MCID: BRD025
MIFTS: 38

Birdshot Chorioretinopathy malady

Rare diseases, Eye diseases categories

Aliases & Classifications for Birdshot Chorioretinopathy

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 45 51 65
Birdshot Chorioretinitis 51 65
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 45
Birdshot Retinochoroidopathy 51
 
Birdshot Retinochoroiditis 51
Vitiliginous Choroiditis 51
Bscr 45


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
birdshot chorioretinopathy:
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy


External Ids:

Orphanet51 179
ICD10 via Orphanet28 H30.1
MESH via Orphanet37 C537630
UMLS via Orphanet66 C1853959

Summaries for Birdshot Chorioretinopathy

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NIH Rare Diseases:45 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. last updated: 3/21/2013

MalaCards based summary: Birdshot Chorioretinopathy, also known as birdshot chorioretinitis, is related to choroiditis and retinitis, and has symptoms including autosomal dominant inheritance, visual impairment and chorioretinal abnormality. An important gene associated with Birdshot Chorioretinopathy is HLA-A (Major Histocompatibility Complex, Class I, A), and among its related pathways are Immune response IFN alpha/beta signaling pathway and Antigen Presentation- Folding, assembly and peptide loading of class I MHC. Affiliated tissues include eye, retina and testes.

Wikipedia:68 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Related Diseases for Birdshot Chorioretinopathy

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1choroiditis10.6
2retinitis10.5
3posterior scleritis10.5
4retinal vasculitis10.5
5scleritis10.5
6uveitis10.4
7intraocular lymphoma10.3
8vasculitis10.3
9chorioretinitis10.2
10colitis10.2
11melanoma10.2
12muscular dystrophy10.2
13psoriasis10.2
14panuveitis10.2
15retinal disease10.2
16anterior uveitis10.2
17bladder papillary clear cell adenocarcinoma10.2HLA-A, HLA-C
18childhood cerebellar astrocytic neoplasm10.2HLA-A, HLA-C
19acneiform dermatitis10.2HLA-A, HLA-C
20acute gonococcal salpingitis10.2HLA-A, HLA-C
21human herpesvirus 810.2HLA-A, HLA-C
22rectosigmoid cancer10.2HLA-A, HLA-C
23papillary adenocarcinoma10.2HLA-A, IL17A
24lactocele10.2HLA-A, HLA-C
25pulmonary nodular lymphoid hyperplasia10.2HLA-A, HLA-C
26glycogen storage disease iiia10.2HLA-A, HLA-C
27bladder urachal urothelial carcinoma10.1HLA-A, HLA-C
28limited scleroderma10.1HLA-A, IL17A
29atypical lipomatous tumor10.1HLA-A, HLA-C
30succinate-coa ligase deficiency10.1HLA-A, HLA-C
31childhood pleomorphic rhabdomyosarcoma10.1HLA-A, HLA-C
32spotted fever10.0HLA-A, HLA-C, IL17A
33gynandroblastoma10.0HLA-C, KIR2DS1
34orbital osteomyelitis10.0HLA-A, HLA-C
35hemolytic anemia9.9HLA-A, HLA-C, KIR2DL1, KIR3DL1
36ichthyosis - hypotrichosis - sclerosing cholangitis9.9HLA-A, HLA-C
37hiv-19.9HLA-A, HLA-C, KIR3DL1, KIR3DS1
38spondyloarthropathy9.8ERAP1, ERAP2, HLA-A, HLA-C
39bestrophinopathy9.8HLA-A, HLA-C, IL17A, KIR2DL1, KIR3DL1
40bk-virus nephropathy8.2ERAP1, ERAP2, HLA-A, HLA-C, IL17A, KIR2DL1

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



Diseases related to birdshot chorioretinopathy

Symptoms for Birdshot Chorioretinopathy

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HPO human phenotypes related to Birdshot Chorioretinopathy:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 visual impairment HP:0000505
3 chorioretinal abnormality HP:0000532
4 retinal pigment epithelial atrophy HP:0007722
5 vitreitis HP:0011531
6 posterior uveitis HP:0012123

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoneapprovedPhase 2120853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
2Interferon-alphaPhase 21005

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of Birdshot Retine Choroidopathy Treatment by Either Steroid or Interferon alpha2aCompletedNCT00508040Phase 2
2Safety and Efficacy of AIN457 in Noninfectious UveitisCompletedNCT00685399Phase 2

Search NIH Clinical Center for Birdshot Chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

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Anatomical Context for Birdshot Chorioretinopathy

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MalaCards organs/tissues related to Birdshot Chorioretinopathy:

33
Eye, Retina, Testes

Animal Models for Birdshot Chorioretinopathy or affiliated genes

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Publications for Birdshot Chorioretinopathy

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Articles related to Birdshot Chorioretinopathy:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Choroidal degeneration in birdshot chorioretinopathy. (25811950)
2015
2
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. (25637598)
2015
3
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION. (26421963)
2015
4
Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy. (26483669)
2015
5
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. (25434765)
2015
6
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. (25906054)
2015
7
Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy. (26246903)
2015
8
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. (24576888)
2014
9
Detection of choroid- and retina-antigen reactive CD8(+) and CD4(+) T lymphocytes in the vitreous fluid of patients with birdshot chorioretinopathy. (24530754)
2014
10
Birdshot chorioretinopathy. (25211040)
2014
11
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. (24831429)
2014
12
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? (24678412)
2014
13
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. (24957906)
2014
14
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. (24114135)
2013
15
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. (23307137)
2013
16
Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. (25390538)
2013
17
Interleukin-17 production and T helper 17 cells in peripheral blood mononuclear cells in response to ocular lysate in patients with birdshot chorioretinopathy. (24379648)
2013
18
Imaging in birdshot chorioretinopathy. (22954941)
2012
19
Sarcoid uveitis simulating birdshot chorioretinopathy in a child. (25390698)
2012
20
Histological findings of birdshot chorioretinopathy in an eye with ciliochoroidal melanoma. (22402699)
2012
21
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
22
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011
23
Pars plana vitrectomy for vitreo-retinal complications of birdshot chorioretinopathy. (21823933)
2011
24
Restoration of retinal architecture following systemic immunosuppression in birdshot chorioretinopathy. (20735296)
2010
25
Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. (18848319)
2009
26
The spectrum of fundus autofluorescence findings in birdshot chorioretinopathy. (20339461)
2009
27
Contrast sensitivity among patients with birdshot chorioretinopathy. (18973873)
2009
28
Daclizumab for treatment of birdshot chorioretinopathy. (18268208)
2008
29
Loss of visual field among patients with birdshot chorioretinopathy. (17997394)
2008
30
Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. (17949671)
2007
31
Longitudinal cohort study of patients with birdshot chorioretinopathy. IV. Visual field results at baseline. (17937923)
2007
32
Birdshot chorioretinopathy. (17065923)
2006
33
Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference. (16386995)
2006
34
Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. (16386987)
2006
35
Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy. (15923507)
2005
36
Birdshot chorioretinopathy. (16263368)
2005
37
Birdshot chorioretinopathy. (15745791)
2005
38
Electroretinographic monitoring in birdshot chorioretinopathy. (16038651)
2005
39
Long term follow-up of birdshot chorioretinopathy. (15510720)
2004
40
Birdshot chorioretinopathy: long-term manifestations and visual prognosis. (15121374)
2004
41
Differential inflammatory involvement in retina and choroA^d in birdshot chorioretinopathy. (15162278)
2004
42
Potential role of computerized visual field testing for the appraisal and follow-up of birdshot chorioretinopathy. (9790650)
1998
43
Choroidal abnormalities in birdshot chorioretinopathy: an indocyanine green angiography study. (9425423)
1997
44
Psoriasis and birdshot chorioretinopathy: response to aromatic retinoids. (8358104)
1993
45
HLA-A29 subtypes and birdshot chorioretinopathy. (1729172)
1992
46
Susceptibility to birdshot chorioretinopathy is restricted to the HLA-A29.2 subtype. (2077673)
1990
47
Electrophysiologic studies in birdshot chorioretinopathy. (3177561)
1988
48
Birdshot chorioretinopathy: clinical characteristics and evolution. (2460128)
1988
49
HLA typing in birdshot chorioretinopathy. (3341436)
1988
50
Birdshot chorioretinopathy: an etiological problem. (7343040)
1981

Variations for Birdshot Chorioretinopathy

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Expression for genes affiliated with Birdshot Chorioretinopathy

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Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for genes affiliated with Birdshot Chorioretinopathy

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Pathways related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4HLA-A, HLA-C, IL17A
28.8ERAP1, ERAP2, HLA-A, HLA-C
3
Show member pathways
8.6ERAP1, ERAP2, HLA-A, HLA-C, LNPEP
47.2HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR2DS4
5
Show member pathways
6.8HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR2DS3
6
Show member pathways
6.5HLA-A, HLA-C, IL17A, KIR2DL1, KIR2DS1, KIR2DS2
7
Show member pathways
5.7ERAP1, ERAP2, HLA-A, HLA-C, KIR2DL1, KIR2DS1

GO Terms for genes affiliated with Birdshot Chorioretinopathy

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

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:004261210.5HLA-A, HLA-C
2integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.3HLA-A, HLA-C
3ER to Golgi transport vesicle membraneGO:001250710.3HLA-A, HLA-C
4integral component of plasma membraneGO:00058877.7HLA-A, HLA-C, KIR2DL1, KIR2DS3, KIR2DS4, KIR3DL1
5plasma membraneGO:00058866.6HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR2DS4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:000248610.4HLA-A, HLA-C
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.1HLA-A, HLA-C, LNPEP
3antigen processing and presentation of endogenous peptide antigen via MHC class IGO:00198859.9ERAP1, ERAP2, HLA-A
4antigen processing and presentation of exogenous peptide antigen via MHC class IGO:00425909.8HLA-A, HLA-C, LNPEP
5peptide catabolic processGO:00431719.8ERAP1, ERAP2, LNPEP
6regulation of blood pressureGO:00082179.6ERAP1, ERAP2, LNPEP
7antigen processing and presentation of peptide antigen via MHC class IGO:00024748.9ERAP1, ERAP2, HLA-A, HLA-C, LNPEP
8innate immune responseGO:00450877.8HLA-C, KIR2DS1, KIR2DS2, KIR2DS4, KIR3DS1
9regulation of immune responseGO:00507767.7HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR3DL1
10immune responseGO:00069557.6HLA-A, HLA-C, IL17A, KIR2DL1, KIR2DS1, KIR2DS2

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

idNameGO IDScoreTop Affiliating Genes
1TAP bindingGO:004697710.2HLA-A, HLA-C
2aminopeptidase activityGO:00041779.5ERAP1, ERAP2, LNPEP
3peptide antigen bindingGO:00426059.5HLA-A, HLA-C
4metalloaminopeptidase activityGO:00700069.5ERAP1, ERAP2, LNPEP
5metallopeptidase activityGO:00082379.3ERAP1, ERAP2, LNPEP
6peptide bindingGO:00422779.2ERAP1, ERAP2, LNPEP

Sources for Birdshot Chorioretinopathy

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