BSCR
MCID: BRD025
MIFTS: 31

Birdshot Chorioretinopathy (BSCR) malady

Eye diseases category

Summaries for Birdshot Chorioretinopathy

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Birdshot Chorioretinopathy, also known as chorioretinopathy, birdshot type, is related to psoriasis and choroiditis. An important gene associated with Birdshot Chorioretinopathy is HLA-A (major histocompatibility complex, class I, A), and among its related pathways are COPII (Coat Protein 2) Mediated Vesicle Transport and Endosomal/Vacuolar pathway. Affiliated tissues include eye and retina.

Wikipedia:63 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Description from OMIM:46 605808

Aliases & Classifications for Birdshot Chorioretinopathy

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
chorioretinopathy, birdshot type:
Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

birdshot chorioretinopathy 42 60
chorioretinopathy, birdshot type 48 46
multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk 42
choroidal and/or chorioretinal disorder 60
bscr 42


External Ids:

OMIM46 605808
MESH via Orphanet35 C537630
ICD10 via Orphanet26 H30.1
UMLS via Orphanet61 C1853959

Related Diseases for Birdshot Chorioretinopathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Birdshot Chorioretinopathy:



Diseases related to birdshot chorioretinopathy

Clinical Features for Birdshot Chorioretinopathy

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Sources:
46OMIM
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Clinical features from OMIM:

605808

Clinical synopsis from OMIM:

605808

Drugs & Therapeutics for Birdshot Chorioretinopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Birdshot Chorioretinopathy

Search CenterWatch for Birdshot Chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

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Anatomical Context for Birdshot Chorioretinopathy

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Sources:
32MalaCards
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MalaCards organs/tissues related to Birdshot Chorioretinopathy:

32
Eye, Retina

Animal Models for Birdshot Chorioretinopathy or affiliated genes

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Publications for Birdshot Chorioretinopathy

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Genetic Variations for Birdshot Chorioretinopathy

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Expression for genes affiliated with Birdshot Chorioretinopathy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Birdshot Chorioretinopathy

Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for genes affiliated with Birdshot Chorioretinopathy

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Sources:
53Reactome, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Birdshot Chorioretinopathy

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GO Terms for genes affiliated with Birdshot Chorioretinopathy

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Sources:
16Gene Ontology
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Cellular components related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:0426129.6HLA-A, HLA-C
2phagocytic vesicle membraneGO:0306709.6HLA-A, HLA-C
3integral to lumenal side of endoplasmic reticulum membraneGO:0715569.5HLA-C, HLA-A
4ER to Golgi transport vesicle membraneGO:0125079.3HLA-A, HLA-C
5integral to plasma membraneGO:0058877.6KIR2DS4, HLA-C, HLA-A, KIR2DL1, KIR2DS3, KIR3DS1
6plasma membraneGO:0058866.5HLA-C, HLA-A, KIR2DL1, KIR2DS2, KIR3DS1, KIR2DS1

Biological processes related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of T cell mediated cytotoxicityGO:0019169.6HLA-A, HLA-C
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:0024809.3HLA-A, HLA-C
3innate immune responseGO:0450877.5HLA-C, KIR2DS2, KIR3DS1, KIR2DS1, KIR2DS4
4regulation of immune responseGO:0507767.4KIR3DL1, KIR2DS1, KIR2DS2, KIR2DL1, HLA-A, HLA-C
5immune responseGO:0069557.0HLA-C, HLA-A, KIR2DL1, KIR2DS2, KIR3DS1, KIR2DS1

Molecular functions related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:0426059.6HLA-A, HLA-C

Products for genes affiliated with Birdshot Chorioretinopathy

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  • Antibodies
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Sources for Birdshot Chorioretinopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet