eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| reactive arthritis | ||||
| Disease ID | 383 |
|---|---|
| Disease | reactive arthritis |
| Definition | An aseptic, inflammatory arthritis developing secondary to a primary extra-articular infection, most typically of the GASTROINTESTINAL TRACT or UROGENITAL SYSTEM. The initiating trigger pathogens are usually SHIGELLA; SALMONELLA; YERSINIA; CAMPYLOBACTER; or CHLAMYDIA TRACHOMATIS. Reactive arthritis is strongly associated with HLA-B27 ANTIGEN. |
| Synonym | arthritides, post-infectious arthritides, postinfectious arthritides, reactive arthritis occurring after infection arthritis post infect arthritis postinfect arthritis, post infectious arthritis, post-infectious arthritis, postinfectious arthritis, reactive arthritis, reactive [disease/finding] post infect arthritis post infectious arthritis post-bacterial arthropathy post-bacterial arthropathy (disorder) post-infectious arthritides post-infectious arthritis post-infective arthritis post-infective arthritis (disorder) post-infective arthropathy postinfect arthritis postinfectious arthritides postinfectious arthritis reactive arthritides reactive arthritis (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0085435 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:28) C0021831 | bowel disease | 9 C0021390 | inflammatory bowel disease | 9 C0008148 | chlamydia | 4 C0041296 | tuberculosis | 3 C0003873 | rheumatoid arthritis | 2 C0003864 | arthritis | 2 C0035436 | rheumatic fever | 1 C0036689 | streptococcal pharyngitis | 1 C0035435 | rheumatic disease | 1 C0033860 | psoriasis | 1 C0042769 | virus infection | 1 C0086227 | enterobius vermicularis infection | 1 C0022568 | keratitis | 1 C0024286 | lymphogranuloma venereum | 1 C0021400 | influenza | 1 C0042164 | uveitis | 1 C0026934 | mycoplasma | 1 C0033246 | proctitis | 1 C0009763 | conjunctivitis | 1 C0021390 | inflammatory bowel diseases | 1 C0035435 | rheumatic diseases | 1 C0600327 | toxic shock syndrome | 1 C0004623 | bacterial infection | 1 C0003504 | aortic insufficiency | 1 C0178238 | intestinal infection | 1 C0004623 | bacterial infections | 1 C0010692 | cystitis | 1 C0022408 | arthropathy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:48) 2 | A2M | 1.182 | DISEASES 176 | ACAN | 1.389 | DISEASES 340351 | AGBL3 | 1.303 | DISEASES 55750 | AGK | 1.287 | DISEASES 8943 | AP3D1 | 2.264 | DISEASES 567 | B2M | 2.253 | DISEASES 959 | CD40LG | 3.926 | DISEASES 922 | CD5L | 1.052 | DISEASES 1260 | CNGA2 | 2.055 | DISEASES 8804 | CREG1 | 4.724 | DISEASES 1850 | DUSP8 | 1.153 | DISEASES 6993 | DYNLT1 | 2.595 | DISEASES 64167 | ERAP2 | 1.189 | DISEASES 22909 | FAN1 | 2.322 | DISEASES 51218 | GLRX5 | 1.413 | DISEASES 3105 | HLA-A | 2.752 | DISEASES 3106 | HLA-B | 3.358 | DISEASES 3107 | HLA-C | 1.413 | DISEASES 3305 | HSPA1L | 2.111 | DISEASES 3329 | HSPD1 | 3.532 | DISEASES 3586 | IL10 | 2.653 | DISEASES 3605 | IL17A | 1.958 | DISEASES 149233 | IL23R | 1.356 | DISEASES 10379 | IRF9 | 1.967 | DISEASES 3684 | ITGAM | 1.164 | DISEASES 3822 | KLRC2 | 1.003 | DISEASES 50488 | MINK1 | 1.971 | DISEASES 4312 | MMP1 | 1.198 | DISEASES 26151 | NAT9 | 2.17 | DISEASES 4700 | NDUFA6 | 1.855 | DISEASES 4939 | OAS2 | 1.276 | DISEASES 11331 | PHB2 | 8.168 | DISEASES 5455 | POU3F3 | 1.056 | DISEASES 5923 | RASGRF1 | 1.26 | DISEASES 7905 | REEP5 | 1.369 | DISEASES 9349 | RPL23 | 1.88 | DISEASES 6218 | RPS17 | 1.353 | DISEASES 6283 | S100A12 | 1.216 | DISEASES 5265 | SERPINA1 | 1.49 | DISEASES 653509 | SFTPA1 | 2.845 | DISEASES 729238 | SFTPA2 | 2.638 | DISEASES 6520 | SLC3A2 | 1.185 | DISEASES 8801 | SUCLG2 | 1.619 | DISEASES 80312 | TET1 | 1.126 | DISEASES 7099 | TLR4 | 1.518 | DISEASES 7124 | TNF | 3.387 | DISEASES 7133 | TNFRSF1B | 2.811 | DISEASES 7321 | UBE2D1 | 3.395 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 383 |
|---|---|
| Disease | reactive arthritis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0100543 | Cognitive impairment HP:0002027 | Abdominal pain HP:0001824 | Weight loss HP:0002037 | Inflammation of the large intestine HP:0001659 | Aortic regurgitation HP:0000010 | Recurrent urinary tract infections HP:0002829 | Arthralgia HP:0002014 | Diarrhea HP:0002206 | Pulmonary fibrosis HP:0100686 | Enthesitis HP:0000962 | Hyperkeratosis HP:0002754 | Osteomyelitis HP:0002093 | Respiratory insufficiency HP:0001386 | Joint swelling HP:0001945 | Fever HP:0002103 | Abnormality of the pleura HP:0001701 | Pericarditis HP:0008391 | Dystrophic fingernails HP:0001597 | Abnormality of the nail HP:0011107 | Recurrent aphthous stomatitis HP:0001369 | Arthritis HP:0001387 | Joint stiffness HP:0000613 | Photophobia HP:0000509 | Conjunctivitis HP:0200039 | Pustule HP:0100773 | Cartilage destruction |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0001370 | Rheumatoid arthritis | 2 HP:0001369 | Arthritis | 2 HP:0000554 | Uveitis | 1 HP:0003040 | Arthropathy | 1 HP:0001659 | Aortic insufficiency | 1 HP:0000509 | Conjunctivitis | 1 HP:0003765 | Psoriasis | 1 HP:0000491 | Corneal inflammation | 1 HP:0000622 | Blurred vision | 1 HP:0000010 | Frequent urinary tract infections | 1 HP:0001945 | Fever | 1 |
| Disease ID | 383 |
|---|---|
| Disease | reactive arthritis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:17) C2707258 | infections C2364133 | infection C1963079 | restrictive cardiomyopathy C0519935 | chlamydia trachomatis C0518948 | chlamydia trachomatis infection C0403762 | circinate balanitis C0343386 | clostridium difficile infection C0302359 | shigella flexneri C0043407 | yersinia infections C0043407 | yersinia infection C0039103 | synovitis C0017661 | iga nephropathy C0008149 | chlamydial infection C0008149 | chlamydia infection C0008149 | chlamydia C0004623 | bacterial infections C0003864 | joint inflammation |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0008148 | chlamydia | 5 C0008151 | chlamydia trachomatis | 4 C0009450 | infection | 3 C0021311 | infections | 2 C0004623 | bacterial infections | 1 C0518948 | chlamydia trachomatis infection | 1 |
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 |
| rs4986790 | 16567359 | 7099 | TLR4 | umls:C0085435 | BeFree | Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA. | 0.00554839 | 2006 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 16567359 | 7099 | TLR4 | umls:C0085435 | BeFree | Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA. | 0.00554839 | 2006 | TLR4 | 9 | 117713324 | 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0002037 | Inflammation of the large intestine | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| HP:0002103 | Abnormality of the pleura | MP:0008151 | increased diameter of long bones | increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:26) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002103 | Abnormality of the pleura | 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:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002037 | Inflammation of the large intestine | MP:0013803 | increased IgG2 level | greater than normal immunoglobulin class G2 level |
| HP:0100773 | Cartilage destruction | 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:0001701 | Pericarditis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0100686 | Enthesitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200039 | Pustule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0011107 | Recurrent aphthous stomatitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008391 | Dystrophic fingernails | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| Disease ID | 383 |
|---|---|
| Disease | reactive arthritis |
| Case | (Waiting for update.) |