MCID: BRD025
MIFTS: 47

Birdshot Chorioretinopathy malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Birdshot Chorioretinopathy

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Birdshot Chorioretinopathy:

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

Characteristics:

Orphanet epidemiological data:

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


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Orphanet51 179
ICD10 via Orphanet28 H30.1
MESH via Orphanet37 C537630
UMLS via Orphanet66 C1853959
UMLS65 C1853959, C0339402

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 psoriasis and retinal vasculitis, and has symptoms including posterior uveitis, vitritis and retinal pigment epithelial atrophy. 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 brain.

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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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:

id Description Frequency HPO Source Accession
1 posterior uveitis HP:0012123
2 vitritis HP:0011531
3 retinal pigment epithelial atrophy HP:0007722
4 chorioretinal abnormality HP:0000532
5 visual impairment HP:0000505

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoneapprovedPhase 2126753-03-25865
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
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
3Immunologic FactorsPhase 218483
4interferonsPhase 21930
5HormonesPhase 211748
6Interferon-alphaPhase 21028
7Hormone AntagonistsPhase 210002
8Anti-Inflammatory AgentsPhase 28478
9Antineoplastic Agents, HormonalPhase 24256
10Antiviral AgentsPhase 28071
11glucocorticoidsPhase 23896
12Anti-Infective AgentsPhase 217220

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, Brain, B cells, Prostate, T cells, Monocytes

Animal Models for Birdshot Chorioretinopathy or affiliated genes

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MGI Mouse Phenotypes related to Birdshot Chorioretinopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Birdshot Chorioretinopathy

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Articles related to Birdshot Chorioretinopathy:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. (27009556)
2016
2
WALDENSTRA9M'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. (27124793)
2016
3
HLA-A29-POSITIVE BIRDSHOT CHORIORETINOPATHY IN AN AFRICAN AMERICAN PATIENT. (26579592)
2016
4
Choroidal degeneration in birdshot chorioretinopathy. (25811950)
2015
5
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. (25637598)
2015
6
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION. (26421963)
2015
7
Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy. (26483669)
2015
8
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. (25434765)
2015
9
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. (25906054)
2015
10
Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy. (26246903)
2015
11
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. (24576888)
2014
12
Detection of choroid- and retina-antigen reactive CD8(+) and CD4(+) T lymphocytes in the vitreous fluid of patients with birdshot chorioretinopathy. (24530754)
2014
13
Birdshot chorioretinopathy. (25211040)
2014
14
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. (24831429)
2014
15
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? (24678412)
2014
16
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. (24957906)
2014
17
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. (24114135)
2013
18
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. (23307137)
2013
19
Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. (25390538)
2013
20
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
21
Imaging in birdshot chorioretinopathy. (22954941)
2012
22
Sarcoid uveitis simulating birdshot chorioretinopathy in a child. (25390698)
2012
23
Histological findings of birdshot chorioretinopathy in an eye with ciliochoroidal melanoma. (22402699)
2012
24
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
25
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011
26
Pars plana vitrectomy for vitreo-retinal complications of birdshot chorioretinopathy. (21823933)
2011
27
Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. (18848319)
2009
28
The spectrum of fundus autofluorescence findings in birdshot chorioretinopathy. (20339461)
2009
29
Contrast sensitivity among patients with birdshot chorioretinopathy. (18973873)
2009
30
Daclizumab for treatment of birdshot chorioretinopathy. (18268208)
2008
31
Loss of visual field among patients with birdshot chorioretinopathy. (17997394)
2008
32
Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. (17949671)
2007
33
Longitudinal cohort study of patients with birdshot chorioretinopathy. IV. Visual field results at baseline. (17937923)
2007
34
Birdshot chorioretinopathy. (17065923)
2006
35
Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference. (16386995)
2006
36
Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. (16386987)
2006
37
Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy. (15923507)
2005
38
Birdshot chorioretinopathy. (16263368)
2005
39
Birdshot chorioretinopathy. (15745791)
2005
40
Electroretinographic monitoring in birdshot chorioretinopathy. (16038651)
2005
41
Long term follow-up of birdshot chorioretinopathy. (15510720)
2004
42
Birdshot chorioretinopathy: long-term manifestations and visual prognosis. (15121374)
2004
43
Differential inflammatory involvement in retina and choroA^d in birdshot chorioretinopathy. (15162278)
2004
44
Potential role of computerized visual field testing for the appraisal and follow-up of birdshot chorioretinopathy. (9790650)
1998
45
Choroidal abnormalities in birdshot chorioretinopathy: an indocyanine green angiography study. (9425423)
1997
46
HLA-A29 subtypes and birdshot chorioretinopathy. (1729172)
1992
47
Susceptibility to birdshot chorioretinopathy is restricted to the HLA-A29.2 subtype. (2077673)
1990
48
Electrophysiologic studies in birdshot chorioretinopathy. (3177561)
1988
49
Birdshot chorioretinopathy: clinical characteristics and evolution. (2460128)
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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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
1ER to Golgi transport vesicle membraneGO:001250710.2HLA-A, HLA-C
2plasma membraneGO:00058867.8ERAP2, KIR2DS1, KIR2DS2, KIR2DS4, KIR3DS1

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

idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentationGO:001988210.1HLA-A, HLA-C
2antigen processing and presentation of endogenous peptide antigen via MHC class IGO:001988510.1ERAP1, ERAP2, HLA-A
3peptide catabolic processGO:004317110.1ERAP1, ERAP2, LNPEP
4immune responseGO:00069558.2IL17A, KIR2DS1, KIR2DS2, KIR3DS1

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

idNameGO IDScoreTop Affiliating Genes
1aminopeptidase activityGO:00041779.8ERAP1, ERAP2
2transmembrane signaling receptor activityGO:00048888.7KIR2DS1, KIR2DS2

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