Goodpasture Syndrome

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Disease Ontology 12 DOID:9808 OMIM 56 233450 KEGG 36 H01721 ICD9CM 34 446.21 MeSH 43 D019867 NCIt 49 C84566 SNOMED-CT 67 236506009 ICD10 32 M31.0

ICD10 via Orphanet 33 M31.0+ N08.5* UMLS via Orphanet 72 C0403529 Orphanet 58 ORPHA375 MedGen 41 C0403529 SNOMED-CT via HPO 68 12393003 165397008 197679002 230145002 236423003 258211005 263731006 267036007 271737000 272039006 29738008 29857009 31996006 34436003 36171008 3723001 386661006 387778001 409623005 42059000 423902002 42399005 49727002 50177009 53298000 57650002 57676002 66857006 6686005 68962001 85828009 more EFO 17 EFO_0007290 UMLS 71 C0403529 C0549143 C1332309

NIH Rare Diseases : ⁵² Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis . Some use the term "Goodpasture syndrome" for the findings of glomerulonephritis and pulmonary hemorrhage and the term "Goodpasture disease" for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies . Currently, the preferred term for both conditions is "anti-GBM antibody disease ". Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia , chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility , such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.

MalaCards based summary : Goodpasture Syndrome, also known as anti-glomerular basement membrane disease, is related to anti-basement membrane glomerulonephritis and crescentic glomerulonephritis. An important gene associated with Goodpasture Syndrome is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and Tuberculosis. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and testes, and related phenotypes are proteinuria and anemia

Disease Ontology : ¹² An autoimmune hypersensitivity disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.

KEGG : ³⁶ Goodpasture syndrome (GS), or anti-glomerular basement membrane (anti-GBM) disease, is a rare and organ-specific autoimmune disease defined by anti-GBM antibody-mediated damage (mainly immunoglobulin G-1) resulting in progressive crescentic glomerulonephritis and, frequently, diffuse pulmonary alveolar hemorrhage. Clinically, GS is characterized by pulmonary hemorrhage and renal failure, although the clinical spectrum may range from only mild symptoms to a relentless and finally lethal outcome. This disease accounts for 10-20% of the patients with acute renal failure following a rapidly progressive glomerulonephritis. The disease is caused by an autoimmune response against the non-collagenase domain of the alpha 3 chain of type IV collagen [alpha3(IV)NC1], found in the glomerular and alveolar basement membranes. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death. Early and intensive treatment with plasmapheresis and immunosuppression with systemic corticosteroids pending results of diagnostic testing, and later cyclophosphamide, is often beneficial, with 90% of patients surviving the acute presentation of GS.

Wikipedia : ⁷⁴ Goodpasture syndrome (GPS), also known as anti-glomerular basement membrane disease, is a rare... more...

More information from OMIM: 233450

Clinical features from OMIM:

233450

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.17	ALB CCR6 CD52 COL4A5 FCGR2A PRTN3

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Search GEO for disease gene expression data for Goodpasture Syndrome.