eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cogan syndrome | ||||
| Disease ID | 494 |
|---|---|
| Disease | cogan syndrome |
| Definition | A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis. |
| Synonym | apraxia oculomotor cogan syndrome [disease/finding] cogan's syndrome cogan's syndrome (disorder) cogans syndrome oculomotor apraxia oculovestibuloauditory syndrome syndrome, cogan syndrome, cogan's syndrome, cogans |
| Orphanet | |
| DOID | |
| UMLS | C0271270 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:24) C0004134 | ataxia | 52 C0003509 | aortitis | 3 C0007758 | cerebellar ataxia | 3 C0016719 | friedreich's ataxia | 2 C0687120 | nephronophthisis | 1 C0039446 | telangiectasia | 1 C0022658 | nephropathy | 1 C0021390 | inflammatory bowel disease | 1 C0524851 | neurodegenerative disease | 1 C0042164 | uveitis | 1 C0010068 | coronary disease | 1 C0022573 | keratoconjunctivitis | 1 C0031069 | familial mediterranean fever | 1 C0021831 | bowel disease | 1 C0027765 | neurological disorder | 1 C0035305 | retinal detachment | 1 C0017205 | gaucher disease | 1 C0032453 | relapsing polychondritis | 1 C0042384 | vasculitis | 1 C0403416 | crescentic glomerulonephritis | 1 C0017658 | glomerulonephritis | 1 C0022658 | renal disease | 1 C0022081 | iritis | 1 C0524851 | neurodegenerative diseases | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 959 | CD40LG | 2.082 | DISEASES 1285 | COL4A3 | 2.306 | DISEASES 9244 | CRLF1 | 2.528 | DISEASES 2706 | GJB2 | 2.606 | DISEASES 3767 | KCNJ11 | 1.296 | DISEASES 27031 | NPHP3 | 3.365 | DISEASES 261734 | NPHP4 | 4.103 | DISEASES 5795 | PTPRJ | 5.309 | DISEASES 23583 | SMUG1 | 1.26 | DISEASES 7124 | TNF | 1.487 | DISEASES 7133 | TNFRSF1B | 1.72 | DISEASES 6738 | TROVE2 | 2.654 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 494 |
|---|---|
| Disease | cogan syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0008770 | decreased survivor rate | a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| 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:0007663 | Reduced visual acuity | MP:0006149 | decreased visual acuity | loss of visual acuity or ability to distinguish small details |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000407 | Sensorineural hearing 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:0007663 | Reduced visual acuity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001894 | Thrombocytosis | 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:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0005310 | Large vessel vasculitis | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| HP:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000360 | Tinnitus | 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:0100534 | Episcleritis | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001659 | Aortic regurgitation | 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:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 494 |
|---|---|
| Disease | cogan syndrome |
| Case | (Waiting for update.) |