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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   macrophage activation syndrome
  

Disease ID 1177
Disease macrophage activation syndrome
Definition
A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS.
Synonym
macrophage activation syndrome (disorder)
macrophage activation syndrome [disease/finding]
reactive hemophagocytic lymphohistiocytosis
syndrome, macrophage activation
Orphanet
UMLS
C1096155
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:32)
C0553662  |  juvenile idiopathic arthritis  |  9
C0026691  |  kawasaki disease  |  4
C0003864  |  arthritis  |  4
C0035435  |  rheumatic disease  |  2
C0040034  |  thrombocytopenia  |  2
C0409974  |  lupus erythematosus  |  2
C0085273  |  parvovirus b19 infection  |  2
C0019158  |  hepatitis  |  2
C0024141  |  systemic lupus erythematosus  |  2
C0018203  |  chronic granulomatous disease  |  2
C0023484  |  plasma cell leukemia  |  1
C0021831  |  bowel disease  |  1
C0036472  |  scrub typhus  |  1
C0002871  |  anemia  |  1
C0009782  |  connective tissue disease  |  1
C0334121  |  inflammatory myofibroblastic tumour  |  1
C0031039  |  pericardial effusion  |  1
C0021053  |  immune disorders  |  1
C0019348  |  herpes simplex  |  1
C0553662  |  juvenile rheumatoid arthritis  |  1
C0003873  |  rheumatoid arthritis  |  1
C0041471  |  typhus  |  1
C0021053  |  immune disorder  |  1
C0035435  |  rheumatic diseases  |  1
C0021053  |  immune disease  |  1
C0009782  |  connective tissue diseases  |  1
C0011633  |  dermatomyositis  |  1
C0021390  |  inflammatory bowel disease  |  1
C0023290  |  visceral leishmaniasis  |  1
C0085293  |  hepatitis e  |  1
C0040188  |  tic disorders  |  1
C0085253  |  adult-onset still's disease  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
58484  |  NLRC4  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1177
Disease macrophage activation syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:20)
HP:0005681  |  Juvenile idiopathic arthritis  |  8
HP:0002960  |  Autoimmune condition  |  2
HP:0012115  |  Liver inflammation  |  2
HP:0001873  |  Low platelet count  |  2
HP:0002725  |  Systemic lupus erythematosus  |  2
HP:0001369  |  Arthritis  |  2
HP:0045073  |  Serositis  |  1
HP:0100033  |  Tic disorder  |  1
HP:0006554  |  Acute hepatic failure  |  1
HP:0002902  |  Hyponatremia  |  1
HP:0100820  |  Glomerulopathy  |  1
HP:0002716  |  Lymph node hyperplasia  |  1
HP:0001399  |  Liver failure  |  1
HP:0003281  |  Increased ferritin  |  1
HP:0100806  |  Sepsis  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0001903  |  Anemia  |  1
HP:0200119  |  Acute liver inflammation  |  1
HP:0011900  |  Hypofibrinogenemia  |  1
HP:0001698  |  Pericardial effusions  |  1
Disease ID 1177
Disease macrophage activation syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0948441  |  vaso-occlusive disease
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894176232743775551PRF1umls:C1096155BeFreeRecurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis.0.0010857672013PRF11070598599CT
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 1177
Disease macrophage activation syndrome
Case(Waiting for update.)