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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   acute graft versus host disease
  

Disease ID 1741
Disease acute graft versus host disease
Definition
A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.
Synonym
ac graft-versus-host dis
acute graft-versus-host disease
acute graft-versus-host disease (disorder)
acute gvh disease
acute gvhd
fulminant graft versus host disease
graft versus host disease, acute
gvhd, acute
Orphanet
ICD10
UMLS
C0856825
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:19)
C0011991  |  diarrhoea  |  3
C0011991  |  diarrhea  |  2
C0026986  |  myelodysplastic syndromes  |  1
C0015625  |  fanconi anemia  |  1
C0042769  |  viral infection  |  1
C0085669  |  acute leukemia  |  1
C0023418  |  leukemias  |  1
C0085669  |  acute leukemias  |  1
C0155765  |  microangiopathy  |  1
C0020443  |  hypercholesterolemia  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0016436  |  folliculitis  |  1
C0042769  |  viral infections  |  1
C0032285  |  pneumonia  |  1
C0002438  |  amoebiasis  |  1
C0023418  |  leukemia  |  1
C0013370  |  intestinal amoebiasis  |  1
C0013182  |  drug hypersensitivity  |  1
C0376545  |  hematologic malignancies  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:19)
3565  |  IL4  |  CIPHER
3106  |  HLA-B  |  CIPHER
3107  |  HLA-C  |  CIPHER
3586  |  IL10  |  CIPHER
3802  |  KIR2DL1  |  CIPHER
3803  |  KIR2DL2  |  CIPHER
3804  |  KIR2DL3  |  CIPHER
3805  |  KIR2DL4  |  CIPHER
57292  |  KIR2DL5A  |  CIPHER
554300  |  KIR2DP1  |  CIPHER
3806  |  KIR2DS1  |  CIPHER
3808  |  KIR2DS3  |  CIPHER
3809  |  KIR2DS4  |  CIPHER
3810  |  KIR2DS5  |  CIPHER
3811  |  KIR3DL1  |  CIPHER
115653  |  KIR3DL3  |  CIPHER
548594  |  KIR3DP1  |  CIPHER
3813  |  KIR3DS1  |  CIPHER
7124  |  TNF  |  CIPHER
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1741
Disease acute graft versus host disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:12)
HP:0002664  |  Neoplasia  |  2
HP:0002014  |  Diarrhea  |  2
HP:0003124  |  Elevated serum cholesterol  |  1
HP:0002488  |  Acute leukemias  |  1
HP:0001909  |  Leukemia  |  1
HP:0001880  |  Eosinophilia  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0001824  |  Weight loss  |  1
HP:0007468  |  Perifollicular hyperkeratosis  |  1
HP:0002090  |  Pneumonia  |  1
HP:0007502  |  Hyperkeratosis follicularis  |  1
HP:0002013  |  Emesis  |  1
Disease ID 1741
Disease acute graft versus host disease
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0015230  |  rash  |  1
C0011991  |  diarrhea  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:18)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs10737416227030247099TLR4umls:C0856825BeFreeThe results showed that the genetic markers rs4833079 (P = 0.035) in TLR1, rs4837656 (P = 0.032) and rs17582214 (P = 0.029) in TLR4, rs10737416 (P = 0.048) in TLR5, rs6531656 (P = 0.035) in TLR6, and rs337629 (P = 0.005) in TLR10 were associated with the occurrence of acute GvHD.0.0008143262012LOC1053731091224887055CA
rs1120902618209723149233IL23Rumls:C0856825BeFreeAmong recipients of hematopoietic cells from HLA-identical donors, the IL-23R (Arg381Gln) gene variant on the donor side has a protective effect on the occurrence of acute GVHD in recipients after transplantation.0.0008143262008IL23R167240275GA
rs17582214227030247099TLR4umls:C0856825BeFreeThe results showed that the genetic markers rs4833079 (P = 0.035) in TLR1, rs4837656 (P = 0.032) and rs17582214 (P = 0.029) in TLR4, rs10737416 (P = 0.048) in TLR5, rs6531656 (P = 0.035) in TLR6, and rs337629 (P = 0.005) in TLR10 were associated with the occurrence of acute GvHD.0.0008143262012NA9119676531AT
rs1800795222825003569IL6umls:C0856825BeFreeSimilar to previous publications, the IL6 donor genotype for rs1800795 was associated with a 20%-50% increased risk for grade IIb-IV aGVHD after unrelated HCT in the allelic (adjusted P = .011) and recessive (adjusted P = .0013) models.0.0024429772012IL6;LOC541472722727026CG
rs291016425205119406938MIR146Aumls:C0856825BeFreeIn humans, the minor genotype of the single nucleotide polymorphism rs2910164 in HCT donors, which reduces expression of miR-146a, was associated with severe acute GVHD (grade III/IV).0.0002714422014LOC285628;MIR146A5160485411CG
rs337629227030247099TLR4umls:C0856825BeFreeThe results showed that the genetic markers rs4833079 (P = 0.035) in TLR1, rs4837656 (P = 0.032) and rs17582214 (P = 0.029) in TLR4, rs10737416 (P = 0.048) in TLR5, rs6531656 (P = 0.035) in TLR6, and rs337629 (P = 0.005) in TLR10 were associated with the occurrence of acute GvHD.0.0008143262012KLF3-AS1438633737AG
rs3521392412121354106TLR9umls:C0856825BeFreeWe found that two tagSNPs in the TLR9 gene in the donor side, +1174 A/G (rs352139) and +1635 C/T (rs352140), influenced the risk of acute GVHD (aGVHD) and CMV reactivation.0.0005428842013TLR9352224356TC
rs3521402412121354106TLR9umls:C0856825BeFreeWe found that two tagSNPs in the TLR9 gene in the donor side, +1174 A/G (rs352139) and +1635 C/T (rs352140), influenced the risk of acute GVHD (aGVHD) and CMV reactivation.0.0005428842013TLR9352222681CA,T
rs43642542007515910855HPSEumls:C0856825BeFreeThe present study indicates a highly significant correlation of HPSE gene SNPs rs4693608 and rs4364254 and their combination with the risk of developing acute GVHD.0.0002714422010HPSE;LOC105377313483302560CT
rs4553808240572391493CTLA4umls:C0856825BeFreeFinally, finding of significant associations between CD28 +17 C/T and CTLA4 -1661 A/G genotypes with CMV active infection in allogeneic HSCT patients experienced aGVHD emphasize on the importance of the genetic pattern of costimulatory genes in outcomes of active CMV infection in HSCT patients needs completed studies.0.0019000932013CTLA42203866282AG
rs46936082007515910855HPSEumls:C0856825BeFreeThe present study indicates a highly significant correlation of HPSE gene SNPs rs4693608 and rs4364254 and their combination with the risk of developing acute GVHD.0.0002714422010HPSE483320204GA
rs4833079227030247099TLR4umls:C0856825BeFreeThe results showed that the genetic markers rs4833079 (P = 0.035) in TLR1, rs4837656 (P = 0.032) and rs17582214 (P = 0.029) in TLR4, rs10737416 (P = 0.048) in TLR5, rs6531656 (P = 0.035) in TLR6, and rs337629 (P = 0.005) in TLR10 were associated with the occurrence of acute GvHD.0.0008143262012KLF3-AS1438653060TC
rs4837656227030247099TLR4umls:C0856825BeFreeThe results showed that the genetic markers rs4833079 (P = 0.035) in TLR1, rs4837656 (P = 0.032) and rs17582214 (P = 0.029) in TLR4, rs10737416 (P = 0.048) in TLR5, rs6531656 (P = 0.035) in TLR6, and rs337629 (P = 0.005) in TLR10 were associated with the occurrence of acute GvHD.0.0008143262012NA9119671775TC
rs49867911643696964127NOD2umls:C0856825BeFreeMutations in innate immune system NOD2/CARD 15 and TLR-4 (Thr399Ile) genes influence the risk for severe acute graft-versus-host disease in patients who underwent an allogeneic transplantation.0.0019000932006TLR49117713324CT
rs4986791164369697099TLR4umls:C0856825BeFreeMutations in innate immune system NOD2/CARD 15 and TLR-4 (Thr399Ile) genes influence the risk for severe acute graft-versus-host disease in patients who underwent an allogeneic transplantation.0.0008143262006TLR49117713324CT
rs6531656227030247099TLR4umls:C0856825BeFreeThe results showed that the genetic markers rs4833079 (P = 0.035) in TLR1, rs4837656 (P = 0.032) and rs17582214 (P = 0.029) in TLR4, rs10737416 (P = 0.048) in TLR5, rs6531656 (P = 0.035) in TLR6, and rs337629 (P = 0.005) in TLR10 were associated with the occurrence of acute GvHD.0.0008143262012KLF3438682580CT
rs6844176205744545981RFC1umls:C0856825BeFreeIn multivariate analysis, one SNP (rs6844176) in RFC1 (replication factor C (activator 1)) gene was independently associated with a higher risk of grade II-IV acute GVHD (relative risk (RR): 1.39, 95% confidence interval (CI): 1.14-1.70, P=0.001), and showed a trend toward higher risk of grade III-IV acute GVHD (RR: 1.33, 95% CI: 0.95-1.85, P=0.09).0.0002714422010RFC1439364970TC
rs9277534262676213115HLA-DPB1umls:C0856825BeFreeAmong recipients of transplants from donors with rs9277534A-linked HLA-DPB1, the risk of acute GVHD was higher for recipients with rs9277534G-linked HLA-DPB1 mismatches than for recipients with rs9277534A-linked HLA-DPB1 mismatches (hazard ratio, 1.54; 95% confidence interval [CI], 1.25 to 1.89; P<0.001), as was the risk of death due to causes other than disease recurrence (hazard ratio, 1.25; 95% CI, 1.00 to 1.57; P=0.05).0.0029858612015HLA-DPB1633087030AG
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.)
Disease ID 1741
Disease acute graft versus host disease
Case(Waiting for update.)