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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Henoch-Schoenlein purpura
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Accession:DOID:11123 term browser browse the term
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.
Synonyms:exact_synonym: Anaphylactoid Purpura;   HSP;   Hemorrhagic Vasculitis;   Henoch Purpura;   Henoch Schonlein Purpura;   Henoch Schonlein Purpuras;   Henoch-Sch@nlein purpura;   Henoch-Scholein purpura;   IgA vasculitis;   IgAV;   Nonthrombocytopenic Purpura;   Nonthrombopenic Purpura;   Nonthrombopenic Purpuras;   Purpura Hemorrhagica;   Purpura, autoimmune;   allergic purpura;   rheumatoid purpura
 narrow_synonym: Henoch-Schoenlein purpura nephritis
 primary_id: MESH:D011695
 alt_id: RDO:0003056
 xref: GARD:8204;   ICD10CM:D69.0;   ICD9CM:287.0;   NCI:C34963
For additional species annotation, visit the Alliance of Genome Resources.


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Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)
RGD PMID:16521052, PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)
RGD PMID:26234573, PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin susceptibility ISO DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)
RGD PMID:22451026, PMID:25232290, PMID:20602240 RGD:7349346, RGD:11531116, RGD:7349347 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298, PMID:12671112 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        hemorrhagic disease 611
          vascular hemostatic disease 298
            Henoch-Schoenlein purpura 15
              Vascular Purpura 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          blood coagulation disease 624
            hemorrhagic disease 611
              purpura 63
                Henoch-Schoenlein purpura 15
                  Vascular Purpura 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.