eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| birdshot chorioretinopathy | ||||
| Disease ID | 1170 |
|---|---|
| Disease | birdshot chorioretinopathy |
| Definition | Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes severe, progressive inflammation of both the choroid and retina. - Wikipedia Reference: https://en.wikipedia.org/wiki/birdshot chorioretinopathy |
| Synonym | bscr |
| Orphanet | |
| OMIM | |
| UMLS | C1853959 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) HLA-A | 6p22.1 |
| Disease ID | 1170 |
|---|---|
| Disease | birdshot chorioretinopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:27) HP:0000518 | Cataract HP:0008046 | Abnormality of the retinal vasculature HP:0000541 | Retinal detachment HP:0000543 | Optic disc pallor HP:0000572 | Visual loss HP:0007843 | Attenuation of retinal blood vessels HP:0000622 | Blurred vision HP:0030530 | Arcuate scotoma HP:0011531 | Hyalitis HP:0007906 | Increased intraocular pressure HP:0100533 | Inflammatory abnormality of the eye HP:0000532 | Chorioretinal abnormality HP:0100832 | Vitreous floaters HP:0007722 | Retinal pigment epithelial atrophy HP:0030644 | Blind-spot enlargment HP:0030329 | Retinal thinning HP:0000505 | Poor vision HP:0200056 | Macular scarring HP:0011531 | Vitritis HP:0011505 | Cystoid macular edema HP:0012123 | Posterior uveitis HP:0000610 | Abnormality of the choroid HP:0011506 | Choroidal neovascularization of the macula HP:0000613 | Photophobia HP:0030609 | Photoreceptor layer loss on macular OCT HP:0100014 | Epiretinal membrane HP:0011508 | Macular hole |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0000554 | Uveitis | 2 HP:0008970 | Scapulohumeral muscular dystrophy | 1 HP:0000512 | ERG abnormal | 1 HP:0011505 | Cystoid macular edema | 1 HP:0040049 | Macular edema | 1 HP:0003560 | Muscular dystrophy | 1 HP:0000969 | Dropsy | 1 |
| Disease ID | 1170 |
|---|---|
| Disease | birdshot chorioretinopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0008521 | choroidal disease |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs150571175 | 24957906 | 9895 | TECPR2 | umls:C1853959 | GWASCAT | A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. | 0.12 | 2015 | TECPR2 | 14 | 102379530 | G | A |
| rs7705093 | 24957906 | 4012 | LNPEP | umls:C1853959 | GWASCAT | A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. | 0.12 | 2015 | LNPEP | 5 | 96954943 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100533 | Inflammatory abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0008046 | Abnormality of the retinal vasculature | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0007906 | Increased intraocular pressure | MP:0005257 | abnormal intraocular pressure | anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye |
| HP:0011505 | Cystoid macular edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0000541 | Retinal detachment | MP:0003099 | retinal detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| HP:0007722 | Retinal pigment epithelial atrophy | MP:0005548 | retinal pigment epithelium atrophy | acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, i |
| HP:0007843 | Attenuation of retinal blood vessels | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000543 | Optic disc pallor | MP:0008259 | abnormal optic disc morphology | any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve |
| HP:0000622 | Blurred vision | MP:0002090 | abnormal vision | inability or decreased ability to see |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000622 | Blurred vision | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0030329 | Retinal thinning | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0011505 | Cystoid macular edema | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000532 | Chorioretinal abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008046 | Abnormality of the retinal vasculature | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000610 | Abnormality of the choroid | MP:0002988 | decreased urine osmolality | reduction in the amount of ions in the urine compared to the normal state |
| HP:0200056 | Macular scarring | MP:0013123 | head/neck swellings | appearance of abnormal enlargements of all descriptions (hard, soft, different shapes etc) under the skin in the head/neck region |
| HP:0012123 | Posterior uveitis | MP:0008079 | decreased CD8-positive, alpha-beta T cell number | reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| HP:0000543 | Optic disc pallor | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000541 | Retinal detachment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100014 | Epiretinal membrane | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0007722 | Retinal pigment epithelial atrophy | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007906 | Increased intraocular pressure | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0100533 | Inflammatory abnormality of the eye | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011506 | Choroidal neovascularization of the macula | MP:0010464 | abnormal aortic arch and aortic arch branch attachment | any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian ar |
| HP:0011531 | Vitritis | MP:0008079 | decreased CD8-positive, alpha-beta T cell number | reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| HP:0007843 | Attenuation of retinal blood vessels | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| Disease ID | 1170 |
|---|---|
| Disease | birdshot chorioretinopathy |
| Case | (Waiting for update.) |