eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| coats disease | ||||
| Disease ID | 142 |
|---|---|
| Disease | coats disease |
| Definition | A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels. |
| Synonym | coat disease coat syndrome coat's disease coat's syndrome coats syndrome coats' disease coats' disease (disorder) coats' disease [ambiguous] coats' syndrome coats's disease disease, coats exudative retinopathy exudative retinopathy (disorder) leber's miliary aneurysms miliary aneurysms of retina retinal telangiectases retinal telangiectasis retinal telangiectasis [disease/finding] telangiectases, retinal telangiectasis, retinal |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0154832 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0035305 | retinal detachment | 7 C0271051 | macular edema | 4 C0026850 | muscular dystrophy | 1 C0035305 | retinal detachments | 1 C0015625 | fanconi anemia | 1 C0029124 | optic atrophy | 1 C0024441 | macular hole | 1 C0456909 | vision loss | 1 C0035304 | retinal degeneration | 1 C0035309 | retinopathy | 1 C0042373 | vascular disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 94 | ACVRL1 | 1.617 | DISEASES 83605 | CCM2 | 2.342 | DISEASES 1028 | CDKN1C | 1.609 | DISEASES 23418 | CRB1 | 3.7 | DISEASES 9946 | CRYZL1 | 3.185 | DISEASES 1736 | DKC1 | 2.276 | DISEASES 2303 | FOXC2 | 2.252 | DISEASES 8322 | FZD4 | 4.356 | DISEASES 11146 | GLMN | 3.279 | DISEASES 3039 | HBA1 | 1.341 | DISEASES 8517 | IKBKG | 1.707 | DISEASES 889 | KRIT1 | 2.195 | DISEASES 4693 | NDP | 5.245 | DISEASES 4855 | NOTCH4 | 1.289 | DISEASES 5080 | PAX6 | 1.403 | DISEASES 11235 | PDCD10 | 2.565 | DISEASES 6247 | RS1 | 2.429 | DISEASES 4089 | SMAD4 | 1.047 | DISEASES 54345 | SOX18 | 2.974 | DISEASES 8831 | SYNGAP1 | 2.741 | DISEASES 7010 | TEK | 1.388 | DISEASES 7422 | VEGFA | 3.454 | DISEASES 161882 | ZFPM1 | 1.011 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NDP | Xp11.3 |
| Disease ID | 142 |
|---|---|
| Disease | coats disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0008053 | Aplasia/Hypoplasia of the iris | 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: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:0001103 | Abnormality of the macula | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0000593 | Abnormality of the anterior chamber | MP:0010709 | absent anterior chamber | absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0008053 | Aplasia/Hypoplasia of the iris | 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: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:0000541 | Retinal detachment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000486 | Strabismus | 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:0001103 | Abnormality of the macula | 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:0000593 | Abnormality of the anterior chamber | 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:0000501 | Glaucoma | 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 |
| Disease ID | 142 |
|---|---|
| Disease | coats disease |
| Case | (Waiting for update.) |