vogt-koyanagi-harada disease |
Disease ID | 111 |
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Disease | vogt-koyanagi-harada disease |
Definition | A syndrome characterized by bilateral granulomatous UVEITIS with IRITIS and secondary GLAUCOMA, premature ALOPECIA, symmetrical VITILIGO, poliosis circumscripta (a strand of depigmented hair), HEARING DISORDERS, and meningeal signs (neck stiffness and headache). Examination of the cerebrospinal fluid reveals a pattern consistent with MENINGITIS, ASEPTIC. (Adams et al., Principles of Neurology, 6th ed, p748; Surv Ophthalmol 1995 Jan;39(4):265-292) |
Synonym | disease haradas disease, vogt-koyanagi-harada harada disease harada's disease harada's disease (disorder) harada's syndrome syndrome, uveomeningoencephalitic syndrome, vkh syndrome, vkh (vogt koyanagi harada) syndrome, vogt koyanagi harada syndrome, vogt-koyanagi-harada uveo-oto-cutaneous syndrome uveomeningoenceph uveomeningoenceph syndrome uveomeningoencephalitic syndrome uveomeningoencephalitic syndrome [disease/finding] uveomeningoencephalitides uveomeningoencephalitis vkh (vogt koyanagi harada) syndrome vkh - vogt-koyanagi-harada syndrome vkh syndrome vkh syndrome (vogt koyanagi harada) vogt koyanagi harada dis vogt koyanagi harada disease vogt koyanagi harada syndrome vogt's disease vogt-koyanagi syndrome vogt-koyanagi syndrome (disorder) vogt-koyanagi-harada disease (disorder) vogt-koyanagi-harada syndrome |
Orphanet | |
DOID | |
UMLS | C0042170 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0035305 | retinal detachment | 2 C0002170 | alopecia | 2 C0042164 | uveitis | 2 C0024441 | macular hole | 1 C0025289 | meningitis | 1 C0032460 | polycystic ovary | 1 C0018784 | sensorineural hearing loss | 1 C0037274 | dermatosis | 1 C0033860 | psoriasis | 1 C0155357 | posterior scleritis | 1 C0456909 | vision loss | 1 C0032460 | polycystic ovary syndrome | 1 C0026975 | myelitis | 1 C0086543 | cataract | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:31) 6347 | CCL2 | infer 1493 | CTLA4 | infer 115352 | FCRL3 | infer 3105 | HLA-A | infer 3106 | HLA-B | infer 3107 | HLA-C | infer 3122 | HLA-DRA | infer 3123 | HLA-DRB1 | infer 3458 | IFNG | infer 149233 | IL23R | infer 3802 | KIR2DL1 | infer 3803 | KIR2DL2 | infer 3804 | KIR2DL3 | infer 3805 | KIR2DL4 | infer 57292 | KIR2DL5A | infer 554300 | KIR2DP1 | infer 3806 | KIR2DS1 | infer 100132285 | KIR2DS2 | infer 3808 | KIR2DS3 | infer 3809 | KIR2DS4 | infer 3810 | KIR2DS5 | infer 3811 | KIR3DL1 | infer 3812 | KIR3DL2 | infer 115653 | KIR3DL3 | infer 548594 | KIR3DP1 | infer 3813 | KIR3DS1 | infer 5133 | PDCD1 | infer 26191 | PTPN22 | infer 387082 | SUMO4 | infer 3117 | HLA-DQA1 | infer 3119 | HLA-DQB1 | infer |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:98) 920 | CD4 | DISEASES 30009 | TBX21 | DISEASES 7049 | TGFBR3 | DISEASES 4282 | MIF | DISEASES 8797 | TNFRSF10A | DISEASES 5949 | RBP3 | DISEASES 6347 | CCL2 | DISEASES 3558 | IL2 | DISEASES 3312 | HSPA8 | DISEASES 3458 | IFNG | DISEASES 3111 | HLA-DOA | DISEASES 3565 | IL4 | DISEASES 7128 | TNFAIP3 | DISEASES 1959 | EGR2 | DISEASES 6431 | SRSF6 | DISEASES 60468 | BACH2 | DISEASES 80210 | ARMC9 | DISEASES 3569 | IL6 | DISEASES 27348 | TOR1B | DISEASES 7097 | TLR2 | DISEASES 7188 | TRAF5 | DISEASES 7299 | TYR | DISEASES 27178 | IL37 | DISEASES 3553 | IL1B | DISEASES 55717 | WDR11 | DISEASES 941 | CD80 | DISEASES 59067 | IL21 | DISEASES 84162 | KIAA1109 | DISEASES 3394 | IRF8 | DISEASES 4715 | NDUFB9 | DISEASES 23118 | TAB2 | DISEASES 56896 | DPYSL5 | DISEASES 7098 | TLR3 | DISEASES 122769 | LRR1 | DISEASES 3688 | ITGB1 | DISEASES 80709 | AKNA | DISEASES 1493 | CTLA4 | DISEASES 56246 | MRAP | DISEASES 81793 | TLR10 | DISEASES 84868 | HAVCR2 | DISEASES 55075 | UACA | DISEASES 3936 | LCP1 | DISEASES 79966 | SCD5 | DISEASES 10318 | TNIP1 | DISEASES 4684 | NCAM1 | DISEASES 1351 | COX8A | DISEASES 149233 | IL23R | DISEASES 6097 | RORC | DISEASES 10215 | OLIG2 | DISEASES 942 | CD86 | DISEASES 5133 | PDCD1 | DISEASES 1908 | EDN3 | DISEASES 112744 | IL17F | DISEASES 3824 | KLRD1 | DISEASES 3117 | HLA-DQA1 | DISEASES 1447 | CSN2 | DISEASES 3605 | IL17A | DISEASES 6775 | STAT4 | DISEASES 26191 | PTPN22 | DISEASES 3123 | HLA-DRB1 | DISEASES 4283 | CXCL9 | DISEASES 7096 | TLR1 | DISEASES 11116 | FGFR1OP | DISEASES 722 | C4BPA | DISEASES 356 | FASLG | DISEASES 10758 | TRAF3IP2 | DISEASES 4942 | OAT | DISEASES 959 | CD40LG | DISEASES 400757 | C1orf141 | DISEASES 958 | CD40 | DISEASES 55315 | SLC29A3 | DISEASES 84890 | ADO | DISEASES 3118 | HLA-DQA2 | DISEASES 3127 | HLA-DRB5 | DISEASES 50943 | FOXP3 | DISEASES 3107 | HLA-C | DISEASES 3105 | HLA-A | DISEASES 2625 | GATA3 | DISEASES 3440 | IFNA2 | DISEASES 11168 | PSIP1 | DISEASES 10333 | TLR6 | DISEASES 143 | PARP4 | DISEASES 7306 | TYRP1 | DISEASES 3426 | CFI | DISEASES 3119 | HLA-DQB1 | DISEASES 6295 | SAG | DISEASES 9873 | FCHSD2 | DISEASES 22891 | ZNF365 | DISEASES 23274 | CLEC16A | DISEASES 3120 | HLA-DQB2 | DISEASES 7124 | TNF | DISEASES 3106 | HLA-B | DISEASES 6490 | PMEL | DISEASES 3115 | HLA-DPB1 | DISEASES 3586 | IL10 | DISEASES 629 | CFB | DISEASES 3620 | IDO1 | DISEASES 22861 | NLRP1 | DISEASES |
Locus | Symbol | Locus(Total Locus:2) |
Disease ID | 111 |
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Disease | vogt-koyanagi-harada disease |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0000407 | Sensorineural hearing impairment HP:0000505 | Visual impairment HP:0001045 | Vitiligo HP:0000534 | Abnormality of the eyebrow HP:0000499 | Abnormality of the eyelashes HP:0002216 | Premature graying of hair HP:0002290 | Poliosis HP:0001053 | Hypopigmented skin patches HP:0004322 | Short stature HP:0000501 | Glaucoma HP:0000541 | Retinal detachment HP:0100543 | Cognitive impairment HP:0000518 | Cataract HP:0002209 | Sparse scalp hair |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0000554 | Uveitis | 2 HP:0001596 | Hair loss | 2 HP:0000541 | Detached retina | 2 HP:0012231 | Exudative retinal detachment | 1 HP:0003765 | Psoriasis | 1 HP:0000518 | Cataract | 1 HP:0000969 | Dropsy | 1 HP:0001287 | Meningitis | 1 HP:0000572 | Visual loss | 1 HP:0012486 | Inflammation of spinal cord | 1 HP:0011508 | Macular hole | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0000147 | Sclerocystic ovaries | 1 |
Disease ID | 111 |
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Disease | vogt-koyanagi-harada disease |
Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C1963229 | retinal detachment C0751711 | anterior ischemic optic neuropathy C0521683 | chorioretinal atrophy C0344296 | annular choroidal detachment C0271650 | glucose intolerance C0154946 | acute angle-closure glaucoma C0042900 | vitiligo C0041834 | erythema C0035305 | retinal detachments C0024441 | macular hole C0022890 | inner ear disease C0002170 | alopecia |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:21) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs117633859 | 25108386 | 84890 | ADO | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | IL23R | 1 | 67162145 | A | G |
rs117633859 | 25108386 | 400757 | C1orf141 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | IL23R | 1 | 67162145 | A | G |
rs117633859 | 25108386 | 3123 | HLA-DRB1 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.020455286 | 2014 | IL23R | 1 | 67162145 | A | G |
rs117633859 | 25108386 | 1959 | EGR2 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | IL23R | 1 | 67162145 | A | G |
rs117633859 | 25108386 | 149233 | IL23R | umls:C0042170 | GWASCAT | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.123452799 | 2014 | IL23R | 1 | 67162145 | A | G |
rs117633859 | 25108386 | 22891 | ZNF365 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | IL23R | 1 | 67162145 | A | G |
rs117633859 | 25108386 | 149233 | IL23R | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.123452799 | 2014 | IL23R | 1 | 67162145 | A | G |
rs231775 | 18282809 | 348120 | LINC01193 | umls:C0042170 | BeFree | In this study, we investigated the association of CTLA-4 gene polymorphisms (- 1661A/G; - 318C/T; + 49G/A, and CT60) with Vogt-Koyanagi-Harada (VKH) syndrome in Chinese Han patients and normal controls. | 0.000271442 | 2008 | CTLA4 | 2 | 203867991 | A | G,T |
rs3021304 | 25108386 | 1959 | EGR2 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 6 | 32607881 | G | C |
rs3021304 | 25108386 | 149233 | IL23R | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.123452799 | 2014 | NA | 6 | 32607881 | G | C |
rs3021304 | 25108386 | 84890 | ADO | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 6 | 32607881 | G | C |
rs3021304 | 25108386 | 400757 | C1orf141 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 6 | 32607881 | G | C |
rs3021304 | 25108386 | 3123 | HLA-DRB1 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.020455286 | 2014 | NA | 6 | 32607881 | G | C |
rs3021304 | 25108386 | 22891 | ZNF365 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 6 | 32607881 | G | C |
rs442309 | 25108386 | 84890 | ADO | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 10 | 62730735 | C | T |
rs442309 | 25108386 | 1959 | EGR2 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 10 | 62730735 | C | T |
rs442309 | 25108386 | 3123 | HLA-DRB1 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.020455286 | 2014 | NA | 10 | 62730735 | C | T |
rs442309 | 25108386 | 22891 | ZNF365 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 10 | 62730735 | C | T |
rs442309 | 25108386 | 149233 | IL23R | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.123452799 | 2014 | NA | 10 | 62730735 | C | T |
rs442309 | 25108386 | 400757 | C1orf141 | umls:C0042170 | BeFree | We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). | 0.000271442 | 2014 | NA | 10 | 62730735 | C | T |
rs763780 | 20620187 | 112744 | IL17F | umls:C0042170 | BeFree | The C allele and TT genotype of rs763780 in the IL-17F gene appear to be associated with protection and susceptibility to VKH syndrome. | 0.000542884 | 2010 | IL17F;LOC105375088 | 6 | 52236941 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:3) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0042170 | atropine | D001285 | 51-55-8 | uveomeningoencephalitic syndrome | MESH:D014607 | therapeutic | 20177954 | ||
C0042170 | peginterferon alfa-2b | C417083 | - | uveomeningoencephalitic syndrome | MESH:D014607 | marker/mechanism | 17589934 | ||
C0042170 | ribavirin | D012254 | 36791-04-5 | uveomeningoencephalitic syndrome | MESH:D014607 | marker/mechanism | 14633182 |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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