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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   angioimmunoblastic t-cell lymphoma
  

Disease ID 485
Disease angioimmunoblastic t-cell lymphoma
Definition
A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly.
Synonym
[m] angioimmunoblastic lymphadenopathy
[m]angioimmunoblastic lymphadenopathy
aild
ailt
angioblastic lymphadenopathy
angioimmunoblastic lymphadenopathies
angioimmunoblastic lymphadenopathy
angioimmunoblastic lymphadenopathy (morphologic abnormality)
angioimmunoblastic lymphadenopathy type t-cell lymphoma
angioimmunoblastic lymphadenopathy with dysproteinaemia
angioimmunoblastic lymphadenopathy with dysproteinemia
angioimmunoblastic lymphadenopathy with dysproteinemia (aild)
angioimmunoblastic lymphadenopathy with dysproteinemia (disorder)
angioimmunoblastic lymphoma
angioimmunoblastic t-cell lymphoma (disorder)
angioimmunoblastic t-cell lymphoma (morphologic abnormality)
immunoblastic lymphadenopathies
immunoblastic lymphadenopathy
immunoblastic lymphadenopathy [disease/finding]
lymphadenopathies, angioimmunoblastic
lymphadenopathies, immunoblastic
lymphadenopathy, angioimmunoblastic
lymphadenopathy, angioimmunoblastic, with dysproteinemia
lymphadenopathy, immunoblastic
peripheral t-cell lymphoma, aild (angioimmunoblastic lymphadenopathy with dysproteinaemia)
peripheral t-cell lymphoma, aild (angioimmunoblastic lymphadenopathy with dysproteinemia)
Orphanet
ICD10
UMLS
C0020981
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:29)
C0024299  |  lymphoma  |  4
C0079731  |  b-cell lymphoma  |  3
C0024291  |  hemophagocytic lymphohistiocytosis  |  2
C0079744  |  diffuse large b-cell lymphoma  |  2
C0024299  |  lymphomas  |  2
C0079731  |  b-cell lymphomas  |  2
C0030807  |  pemphigus  |  1
C0409974  |  lupus erythematosus  |  1
C0151436  |  leukocytoclastic vasculitis  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0031036  |  polyarteritis nodosa  |  1
C1522378  |  large granular lymphocytosis  |  1
C0023484  |  plasma cell leukemia  |  1
C0023418  |  leukemia  |  1
C0272286  |  immune thrombocytopenia  |  1
C0085278  |  antiphospholipid syndrome  |  1
C0002871  |  anemia  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0034902  |  pure red cell aplasia  |  1
C0079731  |  b cell lymphoma  |  1
C0002880  |  autoimmune hemolytic anemia  |  1
C0242584  |  autoimmune thrombocytopenia  |  1
C0272126  |  evans syndrome  |  1
C0002878  |  hemolytic anemia  |  1
C0040034  |  thrombocytopenia  |  1
C0281963  |  red cell aplasia  |  1
C0035078  |  renal failure  |  1
C0026764  |  plasma cell myeloma  |  1
C0032285  |  pneumonia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:4)
3418  |  IDH2  |  CTD_human
1788  |  DNMT3A  |  CTD_human
54790  |  TET2  |  CTD_human
387  |  RHOA  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 485
Disease angioimmunoblastic t-cell lymphoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:18)
HP:0002716  |  Lymph node hyperplasia  |  4
HP:0012191  |  B-cell lymphoma  |  4
HP:0002665  |  Lymphoma  |  4
HP:0002664  |  Neoplasia  |  2
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0001973  |  Autoimmune thrombocytopenia  |  1
HP:0001909  |  Leukemia  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0001903  |  Anemia  |  1
HP:0001873  |  Low platelet count  |  1
HP:0002958  |  Immune dysregulation  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0012410  |  Pure red cell aplasia  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0001880  |  Eosinophilia  |  1
HP:0030150  |  Plasmacytosis  |  1
HP:0001890  |  Autoimmune hemolytic anemia  |  1
HP:0002090  |  Pneumonia  |  1
Disease ID 485
Disease angioimmunoblastic t-cell lymphoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C1962974  |  chylothorax
C0079731  |  b-cell lymphomas
C0037285  |  skin manifestations
C0034902  |  pure red cell aplasia
C0022660  |  acute renal failure
C0014118  |  endocarditis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0079731  |  b-cell lymphomas  |  2
C0034902  |  pure red cell aplasia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:3)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs11348802224689848387RHOAumls:C0020981BeFreeThey include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.0.1213572092014BRAF7140753336AT,G,C
rs37189676024689848387RHOAumls:C0020981BeFreeThey include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.0.1213572092014ACAA1;MYD88338138714GT
rs38790727224689848387RHOAumls:C0020981BeFreeThey include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.0.1213572092014MYD88338141150TC
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 485
Disease angioimmunoblastic t-cell lymphoma
Case(Waiting for update.)