MCID: BRD025
MIFTS: 41

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 retinal vasculitis and breast cancer, 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 placenta.

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, Placenta, Lung, T cells, Monocytes, Nk cells

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 81)
idTitleAuthorsYear
1
PD-1 Blockade with Pembrolizumab in Advanced Merkel-Cell Carcinoma. (27093365)
2016
2
Tongue cancer in the young. (27007019)
2016
3
Intranasal gonadotropin-releasing hormone agonist (GnRHa) for luteal-phase support following GnRHa triggering, a novel approach to avoid ovarian hyperstimulation syndrome in high responders. (27114332)
2016
4
Identification of a conserved neutralizing linear B-cell epitope in the VP1 proteins of duck hepatitis A virus type 1 and 3. (26427545)
2015
5
Dynamic recruitment of functionally distinct Swi/Snf chromatin remodeling complexes modulates Pdx1 activity in islet I^ cells. (25801033)
2015
6
From Bone Marrow Necrosis To Gaucher Disease; A Long Way To Run. (26376635)
2015
7
Increased levels of the long intergenic non-protein coding RNA POU3F3 promote DNA methylation in esophageal squamous cell carcinoma cells. (24631494)
2014
8
Presymptomatic prediction of preeclampsia with angiogenic factors, in high risk pregnant women. (23905610)
2013
9
Intralesional steroid injection to prevent stricture after near-circumferential endosopic submucosal dissection for superficial esophageal cancer. (24340258)
2013
10
Rift Valley fever among children and adolescents in southwestern Saudi Arabia. (23668469)
2013
11
Uterine incision for anterior placenta previa without placenta accreta. (21994120)
2012
12
Casein kinase 1I+ regulates an MDMX intramolecular interaction to stimulate p53 binding. (23028042)
2012
13
EBV-induced erythema multiforme: a case report. (21458140)
2011
14
Outside the box: extra-pericardial tamponade due to acute recurrence of hiatus hernia. (20417806)
2010
15
Coherence motion perception in developmental dyslexia: a meta-analysis of behavioral studies. (20957687)
2010
16
Is cognitive functioning associated with subjective quality of life in young adults with spina bifida and hydrocephalus? (20111845)
2010
17
Postprandial endothelial dysfunction in subjects with new-onset type 2 diabetes: an acarbose and nateglinide comparative study. (20334663)
2010
18
Conservative therapy for Complex Regional Pain Syndrome Type I in a paediatric patient: a case study. (19506699)
2009
19
Facing the challenge of managing linitis plastica--review of the literature. (20214236)
2009
20
Serotonin transporter gene status and electroconvulsive therapy outcomes: a retrospective analysis of 83 patients. (19192461)
2009
21
Serum glycated albumin: Potential use as an index of glycemic control in diabetic dogs. (19051050)
2009
22
Case of yellow fever vaccine--associated viscerotropic disease with prolonged viremia, robust adaptive immune responses, and polymorphisms in CCR5 and RANTES genes. (18598196)
2008
23
Four prognostic indices in advanced prostate cancer patients, under palliative androgen deprivation treatment. (18392222)
2008
24
Genetic and immunologic heterogeneity among persons who control HIV infection in the absence of therapy. (18275276)
2008
25
IFN-y enhances T(H)1 polarisation of monocyte-derived dendritic cells matured with clinical-grade cytokines using serum-free conditions. (18630500)
2008
26
Weakness and numbness after chemotherapy for metastatic non-seminoma testis: a new neurological complication. (18607855)
2008
27
Cyclooxygenase isozymes in oral squamous cell carcinoma:a real-time RT-PCR study with clinic pathological correlations. (17624243)
2007
28
Cochlear implantation and far-advanced otosclerosis. (17245066)
2007
29
Characterization of the adaptor protein ARH expression in the brain and ARH molecular interactions. (17727637)
2007
30
Detection of expression of p53, p16, and cyclooxygenase 2 in pancreatic cancer by tissue microarray and correlation among these three genes]. (16759529)
2006
31
CYP2C9 haplotype structure in European American warfarin patients and association with clinical outcomes. (15900281)
2005
32
Primary cardiac lymphoma presenting clinically as restrictive cardiomyopathy. (15671623)
2005
33
Regulation of the p300 HAT domain via a novel activation loop. (15004546)
2004
34
The Heart Protection Study: expanding the boundaries for high-risk coronary disease prevention. (12867249)
2003
35
Hydrogen/deuterium exchange mass spectrometry of actin in various biochemical contexts. (14623181)
2003
36
Association of CYP2E1 of PON2311 polymorphisms in neonates with preterm]. (12561466)
2002
37
The signal transduction pathway causing the synergistic hypertrophic effects of neuropeptide Y and norepinephrine on primary cardiomyocyte. (12030804)
2001
38
Treatment of tuberculous peritonitis. (11405183)
2000
39
Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. (11027496)
2000
40
Crystal structure of the complex between VEGF and a receptor-blocking peptide. (9922142)
1998
41
ATP-dependent regulation of a G protein-coupled K+ channel (GIRK1/GIRK4) expressed in oocytes. (9038938)
1997
42
Defibrinogenating enzymes. (9360849)
1997
43
Inhibition of interleukin-2-stimulated enhancement of human natural killer (NK) cell activity by carbaryl, an anticholinesterase insecticide. (1488778)
1992
44
Actinic cheilitis granulomatosa. (1479115)
1992
45
Effect of antiplatelet and anticoagulant therapy on patency of femorotibial bypass grafts. (2229166)
1990
46
Protracted hypervitaminosis A--method of treatment? (6823076)
1983
47
Chronic hypervitaminosis A with intracranial hypertension and low cerebrospinal fluid concentration of protein. Two illustrative cases. (4263318)
1972
48
Localized juvenile periodontosis. (5340769)
1967
49
Farmer's lung. (5624392)
1967
50
Another method of treatment of vaginal discharge using cenasert tablets. (13180563)
1954

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