BSCR
MCID: BRD025
MIFTS: 49

Birdshot Chorioretinopathy (BSCR)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Birdshot Chorioretinopathy

MalaCards integrated aliases for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 56 12 74 52 58 15 71
Birdshot Chorioretinitis 12 52 58 71
Birdshot Retinochoroidopathy 12 52 58
Birdshot Retinochoroiditis 12 52 58
Vitiliginous Choroiditis 12 52 58
Bscr 56 12 52
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 52

Characteristics:

Orphanet epidemiological data:

58
birdshot chorioretinopathy
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
birdshot chorioretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111079
OMIM 56 605808
MeSH 43 C537630
MESH via Orphanet 44 C537630
ICD10 via Orphanet 33 H30.1
UMLS via Orphanet 72 C1853959
Orphanet 58 ORPHA179
MedGen 41 C1853959
UMLS 71 C0339402 C1853959

Summaries for Birdshot Chorioretinopathy

NIH Rare Diseases : 52 Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina . These spots are scattered in a "birdshot" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness , and other vision problems. Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities. The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease . Treatment may include medications that aim to regulate the body's immune response .

MalaCards based summary : Birdshot Chorioretinopathy, also known as birdshot chorioretinitis, is related to chorioretinitis and iridocyclitis. An important gene associated with Birdshot Chorioretinopathy is HLA-A (Major Histocompatibility Complex, Class I, A), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and t cells, and related phenotypes are visual loss and vitritis

Disease Ontology : 12 A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.

Wikipedia : 74 Birdshot chorioretinopathy now commonly named "birdshot uveitis" or "HLA-A29 uveitis" is a rare form of... more...

More information from OMIM: 605808

Related Diseases for Birdshot Chorioretinopathy

Diseases related to Birdshot Chorioretinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 chorioretinitis 30.9 MRAP IL17A
2 iridocyclitis 30.6 MRAP IL17A
3 pars planitis 30.4 MRAP HLA-A CCR6
4 retinal vasculitis 30.2 MRAP CCR6
5 sarcoidosis 1 30.0 MRAP HLA-A CCR6
6 scleritis 30.0 MRAP CCR6
7 pustulosis of palm and sole 29.9 MRAP IL17A CCR6
8 vogt-koyanagi-harada disease 29.8 KIR3DL1 KIR2DL1 IL17A HLA-C HLA-A
9 spondyloarthropathy 29.8 KIR3DL1 KIR2DL1 IL17A HLA-C HLA-A
10 iritis 29.8 MRAP ERAP1 CCR6
11 spondyloarthropathy 1 29.6 MRAP IL17A ERAP1 CCR6
12 spondylitis 29.5 IL17A HLA-C ERAP2 ERAP1 CCR6
13 psoriasis 29.4 KIR3DL1 IL17A HLA-C HLA-A CCR6
14 panuveitis 29.1 MRAP IL17A ERAP2 ERAP1 CCR6
15 syphilis 28.9 MRAP KIR2DS4 IL17A HLA-C CCR6
16 uveitis 10.9
17 macular retinal edema 10.8
18 vasculitis 10.8
19 posterior uveitis 10.7
20 retinal vascular disease 10.6
21 retinitis pigmentosa 10.5
22 autoimmune disease 10.4
23 retinal detachment 10.4
24 posterior scleritis 10.4
25 choroiditis 10.4
26 cataract 10.4
27 scotoma 10.4
28 geographic tongue 10.4 HLA-C HLA-A
29 atrophic glossitis 10.4 HLA-C HLA-A
30 idiopathic bronchiectasis 10.3 HLA-C HLA-A
31 colorectal cancer, hereditary nonpolyposis, type 8 10.3 HLA-C HLA-A
32 chronic nk-cell lymphocytosis 10.3 KIR3DL1 KIR2DL1
33 pityriasis rosea 10.3 HLA-C HLA-A
34 stevens-johnson syndrome/toxic epidermal necrolysis 10.3 HLA-C HLA-A
35 3-methylglutaconic aciduria, type iii 10.3
36 hydrops, lactic acidosis, and sideroblastic anemia 10.3
37 inflammatory spondylopathy 10.3
38 retinal disease 10.3
39 retinal degeneration 10.3
40 ocular hypertension 10.3
41 pik3ca-related overgrowth syndrome 10.3
42 guttate psoriasis 10.3 KIR2DS1 HLA-C
43 hemochromatosis, type 1 10.2
44 nonarteritic anterior ischemic optic neuropathy 10.2
45 yemenite deaf-blind hypopigmentation syndrome 10.2
46 macular degeneration, age-related, 1 10.2
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
48 lymphoma 10.2
49 sensorineural hearing loss 10.2
50 pancytopenia 10.2

Graphical network of the top 20 diseases related to Birdshot Chorioretinopathy:



Diseases related to Birdshot Chorioretinopathy

Symptoms & Phenotypes for Birdshot Chorioretinopathy

Human phenotypes related to Birdshot Chorioretinopathy:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
2 vitritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011531
3 cystoid macular edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0011505
4 ocular hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0007906
5 photoreceptor layer loss on macular oct 58 31 hallmark (90%) Very frequent (99-80%) HP:0030609
6 abnormal chorioretinal morphology 31 hallmark (90%) HP:0000532
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
9 retinal thinning 58 31 frequent (33%) Frequent (79-30%) HP:0030329
10 blurred vision 58 31 frequent (33%) Frequent (79-30%) HP:0000622
11 inflammatory abnormality of the eye 58 31 frequent (33%) Frequent (79-30%) HP:0100533
12 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
13 macular scar 58 31 frequent (33%) Frequent (79-30%) HP:0200056
14 epiretinal membrane 58 31 frequent (33%) Frequent (79-30%) HP:0100014
15 vitreous floaters 58 31 frequent (33%) Frequent (79-30%) HP:0100832
16 attenuation of retinal blood vessels 58 31 frequent (33%) Frequent (79-30%) HP:0007843
17 macular hole 58 31 frequent (33%) Frequent (79-30%) HP:0011508
18 blind-spot enlargment 58 31 frequent (33%) Frequent (79-30%) HP:0030644
19 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
20 choroidal neovascularization 58 31 occasional (7.5%) Occasional (29-5%) HP:0011506
21 arcuate scotoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030530
22 visual impairment 31 HP:0000505
23 abnormality of the retinal vasculature 58 Very frequent (99-80%)
24 abnormality of the choroid 58 Very frequent (99-80%)
25 chorioretinal abnormality 58 Very frequent (99-80%)
26 posterior uveitis 31 HP:0012123
27 retinal pigment epithelial atrophy 31 HP:0007722

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
chorioretinopathy
white painless eye
particulate debris in vitreous
depigmented lesions of the retinal pigment epithelium

Clinical features from OMIM:

605808

GenomeRNAi Phenotypes related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

26 (show top 50) (show all 71)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.58 HLA-C HLA-A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.58 KIR2DS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.58 KIR2DL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.58 HLA-C HLA-A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.58 KIR2DS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.58 HLA-C KIR2DS1 HLA-A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.58 KIR2DS1 KIR2DS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.58 KIR2DS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.58 HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.58 KIR2DS2 KIR3DS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.58 KIR2DS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.58 KIR2DL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.58 KIR2DS1 KIR2DS2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.58 KIR2DL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.58 HLA-C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.58 HLA-C
17 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.58 KIR2DS1 KIR2DL1 KIR3DS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.58 KIR2DS2 KIR2DL1 KIR2DS4 KIR3DS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.58 KIR2DL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.58 KIR2DS2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.58 KIR2DS2 KIR3DS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.58 HLA-C HLA-A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.58 KIR2DS2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.58 HLA-C HLA-A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.58 KIR2DS2 KIR2DL1 KIR3DS1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.58 KIR2DS1 KIR2DS2 KIR2DL1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.58 KIR2DS1 KIR2DS2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.58 KIR2DS1 KIR2DS2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.58 HLA-C KIR2DS1 KIR2DS2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.58 KIR2DS1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.58 KIR3DS1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.58 KIR2DS2 KIR2DS4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.58 KIR2DL1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.58 HLA-C HLA-A
35 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.58 KIR2DS1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.58 KIR2DS2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.58 KIR3DS1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.58 HLA-C
39 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.58 KIR3DS1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.58 KIR2DL1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.58 KIR2DS2 KIR2DS4 KIR3DS1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.58 HLA-C KIR2DS2 HLA-A
43 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.58 KIR2DS2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.58 KIR2DS1 KIR2DS2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.58 HLA-C HLA-A
46 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.58 KIR2DS1 KIR2DS2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.58 KIR2DL1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.58 KIR2DS4
49 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.58 HLA-C KIR2DS1 KIR2DS2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.58 KIR2DS4

Drugs & Therapeutics for Birdshot Chorioretinopathy

Drugs for Birdshot Chorioretinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
3
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
4 Antibodies, Monoclonal Phase 2
5 Antibodies Phase 2
6 Immunologic Factors Phase 2
7 Immunoglobulins Phase 2
8 Hormone Antagonists Phase 2
9 Anti-Inflammatory Agents Phase 2
10 Antineoplastic Agents, Hormonal Phase 2
11 glucocorticoids Phase 2
12 Hormones Phase 2
13 Anti-Infective Agents Phase 2
14 Antiviral Agents Phase 2
15 Interferon-alpha Phase 2
16 Interferon alpha-2 Phase 2
17 interferons Phase 2
18
Methotrexate Approved 1959-05-2, 59-05-2 126941
19
leucovorin Approved 58-05-9 6006 143
20
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
21 Vitamin B Complex
22 Folic Acid Antagonists
23 Vitamin B9
24 Dermatologic Agents
25 Folate
26 Antirheumatic Agents
27 Immunosuppressive Agents
28 Antimetabolites

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Proof-of-concept Study With a Double-masked, Dose-ranging Component to Assess the Effects of AIN457 in Patients With Noninfectious Uveitis Completed NCT00685399 Phase 2 AIN457;AIN 457;AIN457
2 Evaluation of Birdshot RETINE CHOROIDOPATHY Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2 interferon alpha 2a;prednisone
3 Clinical Study on the Regulatory T Cells in the Uveitis Patients Treated by Methotrexate Completed NCT01306474
4 Influence of Elevated Baseline Serum Creatinine and Body Composition on Acute Kidney Injury in Cardiac Surgery - The InCreAS Trial Active, not recruiting NCT02598271

Search NIH Clinical Center for Birdshot Chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

Anatomical Context for Birdshot Chorioretinopathy

MalaCards organs/tissues related to Birdshot Chorioretinopathy:

40
Eye, Retina, T Cells, Kidney, Testes, Endothelial, Bone

Publications for Birdshot Chorioretinopathy

Articles related to Birdshot Chorioretinopathy:

(show top 50) (show all 213)
# Title Authors PMID Year
1
Spontaneous retinopathy in HLA-A29 transgenic mice. 61 56
11226280 2001
2
Reproducibility of Full-field Electroretinogram Measurements in Birdshot Chorioretinopathy Patients: An Intra- and Inter-visit Analysis. 61
31902265 2020
3
INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY. 61
28816864 2020
4
Topographic correlation between multifocal electroretinography, microperimetry, and spectral-domain optical coherence tomography of the macula in patients with birdshot chorioretinopathy. 61
31884521 2019
5
High Resolution DNA Typing of Human Leukocyte Antigen A29 in Familial Birdshot Chorioretinopathy. 61
31718387 2019
6
Ocular changes in patients with psoriasis. 61
31864445 2019
7
ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY. 61
30067605 2019
8
Choroidal Structural Changes in Patients with Birdshot Chorioretinopathy. 61
31714872 2019
9
Visual acuity loss and development of ocular complications in white dot syndromes: a longitudinal analysis of 3 centers. 61
31385033 2019
10
CHOROIDAL LESIONS UNRESPONSIVE TO FLUOCINOLONE ACETONIDE INTRAVITREAL IMPLANT IN BIRDSHOT CHORIORETINOPATHY. 61
31688672 2019
11
Epidemiology of Adult Uveitis in a Northern Ireland Tertiary Referral Centre. 61
31619852 2019
12
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy. 61
30869756 2019
13
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy-Reply. 61
30869757 2019
14
The genetics, structure and function of the M1 aminopeptidase oxytocinase subfamily and their therapeutic potential in immune-mediated disease. 61
30419264 2019
15
Five-Year Trends in Multifocal Electroretinogram for Patients With Birdshot Chorioretinopathy. 61
30557530 2019
16
Endophthalmitis following cataract surgery and intracameral antibiotic: Moxifloxacin resistant Staphylococcus epidermidis. 61
30662972 2019
17
EVALUATION OF PHOTORECEPTORS, RETINAL CAPILLARY PLEXUSES, AND CHORIOCAPILLARIS IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. 61
30789462 2019
18
Unilateral Birdshot Chorioretinopathy in an Elderly Patient. 61
30709079 2019
19
Comparison of choroidal neovascularization secondary to white dot syndromes and age-related macular degeneration by using optical coherence tomography angiography. 61
30643383 2019
20
Non-Occlusive Retinal Vascular Inflammation and Role of Red Blood Cell Deformability in Birdshot Chorioretinopathy. 61
29985708 2019
21
Use of En Face Swept-Source Optical Coherence Tomography Angiography in Identifying Choroidal Flow Voids in 3 Patients With Birdshot Chorioretinopathy. 61
30128478 2018
22
Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy. 61
29769354 2018
23
TWENTY-FOUR MONTH FOLLOW-UP OF TOCILIZUMAB THERAPY FOR REFRACTORY UVEITIS-RELATED MACULAR EDEMA. 61
28520640 2018
24
Adalimumab in refractory cystoid macular edema associated with birdshot chorioretinopathy. 61
28608031 2018
25
Non-invasive method of monitoring retinal vasculitis in patients with birdshot chorioretinopathy using optical coherence tomography. 61
28844053 2018
26
Tocilizumab for the treatment of birdshot uveitis that failed interferon alpha and anti-tumor necrosis factor-alpha therapy: two cases report and literature review. 61
29397459 2018
27
RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. 61
28196058 2018
28
Dexamethasone implantation in birdshot chorioretinopathy - long-term outcome. 61
30555265 2018
29
How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins. 61
30425713 2018
30
NUT carcinoma of the sinonasal tract infiltrating the orbit in a man with birdshot chorioretinitis. 61
29755274 2018
31
Antigen-specificity of antiretinal antibodies in patients with noninfectious uveitis. 61
28985805 2017
32
Efficacy of Anti-IL6-Receptor Tocilizumab in Refractory Cystoid Macular Edema of Birdshot Retinochoroidopathy Report of Two Cases and Literature Review. 61
27726475 2017
33
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. 61
27465484 2017
34
Birdshot Chorioretinopathy. 61
29144845 2017
35
Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study. 61
28362542 2017
36
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. 61
27380253 2017
37
Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. 61
28456419 2017
38
Feasibility of swept-source OCT for active birdshot chorioretinopathy. 61
28470437 2017
39
Distinguishing White Dot Syndromes With Patterns of Choroidal Hypoperfusion on Optical Coherence Tomography Angiography. 61
28810039 2017
40
Fundus Autofluorescence Findings in Eyes With Birdshot Chorioretinitis. 61
28800648 2017
41
Birdshot Chorioretinitis and Fundus Autofluorescence: Novel Insights Into Disease Pathogenesis. 61
28800649 2017
42
IL-6 blockade in the management of non-infectious uveitis. 61
28528519 2017
43
The Value of Diagnostic Work-Up in the Evaluation of White Dot Syndromes. 61
28728181 2017
44
Analysis of autofluorescence pattern in birdshot chorioretinopathy. 61
28451757 2017
45
WALDENSTRÖM'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. 61
27124793 2017
46
In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". 61
27014945 2017
47
Electroretinogram and visual field changes in a case of birdshot chorioretinopathy. 61
28281104 2017
48
Authors reply to Letter to the Editor-In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". 61
27015040 2017
49
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. 61
27009556 2017
50
Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy. 61
27494951 2017

Variations for Birdshot Chorioretinopathy

Expression for Birdshot Chorioretinopathy

Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for Birdshot Chorioretinopathy

GO Terms for Birdshot Chorioretinopathy

Cellular components related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10 MRAP LNPEP KIR3DL1 KIR2DS2 KIR2DS1 KIR2DL1
2 plasma membrane GO:0005886 9.9 MRAP LNPEP KIR3DS1 KIR3DL1 KIR2DS4 KIR2DS2
3 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.32 HLA-C HLA-A
4 integral component of plasma membrane GO:0005887 9.23 LNPEP KIR3DS1 KIR3DL1 KIR2DS4 KIR2DS3 KIR2DL1
5 MHC class I protein complex GO:0042612 8.96 HLA-C HLA-A

Biological processes related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.63 KIR3DL1 KIR2DS2 KIR2DS1 KIR2DL1 HLA-C HLA-A
2 peptide catabolic process GO:0043171 9.5 LNPEP ERAP2 ERAP1
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.43 LNPEP HLA-C HLA-A
4 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.37 ERAP2 ERAP1
5 immune response GO:0006955 9.28 KIR3DS1 KIR3DL1 KIR2DS2 KIR2DS1 KIR2DL1 IL17A
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 HLA-C HLA-A ERAP2 ERAP1

Molecular functions related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.43 LNPEP ERAP2 ERAP1
2 peptide binding GO:0042277 9.33 LNPEP ERAP2 ERAP1
3 aminopeptidase activity GO:0004177 9.13 LNPEP ERAP2 ERAP1
4 metalloaminopeptidase activity GO:0070006 8.8 LNPEP ERAP2 ERAP1

Sources for Birdshot Chorioretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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