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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   henoch-sch?nlein purpura
  

Disease ID 1444
Disease henoch-sch?nlein purpura
Definition
A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections.
Synonym
acute vascular purpura
allergic purpura
allergic purpura (disorder)
allergic purpura nos
allergic purpura nos (disorder)
anaphylactoid purpura
autoimmune purpura
autoimmune purpura (disorder)
autoimmune purpura (disorder) [ambiguous]
henoch purpura
henoch schoenlein purpura
henoch scholein purpura
henoch schonlein
henoch schonlein purpura
henoch schonlein purpuras
henoch schonlein syndrome
henoch shonlein purpura
henoch's purpura
henoch-sch?nlein purpura (disorder)
henoch-sch@nlein purpura
henoch-schoenlein purpura
henoch-schoenlein purpura (hsp)
henoch-schoenlein vasculitis
henoch-scholein purpura
henoch-schonlein
henoch-schonlein all. purpura
henoch-schonlein purpura
henoch-schonlein purpura (disorder)
henoch-schonlein purpuras
henoch-schönlein purpura
henoch-schönlein purpura (disorder)
hsp - henoch-schonlein purpura
purpura allergic
purpura, allergic
purpura, anaphylactoid
purpura, autoimmune
purpura, henoch
purpura, henoch schonlein
purpura, henoch-schoenlein
purpura, henoch-schonlein
purpura, schoenlein henoch
purpura, schoenlein-henoch
purpura, schoenlein-henoch [disease/finding]
purpura, schonlein henoch
purpura, schonlein-henoch
purpura: [allergic] or [henoch-schonlein allergy]
purpura: [allergic] or [henoch-schonlein allergy] (disorder)
purpuras, henoch schonlein
purpuras, henoch-schonlein
purpuras, schonlein-henoch
schoenlein henoch purpura
schoenlein-henoch purpura
schonlein purpura, henoch
schonlein purpuras, henoch
schonlein-henoch purpura
schonlein-henoch purpuras
spring fever
Orphanet
DOID
ICD10
UMLS
C0034152
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:65)
C0042384  |  vasculitis  |  7
C0027697  |  nephritis  |  5
C0021933  |  intussusception  |  4
C0026934  |  mycoplasma  |  3
C0032285  |  pneumoniae  |  3
C0032302  |  mycoplasma pneumonia  |  3
C0085278  |  antiphospholipid syndrome  |  2
C0033687  |  proteinuria  |  2
C0151436  |  leukocytoclastic vasculitis  |  2
C0034150  |  purpura  |  2
C0003864  |  arthritis  |  2
C0040053  |  thrombosis  |  2
C0001339  |  acute pancreatitis  |  2
C0030305  |  pancreatitis  |  2
C0017658  |  glomerulonephritis  |  2
C0003873  |  rheumatoid arthritis  |  2
C0009324  |  ulcerative colitis  |  2
C0017178  |  gastrointestinal disorders  |  1
C0023890  |  liver cirrhosis  |  1
C0017178  |  gastrointestinal disorder  |  1
C0270612  |  leukoencephalopathy  |  1
C0271051  |  macular oedema  |  1
C0037199  |  sinusitis  |  1
C0041349  |  tubulointerstitial nephritis  |  1
C0003615  |  appendicitis  |  1
C0024440  |  cystoid macular oedema  |  1
C0014118  |  endocarditis  |  1
C0008325  |  cholecystitis  |  1
C0009319  |  colitis  |  1
C0031069  |  familial mediterranean fever  |  1
C0024110  |  lung abscess  |  1
C0013370  |  intestinal amebiasis  |  1
C0014534  |  epididymitis  |  1
C0042769  |  viral infection  |  1
C0038013  |  ankylosing spondylitis  |  1
C0242379  |  lung cancer  |  1
C0155773  |  portal vein thrombosis  |  1
C0042164  |  uveitis  |  1
C0020538  |  hypertension  |  1
C0018378  |  guillain-barre syndrome  |  1
C0021845  |  intestinal perforation  |  1
C0034152  |  henoch schonlein purpura  |  1
C0002438  |  amebiasis  |  1
C0456909  |  blindness  |  1
C0031154  |  peritonitis  |  1
C0155320  |  cortical blindness  |  1
C0027707  |  interstitial nephritis  |  1
C0007570  |  celiac disease  |  1
C0042769  |  virus infection  |  1
C0027726  |  nephrotic syndrome  |  1
C0033680  |  protein-losing enteropathy  |  1
C0026691  |  kawasaki disease  |  1
C0021831  |  enteropathy  |  1
C0149925  |  small cell lung cancer  |  1
C0267841  |  acalculous cholecystitis  |  1
C0001418  |  adenocarcinoma  |  1
C0019158  |  hepatitis  |  1
C0042165  |  anterior uveitis  |  1
C0022658  |  renal disease  |  1
C0152013  |  lung adenocarcinoma  |  1
C0015530  |  factor xiii deficiency  |  1
C0003460  |  anuria  |  1
C0442874  |  neuropathy  |  1
C0010072  |  coronary thrombosis  |  1
C0376545  |  hematological malignancies  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
718  |  C3  |  CTD_human
5328  |  PLAU  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:9)
3117  |  HLA-DQA1  |  CIPHER
4846  |  NOS3  |  CIPHER
7827  |  NPHS2  |  CIPHER
720  |  C4A  |  CIPHER
7356  |  SCGB1A1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
26191  |  PTPN22  |  CIPHER
718  |  C3  |  CTD_human
5328  |  PLAU  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:47)
56  |  ACRV1  |  1.214  |  DISEASES
183  |  AGT  |  1.546  |  DISEASES
545  |  ATR  |  1.891  |  DISEASES
567  |  B2M  |  1.101  |  DISEASES
720  |  C4A  |  2.824  |  DISEASES
721  |  C4B  |  2.326  |  DISEASES
728  |  C5AR1  |  1.575  |  DISEASES
959  |  CD40LG  |  3.999  |  DISEASES
1471  |  CST3  |  1.559  |  DISEASES
1589  |  CYP21A2  |  1.097  |  DISEASES
5169  |  ENPP3  |  1.447  |  DISEASES
83715  |  ESPN  |  1.623  |  DISEASES
355  |  FAS  |  1.062  |  DISEASES
2204  |  FCAR  |  1.304  |  DISEASES
2224  |  FDPS  |  1.477  |  DISEASES
389549  |  FEZF1  |  1.286  |  DISEASES
26762  |  HAVCR1  |  1.286  |  DISEASES
3106  |  HLA-B  |  1.756  |  DISEASES
3123  |  HLA-DRB1  |  2.616  |  DISEASES
3320  |  HSP90AA1  |  4.447  |  DISEASES
3586  |  IL10  |  1.442  |  DISEASES
3605  |  IL17A  |  2.248  |  DISEASES
29949  |  IL19  |  1.949  |  DISEASES
3572  |  IL6ST  |  1.18  |  DISEASES
64423  |  INF2  |  1.438  |  DISEASES
3920  |  LAMP2  |  1.353  |  DISEASES
4153  |  MBL2  |  1.308  |  DISEASES
4192  |  MDK  |  1.936  |  DISEASES
4318  |  MMP9  |  1.222  |  DISEASES
114548  |  NLRP3  |  1.077  |  DISEASES
5076  |  PAX2  |  1.261  |  DISEASES
5277  |  PIGA  |  2.285  |  DISEASES
23556  |  PIGN  |  2.738  |  DISEASES
5420  |  PODXL  |  2.177  |  DISEASES
26191  |  PTPN22  |  1.014  |  DISEASES
7732  |  RNF112  |  1.134  |  DISEASES
6401  |  SELE  |  2.407  |  DISEASES
5265  |  SERPINA1  |  1.534  |  DISEASES
169981  |  SPIN3  |  3.259  |  DISEASES
129685  |  TAF8  |  1.695  |  DISEASES
80222  |  TARS2  |  1.844  |  DISEASES
123283  |  TARSL2  |  1.88  |  DISEASES
7056  |  THBD  |  1.451  |  DISEASES
7099  |  TLR4  |  1.665  |  DISEASES
7124  |  TNF  |  2.232  |  DISEASES
7133  |  TNFRSF1B  |  1.639  |  DISEASES
7148  |  TNXB  |  1.146  |  DISEASES
Locus(Waiting for update.)
Disease ID 1444
Disease henoch-sch?nlein purpura
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:52)
HP:0002633  |  Vasculitis  |  7
HP:0000123  |  Nephritis  |  5
HP:0002027  |  Abdominal pain  |  4
HP:0001369  |  Arthritis  |  3
HP:0012531  |  Pain  |  3
HP:0002576  |  Intussusception  |  3
HP:0002584  |  Intestinal hemorrhage  |  3
HP:0001298  |  Encephalopathy  |  3
HP:0000979  |  Purpura  |  2
HP:0100279  |  Ulcerative colitis  |  2
HP:0003613  |  Antiphospholipid antibodies  |  2
HP:0100584  |  Endocarditis  |  2
HP:0001733  |  Pancreatic inflammation  |  2
HP:0000093  |  Proteinuria  |  2
HP:0001945  |  Fever  |  2
HP:0001370  |  Rheumatoid arthritis  |  2
HP:0000099  |  Glomerular nephritis  |  2
HP:0001735  |  Acute pancreatitis  |  2
HP:0002586  |  Peritonitis  |  1
HP:0012122  |  Anterior uveitis  |  1
HP:0001970  |  Interstitial nephritis  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0005202  |  Helicobacter pylori infection  |  1
HP:0100519  |  Anuria  |  1
HP:0003326  |  Muscle pain  |  1
HP:0011128  |  Acute esophageal necrosis  |  1
HP:0000822  |  Hypertension  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0005318  |  Cerebral vasculitis  |  1
HP:0002664  |  Neoplasia  |  1
HP:0012596  |  Moderate proteinuria  |  1
HP:0000790  |  Hematuria  |  1
HP:0012735  |  Coughing  |  1
HP:0000100  |  Nephrosis  |  1
HP:0000246  |  Sinus inflammation  |  1
HP:0030357  |  Small cell lung carcinoma  |  1
HP:0000031  |  Epididymitis  |  1
HP:0100704  |  Cortical visual impairment  |  1
HP:0002242  |  Enteropathy  |  1
HP:0000554  |  Uveitis  |  1
HP:0030078  |  Lung adenocarcinoma  |  1
HP:0002243  |  Protein-losing enteropathy  |  1
HP:0000969  |  Dropsy  |  1
HP:0000618  |  Blindness  |  1
HP:0006689  |  Bacterial endocarditis  |  1
HP:0002583  |  Colitis  |  1
HP:0002608  |  Celiac disease  |  1
HP:0002239  |  Gastrointestinal hemorrhage  |  1
HP:0002720  |  Decreased immunoglobulin A  |  1
HP:0030242  |  Blood clot in portal vein  |  1
HP:0011505  |  Cystoid macular edema  |  1
Disease ID 1444
Disease henoch-sch?nlein purpura
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:5)
C0019080  |  hemorrhage  |  3
C0009450  |  infection  |  2
C0030305  |  pancreatitis  |  2
C0021933  |  intussusception  |  2
C0020538  |  hypertension  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs28940579227835974210MEFVumls:C0034152BeFreeMEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpura.0.0095440732012MEFV163243310AT,G
rs28940580227835974210MEFVumls:C0034152BeFreeMEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpura.0.0095440732012MEFV163243447CT,G
rs3743930206022404210MEFVumls:C0034152BeFreeMEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children.0.0095440732010MEFV163254626CG
rs61732874227835974210MEFVumls:C0034152BeFreeMEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpura.0.0095440732012MEFV163243257CA
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 1444
Disease henoch-sch?nlein purpura
Case(Waiting for update.)