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Pediatric Disease Annotations & Medicines



   vogt-koyanagi-harada disease
  

Disease ID 111
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)
FAS  |  355  |  ORPHANET
PTPN22  |  26191  |  ORPHANET
IFNA2  |  3440  |  CTD_human
IL23R  |  149233  |  GWASCAT
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)
FAS  |  10q23.31
PTPN22  |  1p13.2
Disease ID 111
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
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)
C0002170  |  alopecia  |  2
C0035305  |  retinal detachment  |  2
C0024441  |  macular hole  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:21)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1176338592510838684890ADOumls:C0042170BeFreeWe 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).0.0002714422014IL23R167162145AG
rs11763385925108386400757C1orf141umls:C0042170BeFreeWe 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).0.0002714422014IL23R167162145AG
rs117633859251083863123HLA-DRB1umls:C0042170BeFreeWe 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).0.0204552862014IL23R167162145AG
rs117633859251083861959EGR2umls:C0042170BeFreeWe 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).0.0002714422014IL23R167162145AG
rs11763385925108386149233IL23Rumls:C0042170GWASCATWe 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).0.1234527992014IL23R167162145AG
rs1176338592510838622891ZNF365umls:C0042170BeFreeWe 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).0.0002714422014IL23R167162145AG
rs11763385925108386149233IL23Rumls:C0042170BeFreeWe 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).0.1234527992014IL23R167162145AG
rs23177518282809348120LINC01193umls:C0042170BeFreeIn 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.0.0002714422008CTLA42203867991AG,T
rs3021304251083861959EGR2umls:C0042170BeFreeWe 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).0.0002714422014NA632607881GC
rs302130425108386149233IL23Rumls:C0042170BeFreeWe 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).0.1234527992014NA632607881GC
rs30213042510838684890ADOumls:C0042170BeFreeWe 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).0.0002714422014NA632607881GC
rs302130425108386400757C1orf141umls:C0042170BeFreeWe 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).0.0002714422014NA632607881GC
rs3021304251083863123HLA-DRB1umls:C0042170BeFreeWe 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).0.0204552862014NA632607881GC
rs30213042510838622891ZNF365umls:C0042170BeFreeWe 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).0.0002714422014NA632607881GC
rs4423092510838684890ADOumls:C0042170BeFreeWe 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).0.0002714422014NA1062730735CT
rs442309251083861959EGR2umls:C0042170BeFreeWe 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).0.0002714422014NA1062730735CT
rs442309251083863123HLA-DRB1umls:C0042170BeFreeWe 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).0.0204552862014NA1062730735CT
rs4423092510838622891ZNF365umls:C0042170BeFreeWe 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).0.0002714422014NA1062730735CT
rs44230925108386149233IL23Rumls:C0042170BeFreeWe 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).0.1234527992014NA1062730735CT
rs44230925108386400757C1orf141umls:C0042170BeFreeWe 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).0.0002714422014NA1062730735CT
rs76378020620187112744IL17Fumls:C0042170BeFreeThe C allele and TT genotype of rs763780 in the IL-17F gene appear to be associated with protection and susceptibility to VKH syndrome.0.0005428842010IL17F;LOC105375088652236941TC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:3)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0042170atropineD00128551-55-8uveomeningoencephalitic syndromeMESH:D014607therapeutic20177954
C0042170peginterferon alfa-2bC417083-uveomeningoencephalitic syndromeMESH:D014607marker/mechanism17589934
C0042170ribavirinD01225436791-04-5uveomeningoencephalitic syndromeMESH:D014607marker/mechanism14633182
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)