthritis 25
Familial Granulomatosis Blau Type 74
Sarcoidosis, Early-Onset; Eos 57
Early-Onset Sarcoidosis 25

Characteristics:

Orphanet epidemiological data:

59
blau syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Denmark); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050678
OMIM 57 186580
NCIt 50 C116794
UMLS via Orphanet 73 C1861303
Orphanet 59 ORPHA90340
MedGen 42 C1861303
UMLS 72 C1836122 C1861303

Summaries for Blau Syndrome

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. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can involve additional joints and restrict movement by decreasing the range of motion in many joints. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. Some individuals with Blau syndrome develop kidney disease (nephritis) due to inflammation. They may also have deposits of calcium in the kidneys (nephrocalcinosis) and often develop chronic kidney failure. Inflammation of blood vessels (vasculitis) can cause scarring and tissue death in the vessels and impedes blood flow to tissues and organs. Less commonly, Blau syndrome can affect other parts of the body, including the liver, spleen, salivary gland, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can impair their function and cause life-threatening complications. Rarely, affected individuals have episodes of fever or high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).

MalaCards based summary : Blau Syndrome, also known as sarcoidosis, early-onset, is related to granulomatous dermatitis and sarcoidosis 1. 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 kidney, and related phenotypes are joint swelling and arthralgia

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.

NIH Rare Diseases : 53 Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis. It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea). Permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported. It is caused by mutations in the NOD2 gene and is inherited in an autosomal dominant manner. Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) mutations and occurs sporadically (in individuals with no history of the disorder in the family).

OMIM : 57 Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). (186580)

KEGG : 37
Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional feature of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years.

UniProtKB/Swiss-Prot : 74 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 : 75 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 295, show less)
# Related Disease Score Top Affiliating Genes
1 granulomatous dermatitis 31.3 TNF NOD2
2 sarcoidosis 1 31.3 TNF NOD2 IL1B
3 exanthem 31.1 TNF NLRP3
4 arthritis 30.7 TNF NOD2 IL1B
5 inflammatory bowel disease 1 30.4 NOD2 NOD1
6 crohn's colitis 30.3 TNF NOD2 IL1B
7 systemic onset juvenile idiopathic arthritis 30.3 TNF MEFV
8 toxoplasmosis 30.2 TNF TLR2 IL1B
9 psoriatic arthritis 30.1 TNF NOD2 IL1B
10 toxic shock syndrome 30.0 TNF TLR2 IL1B
11 proteasome-associated autoinflammatory syndrome 1 30.0 TNF TLR2 IL1B
12 lung disease 30.0 TNF TLR2 IL1B
13 pyoderma 29.6 TNF NOD2 MEFV
14 bone inflammation disease 29.6 TNF NLRP3 IL1B
15 pericarditis 29.3 TNF MEFV IL1B
16 muckle-wells syndrome 29.1 NLRP3 MEFV IL1B
17 wells syndrome 29.1 NLRP3 MEFV IL1B
18 asthma 28.9 TNF NOD1 NLRP3 IL1B
19 inflammatory bowel disease 28.8 TNF TLR2 NOD2 NOD1 IL1B
20 pyoderma gangrenosum 28.0 TNF NOD2 NLRP3 MVK MEFV
21 familial mediterranean fever 27.4 TNF NOD2 NLRP3 MVK MEFV IL1B
22 craniolenticulosutural dysplasia 12.0
23 eosinophilia, familial 12.0
24 exogenous ochronosis 11.4
25 phenylketonuria 11.3
26 aural atresia, multiple congenital anomalies, and mental retardation 11.2
27 uveitis 10.8
28 scoliosis 10.8
29 idiopathic scoliosis 10.6
30 scoliosis, isolated 1 10.5
31 ileocolitis 10.5 TNF NOD2
32 streptococcal meningitis 10.5 TNF NOD2
33 orofacial granulomatosis 10.5 TNF NOD2
34 panuveitis 10.5
35 trench fever 10.5 TNF TLR2
36 crohn's disease 10.5
37 hidradenitis 10.5 TNF NOD2
38 hidradenitis suppurativa 10.5 TNF NOD2
39 mesenteric lymphadenitis 10.5 TLR2 NOD2
40 nontuberculous mycobacterial lung disease 10.5 TNF TLR2
41 exudative glomerulonephritis 10.4 TNF IL1B
42 penicilliosis 10.4 TNF TLR2
43 melkersson-rosenthal syndrome 10.4 TNF NOD2
44 staphylococcal toxic shock syndrome 10.4 TNF IL1B
45 hypersensitivity reaction type iv disease 10.4 TNF NOD2
46 acute graft versus host disease 10.4 TNF NOD2
47 kashin-beck disease 10.4 TNF IL1B
48 laryngitis 10.4 TNF IL1B
49 glossitis 10.4 TNF IL1B
50 opisthorchiasis 10.4 TNF IL1B
51 mycoplasma pneumoniae pneumonia 10.4 TNF TLR2
52 cerebral artery occlusion 10.4 TNF IL1B
53 acute vascular insufficiency of intestine 10.4 TNF IL1B
54 irritant dermatitis 10.4 TNF IL1B
55 alveolar echinococcosis 10.4 TNF TLR2
56 retinitis pigmentosa 60 10.4 TNF IL1B
57 echinococcosis 10.4 TNF TLR2
58 osteosclerotic myeloma 10.4 TNF IL1B
59 tuberculous meningitis 10.4 TNF TLR2
60 prosthetic joint infection 10.4 TLR2 IL1B
61 actinic prurigo 10.4 TNF IL1B
62 poems syndrome 10.4 TNF IL1B
63 stachybotrys chartarum 10.4 TNF IL1B
64 central nervous system vasculitis 10.4 TNF IL1B
65 inflammatory bowel disease 9 10.4 NOD2 NOD1
66 periodontitis, chronic 10.4 TLR2 IL1B
67 autoimmune gastritis 10.4 TNF IL1B
68 jejunoileitis 10.4 TNF IL1B
69 hypereosinophilic syndrome 10.4
70 rosacea 10.4 TNF TLR2
71 lymphoproliferative syndrome, x-linked, 2 10.4 NOD2 NOD1
72 dental pulp disease 10.4 TNF IL1B
73 endometrial disease 10.4 TNF IL1B
74 juvenile rheumatoid arthritis 10.4
75 eales disease 10.4 TNF IL1B
76 suppurative otitis media 10.4 TLR2 IL1B
77 endometritis 10.4 TNF IL1B
78 anterior uveitis 10.4
79 pulpitis 10.4 TNF IL1B
80 lacrimal apparatus disease 10.3 TNF IL1B
81 commensal bacterial infectious disease 10.3 TNF IL1B
82 infective endocarditis 10.3 TNF TLR2
83 perinatal necrotizing enterocolitis 10.3 TNF IL1B
84 viral encephalitis 10.3 TNF IL1B
85 complex regional pain syndrome 10.3 TNF IL1B
86 dengue shock syndrome 10.3 TNF IL1B
87 idiopathic neutropenia 10.3 TNF IL1B
88 extrinsic cardiomyopathy 10.3 TNF IL1B
89 lepromatous leprosy 10.3 TNF TLR2
90 keratoconjunctivitis sicca 10.3 TNF IL1B
91 prostate cancer 10.3
92 extrapulmonary tuberculosis 10.3 TLR2 IL1B
93 testicular disease 10.3 TNF TLR2
94 acute respiratory distress syndrome 10.3 TNF IL1B
95 uveal disease 10.3 TNF NOD2
96 synovitis 10.3
97 lymph node disease 10.3 TNF IL1B
98 opportunistic mycosis 10.3 TNF TLR2
99 pleural disease 10.3 TNF IL1B
100 paracoccidioidomycosis 10.3 TNF TLR2
101 prostatitis 10.3 TNF IL1B
102 intracranial hypertension 10.3 TNF IL1B
103 mycobacterium kansasii 10.2 TLR2 NLRP3
104 cerebral palsy 10.2
105 rare disease in surgical orthopedic 10.2
106 familial cold autoinflammatory syndrome 10.2 NLRP3 IL1B
107 iritis 10.2
108 chikungunya 10.2 TNF IL1B
109 conjunctival disease 10.2 TNF NLRP3
110 autoimmune uveitis 10.2 TNF IL1B
111 vulvovaginal candidiasis 10.2 TLR2 NLRP3
112 schnitzler syndrome 10.2 NLRP3 IL1B
113 spondylarthropathy 10.2 TNF TLR2 NOD2
114 allergic rhinitis 10.2
115 rhinitis 10.2
116 ileitis 10.2 TNF TLR2 NOD2
117 leprosy 3 10.2 TNF TLR2 NOD2
118 chronic recurrent multifocal osteomyelitis 10.2 NLRP3 IL1B
119 choroiditis 10.2
120 tenosynovitis 10.2
121 multifocal choroiditis 10.2
122 melioidosis 10.2 TNF TLR2
123 peptic ulcer disease 10.2 TNF IL1B
124 colitis 10.1 TNF NOD2 IL1B
125 pyelonephritis 10.1 TNF IL1B
126 lymphadenitis 10.1 TNF NOD2 IL1B
127 intestinal disease 10.1 TNF NOD2 IL1B
128 gastrointestinal system disease 10.1 TNF NOD2 IL1B
129 ulcerative colitis 10.1 TNF NOD2 IL1B
130 polykaryocytosis inducer 10.1
131 varicose veins 10.1
132 autism 10.1
133 adenocarcinoma 10.1
134 radiation induced cancer 10.1
135 brain injury 10.1
136 traumatic brain injury 10.1
137 autoinflammation, panniculitis, and dermatosis syndrome 10.1 TNF MEFV
138 mevalonic aciduria 10.1 NLRP3 MVK
139 haemophilus influenzae 10.1 TNF TLR2 IL1B
140 congenital cytomegalovirus 10.1 TNF TLR2 IL1B
141 periapical periodontitis 10.1 TNF TLR2 IL1B
142 periodontitis 10.1 TNF TLR2 IL1B
143 juvenile ankylosing spondylitis 10.1 TNF MEFV
144 inflammatory bowel disease 3 10.1 TNF NOD2 NOD1
145 primary systemic mycosis 10.1 TNF TLR2 IL1B
146 scrub typhus 10.1 TNF TLR2 IL1B
147 yemenite deaf-blind hypopigmentation syndrome 10.1
148 ichthyosis 10.1
149 dermatitis 10.1
150 chronic granulomatous disease 10.1
151 autoinflammatory syndrome 10.1
152 middle ear disease 10.1 TNF TLR2 IL1B
153 bacterial vaginosis 10.1 TNF TLR2 IL1B
154 leptospirosis 10.1 TNF TLR2 IL1B
155 legionellosis 10.1 TNF TLR2 IL1B
156 parasitic protozoa infectious disease 10.1 TNF TLR2 IL1B
157 erysipelas 10.1 TNF MEFV
158 bacterial meningitis 10.1 TNF TLR2 IL1B
159 lyme disease 10.1 TNF TLR2 IL1B
160 gingivitis 10.1 TNF TLR2 IL1B
161 chlamydia 10.1 TNF TLR2 IL1B
162 otitis media 10.1 TNF TLR2 IL1B
163 trypanosomiasis 10.1 TNF TLR2 IL1B
164 chagas disease 10.1 TNF TLR2 IL1B
165 leishmaniasis 10.1 TNF TLR2 IL1B
166 appendicitis 10.1 TNF IL1B
167 intestinal obstruction 10.1 NOD2 MVK
168 pneumonia 10.1 TNF TLR2 IL1B
169 hypersensitivity reaction type iii disease 10.0 TNF MEFV
170 neuritis 10.0 TNF IL1B
171 hydrarthrosis 10.0 MEFV IL1B
172 hair whorl 9.9
173 protrusio acetabuli 9.9
174 trichorhinophalangeal syndrome, type i 9.9
175 rett syndrome 9.9
176 leukemia, acute myeloid 9.9
177 dermatitis, atopic 9.9
178 hypereosinophilic syndrome, idiopathic 9.9
179 leukemia, chronic myeloid 9.9
180 leptin deficiency or dysfunction 9.9
181 au-kline syndrome 9.9
182 salmonellosis 9.9
183 pre-eclampsia 9.9
184 hydrocephalus 9.9
185 hemiplegia 9.9
186 respiratory failure 9.9
187 esophageal varix 9.9
188 disseminated intravascular coagulation 9.9
189 neutropenia 9.9
190 locked-in syndrome 9.9
191 quadriplegia 9.9
192 dementia 9.9
193 acute cystitis 9.9
194 eclampsia 9.9
195 contact dermatitis 9.9
196 severe acute respiratory syndrome 9.9
197 teratoma 9.9
198 breast adenocarcinoma 9.9
199 hemoglobinuria 9.9
200 spinal stenosis 9.9
201 osteoarthritis 9.9
202 measles 9.9
203 hard palate cancer 9.9
204 taylor's syndrome 9.9
205 hemophilia 9.9
206 trichorhinophalangeal syndrome 9.9
207 allergic encephalomyelitis 9.9
208 congenital hydrocephalus 9.9
209 pituitary stalk interruption syndrome 9.9
210 slipped capital femoral epiphysis 9.9
211 hypotonia 9.9
212 pharyngitis 9.9 MEFV IL1B
213 migraine with or without aura 1 9.9
214 hyper-igd syndrome 9.9
215 dental caries 9.9
216 autoimmune disease 9.9
217 ichthyosis vulgaris 9.9
218 dowling-degos disease 1 9.9
219 retinal detachment 9.9
220 takayasu arteritis 9.9
221 corneal dystrophy, band-shaped 9.9
222 cd4/cd8 t-cell ratio 9.9
223 branchiootic syndrome 1 9.9
224 pars planitis 9.9
225 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
226 optic papillitis 9.9
227 parotitis 9.9
228 retinal vasculitis 9.9
229 blind hypotensive eye 9.9
230 intermediate uveitis 9.9
231 heart septal defect 9.9
232 atrial heart septal defect 9.9
233 keratopathy 9.9
234 retinal vascular disease 9.9
235 periarthritis 9.9
236 interstitial lung disease 9.9
237 demyelinating disease 9.9
238 myelitis 9.9
239 arthropathy 9.9
240 cranial nerve palsy 9.9
241 macular retinal edema 9.9
242 liver cirrhosis 9.9
243 kidney disease 9.9
244 eye disease 9.9
245 cataract 9.9
246 vasculitis 9.9
247 neuropathy 9.9
248 iridocyclitis 9.9
249 cytokine deficiency 9.9
250 erythrokeratoderma ''en cocardes'' 9.9
251 osteochondroma 9.9
252 transverse myelitis 9.9
253 aneurysm 9.9
254 acute transverse myelitis 9.9
255 mycobacterium abscessus 9.9 TNF TLR2 NLRP3
256 optic nerve disease 9.9
257 vulvar vestibulitis syndrome 9.9 TNF NLRP3 IL1B
258 aseptic meningitis 9.9 TNF NLRP3 IL1B
259 silicosis 9.9 TNF NLRP3 IL1B
260 pneumoconiosis 9.9 TNF NLRP3 IL1B
261 typhoid fever 9.9 TNF IL1B
262 rheumatoid arthritis 9.9
263 histiocytosis 9.9
264 aortitis 9.9
265 skin disease 9.9
266 macrophage activation syndrome 9.9
267 erysipeloid 9.8 NLRP3 MEFV
268 endosteal hyperostosis, autosomal dominant 9.8
269 sialadenitis 9.8
270 interstitial nephritis 9.8
271 nephrocalcinosis 9.8
272 osteopetrosis 9.8
273 pulmonary embolism 9.8
274 hypertrophic cardiomyopathy 9.8
275 idiopathic infantile hypercalcemia 9.8
276 pleurisy 9.8 TNF MEFV
277 q fever 9.8 TNF TLR2 NOD2 IL1B
278 stomatitis 9.7 TNF MEFV IL1B
279 adult-onset still's disease 9.7 TNF MEFV IL1B
280 palindromic rheumatism 9.7 TNF MEFV IL1B
281 brucellosis 9.7 TNF MEFV
282 relapsing fever 9.6 TNF MVK MEFV
283 psoriatic juvenile idiopathic arthritis 9.6 NOD2 NLRP3 MEFV
284 lig4 syndrome 9.5 NOD2 NLRP3
285 meningitis 9.5 TNF TLR2 NLRP3 IL1B
286 familial cold autoinflammatory syndrome 1 9.5 NLRP3 MEFV IL1B
287 malaria 9.5 TNF TLR2 NLRP3 IL1B
288 behcet syndrome 9.4 TNF NOD2 MEFV IL1B
289 primary bacterial infectious disease 9.3 TNF TLR2 MEFV IL1B
290 peritonitis 9.3 TNF TLR2 MEFV IL1B
291 bacterial infectious disease 9.3 TNF TLR2 NOD2 NOD1 IL1B
292 periodic fever, familial, autosomal dominant 9.1 TNF NLRP3 MVK MEFV
293 cervical adenitis 9.0 NLRP3 MVK MEFV IL1B
294 cinca syndrome 9.0 NLRP3 MVK MEFV IL1B
295 aphthous stomatitis 8.7 TNF TLR2 NLRP3 MEFV IL1B

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



Diseases related to Blau Syndrome

Symptoms & Phenotypes for Blau Syndrome

Human phenotypes related to Blau Syndrome:

59 32 (showing 60, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
2 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
3 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
4 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
5 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
6 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
7 keratitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000491
8 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
9 synovitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100769
10 iridocyclitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001094
11 polyarticular arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005764
12 posterior uveitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012123
13 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
14 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
15 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
16 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
17 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
18 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
19 erythema nodosum 59 32 frequent (33%) Frequent (79-30%) HP:0012219
20 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
21 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
22 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
23 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
24 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
25 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
26 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
27 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
28 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
29 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
30 xerostomia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000217
31 pericarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001701
32 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
33 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
34 abnormality of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0001392
35 retrobulbar optic neuritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100654
36 stage 5 chronic kidney disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0003774
37 aortic aneurysm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004942
38 large vessel vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005310
39 clear cell renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006770
40 abnormal choroid morphology 32 occasional (7.5%) HP:0000610
41 abnormal salivary gland morphology 32 occasional (7.5%) HP:0010286
42 abnormal retinal vascular morphology 32 occasional (7.5%) HP:0008046
43 arthritis 32 HP:0001369
44 abnormality of the retinal vasculature 59 Occasional (29-5%)
45 abnormality of the cranial nerves 59 Occasional (29-5%)
46 uveitis 32 HP:0000554
47 abnormality of the choroid 59 Occasional (29-5%)
48 eczema 32 HP:0000964
49 flexion contracture of toe 32 HP:0005830
50 abnormality of the ear 32 HP:0000598
51 abnormality of the salivary glands 59 Occasional (29-5%)
52 abnormality of the optic nerve 59 Occasional (29-5%)
53 iritis 32 HP:0001101
54 band keratopathy 32 HP:0000585
55 cystoid macular edema 32 HP:0011505
56 abnormal inflammatory response 59 Very frequent (99-80%)
57 intermittent generalized erythematous papular rash 32 HP:0007432
58 abnormal cranial nerve morphology 32 HP:0001291
59 nongranulomatous uveitis 32 HP:0007813
60 tendonitis 32 HP:0025230

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
joint swelling
tendonitis
joint contractures
granulomatous synovitis
granulomatous arthritis
more
Skeletal Hands:
camptodactyly
flexion contractures of the fingers

Skeletal Feet:
flexion contractures of the toes

Head And Neck Eyes:
glaucoma
uveitis
iritis
band keratopathy
cystoid macular edema
more
Skin Nails Hair Skin:
intermittent generalized erythematous papular rash
granulomatous dermatitis
skin ulceration
skin biopsy shows noncaseating granulomas
cysts over wrist and ankle joints

Clinical features from OMIM:

186580

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

26 (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:

46 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
2 immune system MP:0005387 9.7 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
3 integument MP:0010771 9.35 IL1B MEFV NLRP3 TLR2 TNF
4 skeleton MP:0005390 9.1 IL1B MEFV NLRP3 NOD2 TLR2 TNF

Drugs & Therapeutics for Blau Syndrome

Search Clinical Trials , NIH Clinical Center for Blau Syndrome

Genetic Tests for Blau Syndrome

Genetic tests related to Blau Syndrome:

# Genetic test Affiliating Genes
1 Blau Syndrome 29 NOD2
2 Sarcoidosis, Early-Onset 29

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

41
Skin, Eye, Kidney, Salivary Gland, Liver, Retina, Spleen

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(showing 244, show less)
# Title Authors PMID Year
1
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 9 38 8 71
19467619 2010
2
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 9 38 8 71
15459013 2005
3
CARD15 mutations in Blau syndrome. 9 38 8 71
11528384 2001
4
Leg ulcers: a new symptom of Blau syndrome? 38 8 71
18955195 2008
5
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. 8 71
15086578 2004
6
Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis. 8 71
9124059 1997
7
Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. 8 71
7825454 1994
8
A new CARD15 mutation in Blau syndrome. 9 38 71
15812565 2005
9
Blau syndrome: a new kindred. 38 8
12894082 2003
10
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. 38 8
9508240 1998
11
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. 38 8
8900239 1996
12
Liver involvement in familial granulomatous arthritis (Blau syndrome). 38 8
8882056 1996
13
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. 38 8
8394645 1993
14
NOD2-associated autoinflammatory disease: a large cohort study. 71
26070941 2015
15
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 71
23102769 2013
16
A new category of autoinflammatory disease associated with NOD2 gene mutations. 71
21914217 2011
17
Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations. 8
17698784 2007
18
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 71
15024686 2004
19
Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. 71
14765395 2004
20
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. 71
12577202 2003
21
Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. 8
12470760 2002
22
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. 71
11875755 2002
23
Sarcoidosis: a pediatric perspective. 8
9864645 1998
24
Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. 8
2391595 1990
25
Familial granulomatous arthritis, iritis, and rash. 8
4056967 1985
26
Familial granulomatous synovitis, uveitis, and cranial neuropathies. 8
3993660 1985
27
Familial granulomatous arteritis with polyarthritis of juvenile onset. 8
7053492 1982
28
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. 9 38
20052476 2010
29
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. 9 38
20084402 2010
30
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. 9 38
20199415 2010
31
Autoinflammatory syndromes behind the scenes of recurrent fevers in children. 9 38
19644432 2009
32
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. 9 38
19169908 2009
33
Nucleotide oligomerization domain-2 (NOD2)-induced uveitis: dependence on IFN-gamma. 9 38
19098321 2009
34
[Periodic fever syndrome/autoinflammatory syndrome]. 9 38
19255765 2009
35
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. 9 38
19180500 2009
36
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. 9 38
19822951 2009
37
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. 9 38
19116920 2009
38
Mutation screening of the CARD15 gene in sarcoidosis. 9 38
18384487 2008
39
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. 9 38
20298285 2007
40
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. 9 38
17916199 2007
41
NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. 9 38
17968944 2007
42
Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene. 9 38
17719742 2007
43
The Nodosome: Nod1 and Nod2 control bacterial infections and inflammation. 9 38
17690884 2007
44
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. 9 38
17393391 2007
45
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. 9 38
17372104 2007
46
NOD2/CARD15 disease associations other than Crohn's disease. 9 38
17206682 2007
47
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. 9 38
17096091 2007
48
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. 9 38
17207093 2006
49
Pediatric granulomatous arthritis: an international registry. 9 38
17009307 2006
50
Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes. 9 38
16935475 2006
51
Identification of genetic variation and putative regulatory regions in bovine CARD15. 9 38
16897345 2006
52
Functional consequences of NOD2 (CARD15) mutations. 9 38
16804402 2006
53
Human endothelial cells express NOD2/CARD15 and increase IL-6 secretion in response to muramyl dipeptide. 9 38
16414084 2006
54
The systemic autoinflammatory diseases: inborn errors of the innate immune system. 9 38
16724804 2006
55
Autoinflammatory syndromes. 9 38
16466630 2006
56
Molecular and genetic characteristics of hereditary autoinflammatory diseases. 9 38
15720239 2005
57
Blau syndrome presenting with ichthyosis. 9 38
15670175 2005
58
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. 9 38
15693102 2005
59
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. 9 38
15554080 2004
60
Analysis of CARD15 polymorphisms in Korean patients with ankylosing spondylitis reveals absence of common variants seen in western populations. 9 38
15468360 2004
61
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies? 9 38
15059033 2004
62
CARD15 gene mutations in sarcoidosis. 9 38
14621080 2003
63
Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15). 9 38
14597055 2003
64
CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. 9 38
12428248 2002
65
Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS). 38
31397119 2019
66
Sporadic Blau syndrome treated with adalimumab. 38
31232485 2019
67
Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography. 38
30989150 2019
68
An Original Description of Granulomatous Liver Cirrhosis in Blau Syndrome. 38
31154542 2019
69
A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. 38
31062074 2019
70
Blau Syndrome: Report of a Rare Entity with Congenital Ostium Secundum Atrial Septal Defect in a 7-year-old Chinese Girl. 38
31120540 2019
71
Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases. 38
31155445 2019
72
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine. 38
31084224 2019
73
S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis. 38
30406853 2019
74
Ocular Features in Chinese Patients with Blau Syndrome. 38
30806112 2019
75
NOD2 Expression in Intestinal Epithelial Cells Protects Toward the Development of Inflammation and Associated Carcinogenesis. 38
30704984 2019
76
Familial Blau syndrome:First molecularly confirmed report from India. 38
30574935 2019
77
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. 38
29933504 2018
78
PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME. 38
29210964 2018
79
Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab. 38
30249847 2018
80
Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab. 38
29570830 2018
81
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype. 38
29697845 2018
82
Blau syndrome with good Reponses to Tocilizumab: A case report and focused literature review. 38
29110911 2018
83
S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome. 38
29635517 2018
84
Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1. 38
29538758 2018
85
The Challenge of Blau Syndrome. 38
29338849 2018
86
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. 38
28887115 2018
87
A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course. 38
30693132 2018
88
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. 38
27419275 2018
89
A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome. 38
29082556 2018
90
Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages. 38
28587749 2018
91
Two Chinese pedigrees of Blau syndrome with thirteen affected members. 38
28721627 2018
92
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. 38
27625029 2018
93
Casting the critical regions in nucleotide binding oligomerization domain 2 protein: a signature mediated structural dynamics approach. 38
27790943 2017
94
The emerging role of interleukin (IL)-1 in the pathogenesis and treatment of inflammatory and degenerative eye diseases. 38
28032234 2017
95
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function. 38
28836875 2017
96
Oral Macrolides for the Dermatologic Manifestations of Blau Syndrome. 38
28724114 2017
97
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. 38
28639104 2017
98
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. 38
28750667 2017
99
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. 38
28532706 2017
100
Granulomatous & histiocytic dermatitides. 38
28094163 2017
101
Granulomatous skin involvement in a patient with an unusual NOD2 mutation. 38
26768519 2017
102
INTERMEDIATE UVEITIS ASSOCIATED WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, AND CERVICAL ADENITIS SYNDROME. 38
28570435 2017
103
Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome. 38
28604349 2017
104
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. 38
27874205 2017
105
Nod2: The intestinal gate keeper. 38
28253332 2017
106
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. 38
25381727 2017
107
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. 38
27304707 2017
108
Monogenic Auto-inflammatory Syndromes: A Review of the Literature. 38
28129677 2016
109
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. 38
28018435 2016
110
A Case of Blau Syndrome with NOD2 E383K Mutation. 38
27339507 2016
111
NOD2 genetic variants and sarcoidosis-associated uveitis. 38
29503906 2016
112
Intractable leg ulcers in Blau syndrome. 38
26969879 2016
113
Crystal structure of NOD2 and its implications in human disease. 38
27283905 2016
114
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. 38
26606664 2016
115
Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis. 38
26449230 2016
116
Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 deficiency. 38
28621099 2016
117
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. 38
27403452 2016
118
Primary immunodeficiencies associated with eosinophilia. 38
27222657 2016
119
Granulomatous disease associated with NOD2 sequence variants and familial camptodactyly: An intermediate form of NOD2-associated diseases? 38
26164256 2015
120
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. 38
26517420 2015
121
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. 38
26712281 2015
122
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome]. 38
26897858 2015
123
The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: a cohort study. 38
26438151 2015
124
Somatic NOD2 mosaicism in Blau syndrome. 38
25724124 2015
125
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 38
25416713 2015
126
Aberrant interleukin-1 signalling does not increase susceptibility of mice to NOD2-dependent uveitis. 38
25255917 2015
127
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). 38
25209167 2015
128
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome]. 38
26524899 2015
129
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 38
25829188 2015
130
Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature. 38
24445386 2015
131
Sarcoid type reaction: medical hypotheses. 38
26016966 2015
132
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. 38
26509073 2015
133
A new mutation in blau syndrome. 38
25692065 2015
134
[Immune System Reaction against Environmental Pollutants]. 38
25994342 2015
135
Mycobacterium avium ss. paratuberculosis Zoonosis - The Hundred Year War - Beyond Crohn's Disease. 38
25788897 2015
136
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. 38
25429073 2015
137
[Mutations of NOD2 gene and clinical features in Chinese Blau syndrome patients]. 38
25619344 2014
138
Insights into the molecular basis of the NOD2 signalling pathway. 38
25520185 2014
139
M. paratuberculosis and Parkinson's disease--is this a trigger. 38
25459140 2014
140
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. 38
25182201 2014
141
Noninfectious cutaneous granulomas in primary immunodeficiency disorders: report from a national registry. 38
25062261 2014
142
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 38
25093298 2014
143
Blau syndrome and latent tubercular infection: an unresolved partnership. 38
24646037 2014
144
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 38
24713464 2014
145
Granulomatous inflammation: The overlap of immune deficiency and inflammation. 38
24974058 2014
146
A case of blau syndrome. 38
24876985 2014
147
Blau syndrome, the prototypic auto-inflammatory granulomatous disease. 38
25136265 2014
148
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. 38
23896186 2013
149
Adalimumab therapy for refractory childhood uveitis. 38
24160962 2013
150
Blau syndrome-associated uveitis and the NOD2 gene. 38
24010719 2013
151
Inflammatory bowel disease: An archetype disorder of outer environment sensor systems. 38
23919214 2013
152
Nucleotide-binding oligomerization domain containing 2: structure, function, and diseases. 38
23352252 2013
153
Autoinflammatory diseases in pediatrics. 38
23827250 2013
154
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? 38
22821420 2013
155
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. 38
23699845 2013
156
[The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. 38
23678609 2013
157
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. 38
23124805 2013
158
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. 38
24282415 2013
159
A genome-wide siRNA screen reveals positive and negative regulators of the NOD2 and NF-κB signaling pathways. 38
23322906 2013
160
Ocular manifestations of the autoinflammatory syndromes. 38
22924780 2012
161
Immunohistochemical evidence of specific iris involvement in Blau syndrome. 38
23215732 2012
162
Blau syndrome, clinical and genetic aspects. 38
22884558 2012
163
Ubiquitination and phosphorylation in the regulation of NOD2 signaling and NOD2-mediated disease. 38
22522061 2012
164
Blau arteritis resembling Takayasu disease with a novel NOD2 mutation. 38
22859352 2012
165
The innate immune protein Nod2 binds directly to MDP, a bacterial cell wall fragment. 38
22857257 2012
166
Pathogen sensing by nucleotide-binding oligomerization domain-containing protein 2 (NOD2) is mediated by direct binding to muramyl dipeptide and ATP. 38
22549783 2012
167
Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways. 38
22336993 2012
168
A Potential 'Curative' Modality for Crohn's Disease---Modeled after Prophylaxis of Bovine Johne's Disease. 38
24494172 2012
169
Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. 38
22464675 2012
170
Mutational analysis of human NOD1 and NOD2 NACHT domains reveals different modes of activation. 38
21310790 2012
171
M. paratuberculosis Heat Shock Protein 65 and Human Diseases: Bridging Infection and Autoimmunity. 38
23056923 2012
172
A case of acute kidney injury with marked hyperuricemia during mizoribine administration. 38
22687797 2012
173
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 38
22509093 2012
174
Mycobacterium paratuberculosis and autism: is this a trigger? 38
21903338 2011
175
Blau syndrome. 38
20947513 2011
176
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. 38
22142748 2011
177
Blau syndrome revisited. 38
21788900 2011
178
A 60-day probiotic protocol with Dietzia subsp. C79793-74 prevents development of Johne's disease parameters after in utero and/or neonatal MAP infection. 38
21701254 2011
179
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. 38
21320290 2011
180
NOD2 deficiency results in increased susceptibility to peptidoglycan-induced uveitis in mice. 38
21296813 2011
181
The puzzling clinical spectrum and course of juvenile sarcoidosis. 38
21574025 2011
182
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. 38
21596301 2011
183
Inhibitor of apoptosis (IAP) proteins in regulation of inflammation and innate immunity. 38
21447281 2011
184
Etanercept-induced myelopathy in a pediatric case of blau syndrome. 38
22937436 2011
185
[Early-onset sarcoidosis/Blau syndrome]. 38
22041425 2011
186
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 38
20565245 2010
187
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. 38
21152214 2010
188
Nucleotide-binding oligomerization domain 2 and Toll-like receptor 2 function independently in a murine model of arthritis triggered by intraarticular peptidoglycan. 38
20131263 2010
189
Sinus of valsalva aneurysm in Blau's syndrome. 38
20346129 2010
190
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. 38
20039400 2010
191
Two pediatric cases of Blau syndrome. 38
20040255 2009
192
Interleukin-1beta suppression in Blau syndrome: comment on the article by Martin et al. 38
19644875 2009
193
[Autoinflammatory syndromes]. 38
19434382 2009
194
Activation of nucleotide oligomerization domain 2 exacerbates a murine model of proteoglycan-induced arthritis. 38
19129483 2009
195
[Autoinflammatory syndrome]. 38
19280943 2009
196
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. 38
18718560 2009
197
Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W. 38
18616576 2008
198
Environmental triggers and susceptibility factors in idiopathic granulomatous diseases. 38
19221959 2008
199
Activation of NOD2 in vivo induces IL-1beta production in the eye via caspase-1 but results in ocular inflammation independently of IL-1 signaling. 38
18495787 2008
200
Inhibition of Nod2 signaling and target gene expression by curcumin. 38
18413660 2008
201
NOD2, the gene responsible for familial granulomatous uveitis, in a mouse model of uveitis. 38
18385071 2008
202
[Hereditary systemic autoinflammatory diseases. Part II: cryopyrin-associated periodic syndromes, pediatric systemic granulomatosis and PAPA syndrome]. 38
18394369 2008
203
Analysis of the NOD2/CARD15 gene in patients affected with the aseptic abscesses syndrome with or without inflammatory bowel disease. 38
17570063 2008
204
Uveitis secondary to bacterial products. 38
18421233 2008
205
Nod1 and Nod2 in innate immunity and human inflammatory disorders. 38
18031249 2007
206
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? 38
18061972 2007
207
A novel technique for NOD2/CARD15 genotyping using PCR-SSP. 38
17719603 2007
208
Autoinflammatory syndromes with a dermatological perspective. 38
17727363 2007
209
NOD-like receptors and human diseases. 38
17376727 2007
210
[Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations]. 38
17473515 2007
211
How NOD2 mutations predispose to Crohn's disease? 38
17379562 2007
212
[Indications and adverse events with the use of anti-TNFalpha agents in pediatric rheumatology: experience of a single center]. 38
17572652 2007
213
Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation. 38
17223962 2007
214
Nod-like receptors in innate immunity and inflammatory diseases. 38
18038361 2007
215
Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. 38
16931648 2007
216
Blau syndrome associated with a CARD15/NOD2 mutation. 38
17157607 2006
217
[Blau syndrome in monozygotic twins]. 38
17069729 2006
218
[Blau syndrome--a chronic granulomatous, genetic disease]. 38
17069723 2006
219
NOD2: ethnic and geographic differences. 38
16773683 2006
220
Blau syndrome and related genetic disorders causing childhood arthritis. 38
16303101 2005
221
A role for Erbin in the regulation of Nod2-dependent NF-kappaB signaling. 38
16203728 2005
222
The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders. 38
15927452 2005
223
Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. 38
15044951 2004
224
Blau syndrome. 38
15051234 2004
225
Bupropion for Blau syndrome. 38
14962643 2004
226
Lessons from Nod2 studies: towards a link between Crohn's disease and bacterial sensing. 38
14644139 2003
227
With a mere nod, uveitis enters a new era. 38
14516815 2003
228
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 38
14522785 2003
229
Nods, Nalps and Naip: intracellular regulators of bacterial-induced inflammation. 38
12925128 2003
230
[Familial uveitis. Forms and incidence in patients at the University Eye Hospital Tubingen]. 38
14504896 2003
231
Cloning, sequencing and expression analysis of the mouse NOD2/CARD15 gene. 38
12835899 2003
232
Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. 9
12626759 2003
233
NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis. 38
12563685 2003
234
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. 38
12496512 2003
235
The autoinflammatory syndromes. 38
14752334 2002
236
[Periodic fever]. 38
12392668 2002
237
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. 38
12186634 2002
238
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. 38
12051637 2002
239
[Blau syndrome]. 38
11462436 2001
240
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. 38
19078446 2000
241
The Blau syndrome gene is not a major risk factor for sarcoidosis. 38
10560124 1999
242
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. 38
9738733 1998
243
[Blau syndrome or familial form of sarcoidosis with onset during infancy]. 38
8734114 1996
244
Blau syndrome versus sarcoidosis. 38
1880674 1991

Variations for Blau Syndrome

ClinVar genetic disease variations for Blau Syndrome:

6 (showing 239, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NOD2 NM_022162.3(NOD2): c.1538T> C (p.Met513Thr) single nucleotide variant Pathogenic rs104895473 16:50745360-50745360 16:50711449-50711449
2 NOD2 NM_022162.3(NOD2): c.1146C> G (p.Asp382Glu) single nucleotide variant Pathogenic rs104895476 16:50744968-50744968 16:50711057-50711057
3 NOD2 NM_022162.3(NOD2): c.1487A> T (p.His496Leu) single nucleotide variant Pathogenic rs104895472 16:50745309-50745309 16:50711398-50711398
4 NOD2 NM_022162.3(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 16:50756774-50756774 16:50722863-50722863
5 NOD2 NM_022162.3(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 16:50744822-50744822 16:50710911-50710911
6 NOD2 NM_022162.3(NOD2): c.1405C> T (p.Leu469Phe) single nucleotide variant Pathogenic rs104895460 16:50745227-50745227 16:50711316-50711316
7 NOD2 NM_022162.3(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 16:50744823-50744823 16:50710912-50710912
8 NOD2 NM_022162.3(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 16:50744969-50744969 16:50711058-50711058
9 NOD2 NM_022162.3(NOD2): c.2032del (p.Leu678fs) deletion Pathogenic 16:50745854-50745854 16:50711943-50711943
10 NOD2 NM_022162.3(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 16:50750810-50750810 16:50716899-50716899
11 NOD2 NM_022162.3(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 16:50745926-50745926 16:50712015-50712015
12 NOD2 NM_022162.3(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 16:50756540-50756540 16:50722629-50722629
13 NOD2 NM_022162.3(NOD2): c.3019dup (p.Leu1007fs) duplication risk factor rs2066847 16:50763781-50763781 16:50729870-50729870
14 NOD2 NM_022162.3(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 16:50745103-50745103 16:50711192-50711192
15 NOD2 NM_022162.3(NOD2): c.2546C> T (p.Ala849Val) single nucleotide variant Conflicting interpretations of pathogenicity rs104895486 16:50750581-50750581 16:50716670-50716670
16 NOD2 NM_022162.3(NOD2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104895456 16:50733738-50733738 16:50699827-50699827
17 NOD2 NM_022162.3(NOD2): c.703C> T (p.Arg235Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs104895422 16:50744525-50744525 16:50710614-50710614
18 NOD2 NM_022162.3(NOD2): c.74-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs104895421 16:50733392-50733392 16:50699481-50699481
19 NOD2 NM_022162.3(NOD2): c.931C> T (p.Arg311Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104895427 16:50744753-50744753 16:50710842-50710842
20 NOD2 NM_022162.3(NOD2): c.2107C> T (p.Arg703Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs5743277 16:50745929-50745929 16:50712018-50712018
21 NOD2 NM_022162.3(NOD2): c.484G> A (p.Val162Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139571975 16:50733809-50733809 16:50699898-50699898
22 NOD2 NM_022162.3(NOD2): c.807G> A (p.Pro269=) single nucleotide variant Conflicting interpretations of pathogenicity rs369766454 16:50744629-50744629 16:50710718-50710718
23 NOD2 NM_022162.3(NOD2): c.566C> T (p.Thr189Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61755182 16:50741791-50741791 16:50707880-50707880
24 NOD2 NM_022162.3(NOD2): c.1316G> A (p.Arg439His) single nucleotide variant Conflicting interpretations of pathogenicity rs143110172 16:50745138-50745138 16:50711227-50711227
25 NOD2 NM_022162.3(NOD2): c.1834G> T (p.Ala612Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104895438 16:50745656-50745656 16:50711745-50711745
26 NOD2 NM_022162.3(NOD2): c.2050C> T (p.Arg684Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5743276 16:50745872-50745872 16:50711961-50711961
27 NOD2 NM_022162.3(NOD2): c.2330C> A (p.Thr777Asn) single nucleotide variant Uncertain significance rs756184386 16:50746152-50746152 16:50712241-50712241
28 NOD2 NM_022162.3(NOD2): c.2365C> T (p.Leu789Phe) single nucleotide variant Uncertain significance rs773758818 16:50746187-50746187 16:50712276-50712276
29 NOD2 NM_022162.3(NOD2): c.2494A> G (p.Ile832Val) single nucleotide variant Uncertain significance rs765335094 16:50750529-50750529 16:50716618-50716618
30 NOD2 NM_022162.3(NOD2): c.2632C> T (p.Leu878=) single nucleotide variant Uncertain significance rs886052044 16:50753837-50753837 16:50719926-50719926
31 NOD2 NM_022162.3(NOD2): c.1603C> T (p.Leu535=) single nucleotide variant Uncertain significance rs145190613 16:50745425-50745425 16:50711514-50711514
32 NOD2 NM_022162.3(NOD2): c.841C> T (p.Leu281Phe) single nucleotide variant Uncertain significance rs756943416 16:50744663-50744663 16:50710752-50710752
33 NOD2 NM_022162.3(NOD2): c.1634C> T (p.Pro545Leu) single nucleotide variant Uncertain significance rs777949388 16:50745456-50745456 16:50711545-50711545
34 NOD2 NM_022162.3(NOD2): c.1856C> T (p.Ala619Val) single nucleotide variant Uncertain significance rs867131858 16:50745678-50745678 16:50711767-50711767
35 NOD2 NM_022162.3(NOD2): c.2003C> T (p.Pro668Leu) single nucleotide variant Uncertain significance rs5743275 16:50745825-50745825 16:50711914-50711914
36 NOD2 NM_022162.3(NOD2): c.*1201T> A single nucleotide variant Uncertain significance rs751525993 16:50766931-50766931 16:50733020-50733020
37 NOD2 NM_022162.3(NOD2): c.140C> T (p.Ser47Leu) single nucleotide variant Uncertain significance rs201586544 16:50733465-50733465 16:50699554-50699554
38 NOD2 NM_022162.3(NOD2): c.61G> A (p.Gly21Arg) single nucleotide variant Uncertain significance 16:50731215-50731215 16:50697304-50697304
39 NOD2 NM_022162.3(NOD2): c.82A> G (p.Met28Val) single nucleotide variant Uncertain significance 16:50733407-50733407 16:50699496-50699496
40 NOD2 NM_022162.3(NOD2): c.131T> A (p.Leu44Gln) single nucleotide variant Uncertain significance 16:50733456-50733456 16:50699545-50699545
41 NOD2 NM_022162.3(NOD2): c.200C> G (p.Ser67Cys) single nucleotide variant Uncertain significance 16:50733525-50733525 16:50699614-50699614
42 NOD2 NM_022162.3(NOD2): c.274G> T (p.Val92Phe) single nucleotide variant Uncertain significance 16:50733599-50733599 16:50699688-50699688
43 NOD2 NM_022162.3(NOD2): c.719A> G (p.Tyr240Cys) single nucleotide variant Uncertain significance 16:50744541-50744541 16:50710630-50710630
44 NOD2 NM_022162.3(NOD2): c.1019C> G (p.Ala340Gly) single nucleotide variant Uncertain significance 16:50744841-50744841 16:50710930-50710930
45 NOD2 NM_022162.3(NOD2): c.1271C> A (p.Thr424Asn) single nucleotide variant Uncertain significance 16:50745093-50745093 16:50711182-50711182
46 NOD2 NM_022162.3(NOD2): c.1295C> T (p.Ala432Val) single nucleotide variant Uncertain significance 16:50745117-50745117 16:50711206-50711206
47 NOD2 NM_022162.3(NOD2): c.1531A> G (p.Thr511Ala) single nucleotide variant Uncertain significance 16:50745353-50745353 16:50711442-50711442
48 NOD2 NM_022162.3(NOD2): c.1826T> G (p.Phe609Cys) single nucleotide variant Uncertain significance 16:50745648-50745648 16:50711737-50711737
49 NOD2 NM_022162.3(NOD2): c.2168C> T (p.Pro723Leu) single nucleotide variant Uncertain significance 16:50745990-50745990 16:50712079-50712079
50 NOD2 NM_022162.3(NOD2): c.2230C> T (p.Arg744Trp) single nucleotide variant Uncertain significance 16:50746052-50746052 16:50712141-50712141
51 NOD2 NM_022162.3(NOD2): c.2242G> A (p.Glu748Lys) single nucleotide variant Uncertain significance 16:50746064-50746064 16:50712153-50712153
52 NOD2 NM_022162.3(NOD2): c.2278C> T (p.Arg760Cys) single nucleotide variant Uncertain significance 16:50746100-50746100 16:50712189-50712189
53 NOD2 NM_022162.3(NOD2): c.2434C> T (p.Pro812Ser) single nucleotide variant Uncertain significance 16:50746256-50746256 16:50712345-50712345
54 NOD2 NM_022162.3(NOD2): c.2471A> G (p.Asp824Gly) single nucleotide variant Uncertain significance 16:50750506-50750506 16:50716595-50716595
55 NOD2 NM_022162.3(NOD2): c.2578G> A (p.Ala860Thr) single nucleotide variant Uncertain significance 16:50750833-50750833 16:50716922-50716922
56 NOD2 NM_022162.3(NOD2): c.2815A> G (p.Ile939Val) single nucleotide variant Uncertain significance 16:50757228-50757228 16:50723317-50723317
57 NOD2 NM_022162.3(NOD2): c.2923C> G (p.Leu975Val) single nucleotide variant Uncertain significance 16:50759440-50759440 16:50725529-50725529
58 NOD2 NM_022162.3(NOD2): c.2996G> C (p.Gly999Ala) single nucleotide variant Uncertain significance 16:50763758-50763758 16:50729847-50729847
59 NOD2 NM_022162.3(NOD2): c.2998G> A (p.Ala1000Thr) single nucleotide variant Uncertain significance 16:50763760-50763760 16:50729849-50729849
60 NOD2 NM_022162.3(NOD2): c.259C> T (p.Arg87Cys) single nucleotide variant Uncertain significance 16:50733584-50733584 16:50699673-50699673
61 NOD2 NM_022162.3(NOD2): c.625C> T (p.Pro209Ser) single nucleotide variant Uncertain significance 16:50741850-50741850 16:50707939-50707939
62 NOD2 NM_022162.3(NOD2): c.1969A> G (p.Ser657Gly) single nucleotide variant Uncertain significance 16:50745791-50745791 16:50711880-50711880
63 NOD2 NM_022162.3(NOD2): c.2266C> T (p.Arg756Trp) single nucleotide variant Uncertain significance 16:50746088-50746088 16:50712177-50712177
64 NOD2 NM_022162.3(NOD2): c.2267G> A (p.Arg756Gln) single nucleotide variant Uncertain significance 16:50746089-50746089 16:50712178-50712178
65 NOD2 NM_022162.3(NOD2): c.2774A> G (p.Asp925Gly) single nucleotide variant Uncertain significance 16:50756592-50756592 16:50722681-50722681
66 NOD2 NM_022162.3(NOD2): c.103C> T (p.Gln35Ter) single nucleotide variant Uncertain significance 16:50733428-50733428 16:50699517-50699517
67 NOD2 NM_022162.3(NOD2): c.1028T> C (p.Leu343Pro) single nucleotide variant Uncertain significance 16:50744850-50744850 16:50710939-50710939
68 NOD2 NM_022162.3(NOD2): c.1151T> A (p.Phe384Tyr) single nucleotide variant Uncertain significance 16:50744973-50744973 16:50711062-50711062
69 NOD2 NM_022162.3(NOD2): c.1178G> A (p.Arg393His) single nucleotide variant Uncertain significance 16:50745000-50745000 16:50711089-50711089
70 NOD2 NM_022162.3(NOD2): c.1402C> A (p.Arg468Ser) single nucleotide variant Uncertain significance 16:50745224-50745224 16:50711313-50711313
71 NOD2 NM_022162.3(NOD2): c.1573G> A (p.Ala525Thr) single nucleotide variant Uncertain significance 16:50745395-50745395 16:50711484-50711484
72 NOD2 NM_022162.3(NOD2): c.1628G> A (p.Arg543His) single nucleotide variant Uncertain significance 16:50745450-50745450 16:50711539-50711539
73 NOD2 NM_022162.3(NOD2): c.2419G> A (p.Val807Met) single nucleotide variant Uncertain significance 16:50746241-50746241 16:50712330-50712330
74 NOD2 NM_022162.3(NOD2): c.404_405AG[1] (p.His137fs) short repeat Uncertain significance 16:50733731-50733732 16:50699820-50699821
75 NOD2 NM_022162.3(NOD2): c.1515del (p.Ser506fs) deletion Uncertain significance 16:50745337-50745337 16:50711426-50711426
76 NOD2 NM_022162.3(NOD2): c.1427C> A (p.Thr476Asn) single nucleotide variant Uncertain significance 16:50745249-50745249 16:50711338-50711338
77 NOD2 NM_022162.3(NOD2): c.1494A> C (p.Glu498Asp) single nucleotide variant Uncertain significance 16:50745316-50745316 16:50711405-50711405
78 NOD2 NM_022162.3(NOD2): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance 16:50745582-50745582 16:50711671-50711671
79 NOD2 NM_022162.3(NOD2): c.2279G> A (p.Arg760His) single nucleotide variant Uncertain significance 16:50746101-50746101 16:50712190-50712190
80 NOD2 NM_022162.3(NOD2): c.2883-9T> A single nucleotide variant Uncertain significance 16:50759391-50759391 16:50725480-50725480
81 NOD2 NM_022162.3(NOD2): c.2010C> G (p.Asn670Lys) single nucleotide variant Uncertain significance 16:50745832-50745832 16:50711921-50711921
82 NOD2 NM_022162.3(NOD2): c.1610C> A (p.Pro537His) single nucleotide variant Uncertain significance 16:50745432-50745432 16:50711521-50711521
83 NOD2 NM_022162.3(NOD2): c.279G> A (p.Trp93Ter) single nucleotide variant Uncertain significance 16:50733604-50733604 16:50699693-50699693
84 NOD2 NM_022162.3(NOD2): c.1583dup (p.Asp529fs) duplication Uncertain significance 16:50745398-50745398 16:50711494-50711494
85 NOD2 NM_022162.3(NOD2): c.2740G> A (p.Glu914Lys) single nucleotide variant Uncertain significance rs758913334 16:50756558-50756558 16:50722647-50722647
86 NOD2 NM_022162.3(NOD2): c.*186C> G single nucleotide variant Uncertain significance rs886052045 16:50765916-50765916 16:50732005-50732005
87 NOD2 NM_022162.3(NOD2): c.*422C> G single nucleotide variant Uncertain significance rs886052049 16:50766152-50766152 16:50732241-50732241
88 NOD2 NM_022162.3(NOD2): c.*873C> T single nucleotide variant Uncertain significance rs373812846 16:50766603-50766603 16:50732692-50732692
89 NOD2 NM_022162.3(NOD2): c.1981G> C (p.Ala661Pro) single nucleotide variant Uncertain significance rs369957746 16:50745803-50745803 16:50711892-50711892
90 NOD2 NM_022162.3(NOD2): c.2489G> A (p.Arg830Gln) single nucleotide variant Uncertain significance rs770915641 16:50750524-50750524 16:50716613-50716613
91 NOD2 NM_022162.3(NOD2): c.*325G> A single nucleotide variant Uncertain significance rs886052046 16:50766055-50766055 16:50732144-50732144
92 NOD2 NM_022162.3(NOD2): c.*394C> T single nucleotide variant Uncertain significance rs886052048 16:50766124-50766124 16:50732213-50732213
93 NOD2 NM_022162.3(NOD2): c.*462C> A single nucleotide variant Uncertain significance rs562972090 16:50766192-50766192 16:50732281-50732281
94 NOD2 NM_022162.3(NOD2): c.1117C> T (p.Arg373Cys) single nucleotide variant Uncertain significance rs145293873 16:50744939-50744939 16:50711028-50711028
95 NOD2 NM_022162.3(NOD2): c.52G> A (p.Val18Ile) single nucleotide variant Uncertain significance rs886052043 16:50731206-50731206 16:50697295-50697295
96 NOD2 NM_022162.3(NOD2): c.*329_*334dup duplication Uncertain significance rs886052047 16:50766059-50766064 16:50732148-50732153
97 NOD2 NM_022162.3(NOD2): c.*470C> T single nucleotide variant Uncertain significance rs770461687 16:50766200-50766200 16:50732289-50732289
98 NOD2 NM_022162.3(NOD2): c.2332G> A (p.Glu778Lys) single nucleotide variant Uncertain significance rs104895443 16:50746154-50746154 16:50712243-50712243
99 NOD2 NM_022162.3(NOD2): c.1277G> A (p.Arg426His) single nucleotide variant Uncertain significance rs562225614 16:50745099-50745099 16:50711188-50711188
100 NOD2 NM_022162.3(NOD2): c.1390G> T (p.Gly464Trp) single nucleotide variant Uncertain significance rs104895492 16:50745212-50745212 16:50711301-50711301
101 NOD2 NM_022162.3(NOD2): c.1648C> G (p.Leu550Val) single nucleotide variant Uncertain significance rs104895471 16:50745470-50745470 16:50711559-50711559
102 NOD2 NM_022162.3(NOD2): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs104895432 16:50745143-50745143 16:50711232-50711232
103 NOD2 NM_022162.3(NOD2): c.1241A> G (p.Asn414Ser) single nucleotide variant Uncertain significance rs104895429 16:50745063-50745063 16:50711152-50711152
104 NOD2 NM_022162.3(NOD2): c.1509G> A (p.Glu503=) single nucleotide variant Uncertain significance rs104895434 16:50745331-50745331 16:50711420-50711420
105 NOD2 NM_022162.3(NOD2): c.2137C> T (p.Arg713Cys) single nucleotide variant Uncertain significance rs104895440 16:50745959-50745959 16:50712048-50712048
106 NOD2 NM_022162.3(NOD2): c.2138G> A (p.Arg713His) single nucleotide variant Uncertain significance rs104895483 16:50745960-50745960 16:50712049-50712049
107 NOD2 NM_022162.3(NOD2): c.2180C> T (p.Pro727Leu) single nucleotide variant Uncertain significance rs104895489 16:50746002-50746002 16:50712091-50712091
108 NOD2 NM_022162.3(NOD2): c.1540T> C (p.Tyr514His) single nucleotide variant Uncertain significance rs540122692 16:50745362-50745362 16:50711451-50711451
109 NOD2 NM_022162.3(NOD2): c.2038G> A (p.Gly680Arg) single nucleotide variant Uncertain significance rs371339573 16:50745860-50745860 16:50711949-50711949
110 NOD2 NM_022162.3(NOD2): c.127G> A (p.Glu43Lys) single nucleotide variant Uncertain significance rs200089552 16:50733452-50733452 16:50699541-50699541
111 NOD2 NM_022162.3(NOD2): c.7G> C (p.Glu3Gln) single nucleotide variant Uncertain significance rs976567823 16:50731161-50731161 16:50697250-50697250
112 NOD2 NM_022162.3(NOD2): c.314C> T (p.Ala105Val) single nucleotide variant Uncertain significance rs202052365 16:50733639-50733639 16:50699728-50699728
113 NOD2 NM_022162.3(NOD2): c.698A> C (p.Gln233Pro) single nucleotide variant Uncertain significance rs369098290 16:50744520-50744520 16:50710609-50710609
114 NOD2 NM_022162.3(NOD2): c.712A> T (p.Ser238Cys) single nucleotide variant Uncertain significance rs1001861018 16:50744534-50744534 16:50710623-50710623
115 NOD2 NM_022162.3(NOD2): c.1279C> T (p.Pro427Ser) single nucleotide variant Uncertain significance rs760982375 16:50745101-50745101 16:50711190-50711190
116 NOD2 NM_022162.3(NOD2): c.1515dup (p.Ser506fs) duplication Uncertain significance rs754761524 16:50745337-50745337 16:50711426-50711426
117 NOD2 NM_022162.3(NOD2): c.2921C> T (p.Ser974Phe) single nucleotide variant Uncertain significance rs200463498 16:50759438-50759438 16:50725527-50725527
118 NOD2 NM_022162.3(NOD2): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765406921 16:50731156-50731156 16:50697245-50697245
119 NOD2 NM_022162.3(NOD2): c.476G> A (p.Arg159Gln) single nucleotide variant Uncertain significance rs150996156 16:50733801-50733801 16:50699890-50699890
120 NOD2 NM_022162.3(NOD2): c.2658G> A (p.Ala886=) single nucleotide variant Uncertain significance rs1417676866 16:50753863-50753863 16:50719952-50719952
121 NOD2 NM_022162.3(NOD2): c.746A> G (p.Glu249Gly) single nucleotide variant Uncertain significance rs117836686 16:50744568-50744568 16:50710657-50710657
122 NOD2 NM_022162.3(NOD2): c.1190C> T (p.Pro397Leu) single nucleotide variant Uncertain significance rs150078153 16:50745012-50745012 16:50711101-50711101
123 NOD2 NM_022162.3(NOD2): c.2888A> G (p.Glu963Gly) single nucleotide variant Uncertain significance rs1555501675 16:50759405-50759405 16:50725494-50725494
124 NOD2 NM_022162.3(NOD2): c.2926G> A (p.Ala976Thr) single nucleotide variant Uncertain significance rs148561632 16:50759443-50759443 16:50725532-50725532
125 NOD2 NM_022162.3(NOD2): c.2699C> T (p.Ser900Phe) single nucleotide variant Uncertain significance rs199552944 16:50753904-50753904 16:50719993-50719993
126 NOD2 NM_022162.3(NOD2): c.1087A> T (p.Ile363Phe) single nucleotide variant Uncertain significance rs104895470 16:50744909-50744909 16:50710998-50710998
127 NOD2 NM_022162.3(NOD2): c.921G> A (p.Thr307=) single nucleotide variant Likely benign rs376601025 16:50744743-50744743 16:50710832-50710832
128 NOD2 NM_022162.3(NOD2): c.126C> T (p.Val42=) single nucleotide variant Likely benign rs766815592 16:50733451-50733451 16:50699540-50699540
129 NOD2 NM_022162.3(NOD2): c.374C> T (p.Pro125Leu) single nucleotide variant Likely benign rs149390911 16:50733699-50733699 16:50699788-50699788
130 NOD2 NM_022162.3(NOD2): c.1836G> A (p.Ala612=) single nucleotide variant Likely benign rs756626309 16:50745658-50745658 16:50711747-50711747
131 NOD2 NM_022162.3(NOD2): c.2733G> A (p.Val911=) single nucleotide variant Likely benign rs1359941511 16:50756551-50756551 16:50722640-50722640
132 NOD2 NM_022162.3(NOD2): c.1578C> G (p.Thr526=) single nucleotide variant Likely benign rs779950802 16:50745400-50745400 16:50711489-50711489
133 NOD2 NM_022162.3(NOD2): c.1280C> T (p.Pro427Leu) single nucleotide variant Likely benign rs766651775 16:50745102-50745102 16:50711191-50711191
134 NOD2 NM_022162.3(NOD2): c.1292C> T (p.Ser431Leu) single nucleotide variant Likely benign rs104895431 16:50745114-50745114 16:50711203-50711203
135 NOD2 NM_022162.3(NOD2): c.1834G> A (p.Ala612Thr) single nucleotide variant Likely benign rs104895438 16:50745656-50745656 16:50711745-50711745
136 NOD2 NM_022162.3(NOD2): c.2377G> A (p.Val793Met) single nucleotide variant Likely benign rs104895444 16:50746199-50746199 16:50712288-50712288
137 NOD2 NM_022162.3(NOD2): c.2406G> T (p.Val802=) single nucleotide variant Likely benign rs104895495 16:50746228-50746228 16:50712317-50712317
138 NOD2 NM_022162.3(NOD2): c.2753C> A (p.Ala918Asp) single nucleotide variant Likely benign rs104895452 16:50756571-50756571 16:50722660-50722660
139 NOD2 NM_022162.3(NOD2): c.2147G> A (p.Arg716His) single nucleotide variant Likely benign rs200035357 16:50745969-50745969 16:50712058-50712058
140 NOD2 NM_022162.3(NOD2): c.2264C> T (p.Ala755Val) single nucleotide variant Likely benign rs61747625 16:50746086-50746086 16:50712175-50712175
141 NOD2 NM_022162.3(NOD2): c.2463-9T> A single nucleotide variant Likely benign rs201759367 16:50750489-50750489 16:50716578-50716578
142 NOD2 NM_022162.3(NOD2): c.2704C> A (p.Gln902Lys) single nucleotide variant Likely benign rs201035873 16:50753909-50753909 16:50719998-50719998
143 NOD2 NM_022162.3(NOD2): c.*89C> T single nucleotide variant Likely benign rs184545855 16:50765819-50765819 16:50731908-50731908
144 NOD2 NM_022162.3(NOD2): c.274G> A (p.Val92Ile) single nucleotide variant Likely benign rs187264529 16:50733599-50733599 16:50699688-50699688
145 NOD2 NM_022162.3(NOD2): c.460G> A (p.Asp154Asn) single nucleotide variant Likely benign rs146054564 16:50733785-50733785 16:50699874-50699874
146 NOD2 NM_022162.3(NOD2): c.531G> A (p.Pro177=) single nucleotide variant Likely benign rs775281342 16:50733856-50733856 16:50699945-50699945
147 NOD2 NM_022162.3(NOD2): c.646+15T> C single nucleotide variant Likely benign rs765487015 16:50741886-50741886 16:50707975-50707975
148 NOD2 NM_022162.3(NOD2): c.859C> T (p.His287Tyr) single nucleotide variant Likely benign rs560242309 16:50744681-50744681 16:50710770-50710770
149 NOD2 NM_022162.3(NOD2): c.875C> T (p.Ala292Val) single nucleotide variant Likely benign rs149338478 16:50744697-50744697 16:50710786-50710786
150 NOD2 NM_022162.3(NOD2): c.881C> G (p.Thr294Ser) single nucleotide variant Likely benign rs104895425 16:50744703-50744703 16:50710792-50710792
151 NOD2 NM_022162.3(NOD2): c.633C> T (p.Ala211=) single nucleotide variant Likely benign rs5743269 16:50741858-50741858 16:50707947-50707947
152 NOD2 NM_022162.3(NOD2): c.*620G> A single nucleotide variant Likely benign rs116213743 16:50766350-50766350 16:50732439-50732439
153 NOD2 NM_022162.3(NOD2): c.-53C> T single nucleotide variant Likely benign rs188341692 16:50731102-50731102 16:50697191-50697191
154 NOD2 NM_022162.3(NOD2): c.-14C> T single nucleotide variant Likely benign rs117611225 16:50731141-50731141 16:50697230-50697230
155 NOD2 NM_022162.3(NOD2): c.*877C> A single nucleotide variant Likely benign rs140643942 16:50766607-50766607 16:50732696-50732696
156 NOD2 NM_022162.3(NOD2): c.*990T> C single nucleotide variant Likely benign rs192842874 16:50766720-50766720 16:50732809-50732809
157 NOD2 NM_022162.3(NOD2): c.*521C> T single nucleotide variant Likely benign rs5743297 16:50766251-50766251 16:50732340-50732340
158 NOD2 NM_022162.3(NOD2): c.-58T> C single nucleotide variant Likely benign rs139485985 16:50731097-50731097 16:50697186-50697186
159 NOD2 NM_022162.3(NOD2): c.2046G> T (p.Leu682Phe) single nucleotide variant Likely benign rs149002807 16:50745868-50745868 16:50711957-50711957
160 NOD2 NM_022162.3(NOD2): c.3094G> A (p.Gly1032Ser) single nucleotide variant Likely benign rs147874812 16:50765701-50765701 16:50731790-50731790
161 NOD2 NM_022162.3(NOD2): c.*382C> T single nucleotide variant Likely benign rs535063121 16:50766112-50766112 16:50732201-50732201
162 NOD2 NM_022162.3(NOD2): c.*1023C> T single nucleotide variant Likely benign rs5743299 16:50766753-50766753 16:50732842-50732842
163 NOD2 NM_022162.3(NOD2): c.1689C> T (p.Tyr563=) single nucleotide variant Likely benign rs111608429 16:50745511-50745511 16:50711600-50711600
164 NOD2 NM_022162.3(NOD2): c.734C> T (p.Thr245Met) single nucleotide variant Likely benign rs148516118 16:50744556-50744556 16:50710645-50710645
165 NOD2 NM_022162.3(NOD2): c.-96del deletion Likely benign rs5743265 16:50731059-50731059 16:50697148-50697148
166 NOD2 NM_022162.3(NOD2): c.1839C> T (p.Phe613=) single nucleotide variant Likely benign rs149870902 16:50745661-50745661 16:50711750-50711750
167 NOD2 NM_022162.3(NOD2): c.828G> A (p.Leu276=) single nucleotide variant Likely benign rs763504952 16:50744650-50744650 16:50710739-50710739
168 NOD2 NM_022162.3(NOD2): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs554887705 16:50744994-50744994 16:50711083-50711083
169 NOD2 NM_022162.3(NOD2): c.1411C> T (p.Arg471Cys) single nucleotide variant Likely benign rs1078327 16:50745233-50745233 16:50711322-50711322
170 NOD2 NM_022162.3(NOD2): c.2712G> A (p.Leu904=) single nucleotide variant Likely benign rs142559533 16:50753917-50753917 16:50720006-50720006
171 NOD2 NM_022162.3(NOD2): c.2547-11G> T single nucleotide variant Likely benign rs5743285 16:50750791-50750791 16:50716880-50716880
172 NOD2 NM_022162.3(NOD2): c.2462+10A> C single nucleotide variant Likely benign rs72796353 16:50746294-50746294 16:50712383-50712383
173 NOD2 NM_022162.3(NOD2): c.866A> G (p.Asn289Ser) single nucleotide variant Benign/Likely benign rs5743271 16:50744688-50744688 16:50710777-50710777
174 NOD2 NM_022162.3(NOD2): c.1269G> T (p.Val423=) single nucleotide variant Benign/Likely benign rs77966199 16:50745091-50745091 16:50711180-50711180
175 NOD2 NM_022162.3(NOD2): c.541-3T> C single nucleotide variant Benign/Likely benign rs141833420 16:50741763-50741763 16:50707852-50707852
176 NOD2 NM_022162.3(NOD2): c.1833C> T (p.Ala611=) single nucleotide variant Benign/Likely benign rs61736932 16:50745655-50745655 16:50711744-50711744
177 NOD2 NM_022162.3(NOD2): c.2123G> A (p.Arg708His) single nucleotide variant Benign/Likely benign rs35285618 16:50745945-50745945 16:50712034-50712034
178 NOD2 NM_022162.3(NOD2): c.2863G> A (p.Val955Ile) single nucleotide variant Benign/Likely benign rs5743291 16:50757276-50757276 16:50723365-50723365
179 NOD2 NM_022162.3(NOD2): c.2372G> A (p.Arg791Gln) single nucleotide variant Benign/Likely benign rs104895464 16:50746194-50746194 16:50712283-50712283
180 NOD2 NM_022162.3(NOD2): c.2587A> G (p.Met863Val) single nucleotide variant Benign/Likely benign rs104895447 16:50750842-50750842 16:50716931-50716931
181 NOD2 NM_022162.3(NOD2): c.743T> G (p.Leu248Arg) single nucleotide variant Benign rs104895423 16:50744565-50744565 16:50710654-50710654
182 NOD2 NM_022162.3(NOD2): c.2174C> G (p.Ala725Gly) single nucleotide variant Benign rs5743278 16:50745996-50745996 16:50712085-50712085
183 NOD2 NM_022162.3(NOD2): c.*1156G> A single nucleotide variant Benign rs3135500 16:50766886-50766886 16:50732975-50732975
184 NOD2 NM_022162.3(NOD2): c.*397A> C single nucleotide variant Benign rs3135499 16:50766127-50766127 16:50732216-50732216
185 NOD2 NM_022162.3(NOD2): c.-59G> A single nucleotide variant Benign rs2076752 16:50731096-50731096 16:50697185-50697185
186 NOD2 NM_022162.3(NOD2): c.1788G> A (p.Thr596=) single nucleotide variant Benign rs104895437 16:50745610-50745610 16:50711699-50711699
187 NOD2 NM_022162.3(NOD2): c.418G> A (p.Ala140Thr) single nucleotide variant Benign rs34684955 16:50733743-50733743 16:50699832-50699832
188 NOD2 NM_022162.3(NOD2): c.1453C> T (p.Leu485=) single nucleotide variant Benign rs5743274 16:50745275-50745275 16:50711364-50711364
189 NOD2 NM_022162.3(NOD2): c.1055A> G (p.His352Arg) single nucleotide variant Benign rs5743272 16:50744877-50744877 16:50710966-50710966
190 NOD2 NM_022162.3(NOD2): c.2369G> A (p.Arg790Gln) single nucleotide variant Benign rs5743279 16:50746191-50746191 16:50712280-50712280
191 NOD2 NM_022162.3(NOD2): c.816C> T (p.Ser272=) single nucleotide variant Benign rs35090774 16:50744638-50744638 16:50710727-50710727
192 NOD2 NM_022162.3(NOD2): c.1377C> T (p.Arg459=) single nucleotide variant Benign rs2066843 16:50745199-50745199 16:50711288-50711288
193 NOD2 NM_022162.3(NOD2): c.1761T> G (p.Arg587=) single nucleotide variant Benign rs1861759 16:50745583-50745583 16:50711672-50711672
194 NOD2 NM_022162.3(NOD2): c.534C> G (p.Ser178=) single nucleotide variant Benign rs2067085 16:50733859-50733859 16:50699948-50699948
195 NOD2 NM_022162.3(NOD2): c.802C> T (p.Pro268Ser) single nucleotide variant Benign rs2066842 16:50744624-50744624 16:50710713-50710713
196 NOD2 NM_022162.3(NOD2): c.113G> T (p.Arg38Met) single nucleotide variant not provided rs104895487 16:50733438-50733438 16:50699527-50699527
197 NOD2 NM_022162.3(NOD2): c.1148A> G (p.Glu383Gly) single nucleotide variant not provided rs104895493 16:50744970-50744970 16:50711059-50711059
198 NOD2 NM_022162.3(NOD2): c.1171C> T (p.Arg391Cys) single nucleotide variant not provided rs104895481 16:50744993-50744993 16:50711082-50711082
199 NOD2 NM_022162.3(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 16:50745188-50745188 16:50711277-50711277
200 NOD2 NM_022162.3(NOD2): c.*9G> A single nucleotide variant not provided rs104895459 16:50765739-50765739 16:50731828-50731828
201 NOD2 NM_022162.3(NOD2): c.1042C> G (p.Leu348Val) single nucleotide variant not provided rs104895428 16:50744864-50744864 16:50710953-50710953
202 NOD2 NM_022162.3(NOD2): c.1065G> A (p.Trp355Ter) single nucleotide variant not provided rs104895488 16:50744887-50744887 16:50710976-50710976
203 NOD2 NM_022162.3(NOD2): c.1070A> C (p.Asp357Ala) single nucleotide variant not provided rs104895469 16:50744892-50744892 16:50710981-50710981
204 NOD2 NM_022162.3(NOD2): c.1813A> C (p.Thr605Pro) single nucleotide variant not provided rs104895474 16:50745635-50745635 16:50711724-50711724
205 NOD2 NM_022162.3(NOD2): c.1835C> T (p.Ala612Val) single nucleotide variant not provided rs104895439 16:50745657-50745657 16:50711746-50711746
206 NOD2 NM_022162.3(NOD2): c.2010C> A (p.Asn670Lys) single nucleotide variant not provided rs104895475 16:50745832-50745832 16:50711921-50711921
207 NOD2 NM_022162.3(NOD2): c.2220C> T (p.Ile740=) single nucleotide variant not provided rs104895441 16:50746042-50746042 16:50712131-50712131
208 NOD2 NM_022162.3(NOD2): c.2273C> T (p.Ala758Val) single nucleotide variant not provided rs104895442 16:50746095-50746095 16:50712184-50712184
209 NOD2 NM_022162.3(NOD2): c.1442G> A (p.Gly481Asp) single nucleotide variant not provided rs104895494 16:50745264-50745264 16:50711353-50711353
210 NOD2 NM_022162.3(NOD2): c.1469G> T (p.Trp490Leu) single nucleotide variant not provided rs104895480 16:50745291-50745291 16:50711380-50711380
211 NOD2 NM_022162.3(NOD2): c.1484G> A (p.Cys495Tyr) single nucleotide variant not provided rs104895478 16:50745306-50745306 16:50711395-50711395
212 NOD2 NM_022162.3(NOD2): c.1387C> G (p.Pro463Ala) single nucleotide variant not provided rs104895482 16:50745209-50745209 16:50711298-50711298
213 NOD2 NM_022162.3(NOD2): c.1672_1677del (p.Leu558_Gly559del) deletion not provided rs104895436 16:50745494-50745499 16:50711583-50711588
214 NOD2 NM_022162.3(NOD2): c.1759C> T (p.Arg587Cys) single nucleotide variant not provided rs104895479 16:50745581-50745581 16:50711670-50711670
215 NOD2 NM_022162.3(NOD2): c.1581C> G (p.Pro527=) single nucleotide variant not provided rs104895435 16:50745403-50745403 16:50711492-50711492
216 NOD2 NM_022162.3(NOD2): c.902C> T (p.Ala301Val) single nucleotide variant not provided rs104895426 16:50744724-50744724 16:50710813-50710813
217 NOD2 NM_022162.3(NOD2): c.357G> T (p.Leu119=) single nucleotide variant not provided rs672601267 16:50733682-50733682 16:50699771-50699771
218 NOD2 NM_022162.3(NOD2): c.871G> A (p.Asp291Asn) single nucleotide variant not provided rs104895424 16:50744693-50744693 16:50710782-50710782
219 NOD2 NM_022162.3(NOD2): c.2771G> A (p.Gly924Asp) single nucleotide variant not provided rs104895453 16:50756589-50756589 16:50722678-50722678
220 NOD2 NM_022162.3(NOD2): c.2817T> C (p.Ile939=) single nucleotide variant not provided rs104895454 16:50757230-50757230 16:50723319-50723319
221 NOD2 NM_022162.3(NOD2): c.469T> C (p.Trp157Arg) single nucleotide variant not provided rs104895420 16:50733794-50733794 16:50699883-50699883
222 NOD2 NM_022162.3(NOD2): c.2914G> A (p.Val972Ile) single nucleotide variant not provided rs104895455 16:50759431-50759431 16:50725520-50725520
223 NOD2 NM_022162.3(NOD2): c.2925C> T (p.Leu975=) single nucleotide variant not provided rs104895463 16:50759442-50759442 16:50725531-50725531
224 NOD2 NM_022162.3(NOD2): c.2933G> A (p.Gly978Glu) single nucleotide variant not provided rs104895457 16:50759450-50759450 16:50725539-50725539
225 NOD2 NM_022162.3(NOD2): c.3051-102C> G single nucleotide variant not provided rs104895458 16:50765556-50765556 16:50731645-50731645
226 NOD2 NM_022162.3(NOD2): c.3055C> T (p.Arg1019Ter) single nucleotide variant not provided rs104895491 16:50765662-50765662 16:50731751-50731751
227 NOD2 NM_022162.3(NOD2): c.315G> A (p.Ala105=) single nucleotide variant not provided rs104895419 16:50733640-50733640 16:50699729-50699729
228 NOD2 NM_022162.3(NOD2): c.337G> A (p.Asp113Asn) single nucleotide variant not provided rs104895468 16:50733662-50733662 16:50699751-50699751
229 NOD2 NM_022162.3(NOD2): c.2619C> T (p.Phe873=) single nucleotide variant not provided rs104895448 16:50750874-50750874 16:50716963-50716963
230 NOD2 NM_022162.3(NOD2): c.2630+35T> A single nucleotide variant not provided rs104895449 16:50750920-50750920 16:50717009-50717009
231 NOD2 NM_022162.3(NOD2): c.2631-5T> C single nucleotide variant not provided rs104895450 16:50753831-50753831 16:50719920-50719920
232 NOD2 NM_022162.3(NOD2): c.2715-75G> A single nucleotide variant not provided rs104895466 16:50756458-50756458 16:50722547-50722547
233 NOD2 NM_022162.3(NOD2): c.2719T> C (p.Trp907Arg) single nucleotide variant not provided rs104895490 16:50756537-50756537 16:50722626-50722626
234 NOD2 NM_022162.3(NOD2): c.2739C> T (p.Asp913=) single nucleotide variant not provided rs104895451 16:50756557-50756557 16:50722646-50722646
235 NOD2 NM_022162.3(NOD2): c.2558A> G (p.Asn853Ser) single nucleotide variant not provided rs104895446 16:50750813-50750813 16:50716902-50716902
236 NOD2 NM_022162.3(NOD2): c.2475C> G (p.Asn825Lys) single nucleotide variant not provided rs104895485 16:50750510-50750510 16:50716599-50716599
237 NOD2 NM_022162.3(NOD2): c.2527G> A (p.Glu843Lys) single nucleotide variant not provided rs104895445 16:50750562-50750562 16:50716651-50716651
238 NOD2 NM_022162.3(NOD2): c.2715-81G> A single nucleotide variant not provided rs104895465 16:50756452-50756452 16:50722541-50722541
239 NOD2 NM_022162.3(NOD2): c.2371C> T (p.Arg791Trp) single nucleotide variant not provided rs104895484 16:50746193-50746193 16:50712282-50712282

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

74 (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

Expression for Blau Syndrome

Search GEO for disease gene expression data for Blau Syndrome.

Pathways for Blau Syndrome

Pathways related to Blau Syndrome according to KEGG:

37 (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 37, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 TNF TLR2 NOD2 NOD1 NLRP3 MEFV
2
Show member pathways
12.43 TNF TLR2 NOD2 NOD1 NLRP3 MEFV
3
Show member pathways
12.33 TNF TLR2 NOD2 IL1B
4 12.29 TNF TLR2 NOD1 IL1B
5
Show member pathways
12.14 TNF TLR2 IL1B
6
Show member pathways
12.11 NOD2 NOD1 IL1B
7
Show member pathways
12.07 TNF TLR2 IL1B
8
Show member pathways
12.03 TNF TLR2 IL1B
9
Show member pathways
12.01 TNF NLRP3 IL1B
10
Show member pathways
12.01 TNF NLRP3 IL1B
11
Show member pathways
11.98 TNF TLR2 IL1B
12 11.92 TNF TLR2 NOD2 IL1B
13
Show member pathways
11.85 TNF TLR2 IL1B
14
Show member pathways
11.82 TNF TLR2 IL1B
15 11.76 TNF NOD2 IL1B
16 11.71 TNF TLR2 IL1B
17 11.65 TNF TLR2 IL1B
18
Show member pathways
11.62 NOD2 NOD1 NLRP3 MEFV
19 11.38 TNF TLR2 IL1B
20 11.36 TNF IL1B
21 11.35 TNF IL1B
22 11.34 TNF NOD1 NLRP3 IL1B
23 11.32 TNF IL1B
24
Show member pathways
11.3 TNF IL1B
25 11.3 TNF TLR2 IL1B
26 11.26 TNF TLR2 IL1B
27 11.23 NOD2 NOD1
28 11.22 TNF IL1B
29 11.2 TNF IL1B
30 11.15 TNF IL1B
31 11.13 TNF IL1B
32 11.1 TNF IL1B
33 10.98 TNF NOD2
34 10.95 TNF IL1B
35 10.9 TLR2 NLRP3 IL1B
36 10.77 TNF IL1B
37 10.63 NOD2 NOD1 NLRP3 MEFV IL1B

GO Terms for Blau Syndrome

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

(showing 62, show less)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.97 TLR2 NOD2 NOD1 NLRP3 MEFV
2 innate immune response GO:0045087 9.95 TLR2 NOD2 NOD1 NLRP3 MEFV
3 defense response to bacterium GO:0042742 9.9 TNF NOD2 NOD1
4 inflammatory response GO:0006954 9.88 TNF TLR2 NOD1 NLRP3 MEFV IL1B
5 negative regulation of inflammatory response GO:0050728 9.85 NLRP3 MVK MEFV
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.84 TNF NOD1 NLRP3
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.84 TNF NOD2 NOD1 IL1B
8 protein complex oligomerization GO:0051259 9.82 NOD2 NOD1 NLRP3
9 regulation of inflammatory response GO:0050727 9.81 TNF NOD2 NLRP3
10 cellular response to organic cyclic compound GO:0071407 9.81 TNF NOD2 IL1B
11 cellular response to lipopolysaccharide GO:0071222 9.81 TNF NOD2 NLRP3 IL1B
12 defense response GO:0006952 9.8 TNF NOD2 NOD1 NLRP3
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 TNF NOD2 NOD1
14 activation of MAPK activity GO:0000187 9.78 TNF NOD2 NOD1 IL1B
15 positive regulation of tumor necrosis factor production GO:0032760 9.77 TLR2 NOD2 NOD1
16 JNK cascade GO:0007254 9.77 TNF NOD2 NOD1
17 interleukin-1-mediated signaling pathway GO:0070498 9.76 NOD2 NOD1 IL1B
18 defense response to Gram-positive bacterium GO:0050830 9.76 TNF TLR2 NOD1 NLRP3
19 positive regulation of interferon-gamma production GO:0032729 9.73 TNF IL1B
20 positive regulation of nitric oxide biosynthetic process GO:0045429 9.73 TNF IL1B
21 protein kinase B signaling GO:0043491 9.73 TNF IL1B
22 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.73 TNF NOD1 NLRP3
23 positive regulation of JNK cascade GO:0046330 9.73 TNF NOD2 NOD1 IL1B
24 positive regulation of phagocytosis GO:0050766 9.72 TNF IL1B
25 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.72 TNF IL1B
26 positive regulation of interleukin-1 beta secretion GO:0050718 9.72 NOD2 NLRP3
27 negative regulation of neurogenesis GO:0050768 9.71 TNF IL1B
28 positive regulation of interleukin-10 production GO:0032733 9.71 TLR2 NOD2
29 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.71 NOD2 NOD1
30 positive regulation of stress-activated MAPK cascade GO:0032874 9.71 NOD2 NOD1
31 positive regulation of chemokine production GO:0032722 9.71 TNF TLR2
32 microglial cell activation GO:0001774 9.7 TNF TLR2
33 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.7 TNF IL1B
34 positive regulation of glial cell proliferation GO:0060252 9.7 TNF IL1B
35 negative regulation of lipid catabolic process GO:0050995 9.7 TNF IL1B
36 lipopolysaccharide-mediated signaling pathway GO:0031663 9.7 TNF TLR2 IL1B
37 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.69 TNF IL1B
38 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 TNF IL1B
39 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.69 TLR2 NOD2
40 positive regulation of interleukin-1 beta production GO:0032731 9.68 NOD2 NOD1
41 detection of bacterium GO:0016045 9.68 NOD2 NOD1
42 cellular response to muramyl dipeptide GO:0071225 9.67 NOD2 NOD1
43 positive regulation of chemokine biosynthetic process GO:0045080 9.67 TNF IL1B
44 positive regulation of interleukin-8 production GO:0032757 9.67 TNF TLR2 NOD2 IL1B
45 regulation of establishment of endothelial barrier GO:1903140 9.66 TNF IL1B
46 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.66 NOD2 NOD1
47 positive regulation of type 2 immune response GO:0002830 9.65 NOD2 NLRP3
48 positive regulation of neuroinflammatory response GO:0150078 9.65 TNF IL1B
49 cellular response to peptidoglycan GO:0071224 9.65 NOD2 NLRP3
50 positive regulation of fever generation GO:0031622 9.63 TNF IL1B
51 interleukin-1 beta production GO:0032611 9.62 NLRP3 IL1B
52 sequestering of triglyceride GO:0030730 9.62 TNF IL1B
53 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 TNF IL1B
54 positive regulation of interleukin-6 production GO:0032755 9.55 TNF TLR2 NOD2 NOD1 IL1B
55 detection of biotic stimulus GO:0009595 9.5 NOD2 NOD1 NLRP3
56 positive regulation of JUN kinase activity GO:0043507 9.43 TNF
57 cytokine secretion involved in immune response GO:0002374 9.43 TLR2 NOD2 NLRP3
58 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.35 TNF TLR2 NOD2 NOD1 IL1B
59 chronic inflammatory response to antigenic stimulus GO:0002439 9.31 TNF
60 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.1 TNF TLR2 NOD2 NOD1 NLRP3 IL1B
61 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 TNF TLR2 NOD2 NLRP3 IL1B
62 apoptotic process GO:0006915 10.02 TLR2 NOD1 NLRP3 IL1B

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

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.43 TLR2 NOD2 NOD1
2 identical protein binding GO:0042802 9.43 TNF TLR2 NOD1 NLRP3 MVK MEFV
3 CARD domain binding GO:0050700 9.16 NOD2 NOD1
4 peptidoglycan binding GO:0042834 8.92 TLR2 NOD2 NOD1 NLRP3

Sources for Blau Syndrome

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