MCID: GDP001
MIFTS: 55

Goodpasture Syndrome

Categories: Rare diseases, Nephrological diseases, Immune diseases, Cardiovascular diseases, Respiratory diseases, Bone diseases

Aliases & Classifications for Goodpasture Syndrome

MalaCards integrated aliases for Goodpasture Syndrome:

Name: Goodpasture Syndrome 53 12 49 55 36 51 14
Anti-Glomerular Basement Membrane Disease 12 55 41 69
Pulmonary Renal Syndrome 49 69
Rapidly Progressive Glomerulonephritis with Pulmonary Hemorrhage 49
Anti-Glomerular Basement Membrane Antibody Disease 49
Anti-Basement Membrane Glomerulonephritis 69
Glomerulonephritis - Pulmonary Hemorrhage 49
Goodpasture's Syndrome 72
Anti-Gbm Syndrome 55
Anti-Gbm Disease 51

Characteristics:

Orphanet epidemiological data:

55
anti-glomerular basement membrane disease
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
goodpasture syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Goodpasture Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/28/2017

MalaCards based summary : Goodpasture Syndrome, also known as anti-glomerular basement membrane disease, is related to rapidly progressive glomerulonephritis and end stage renal failure, and has symptoms including arthralgia, myalgia and fever. An important gene associated with Goodpasture Syndrome is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located in kidney and hemorrhaging located in lung.

Wikipedia : 72 Goodpasture syndrome (GPS) is a rare autoimmune disease in which antibodies attack the basement membrane... more...

Description from OMIM: 233450

Related Diseases for Goodpasture Syndrome

Diseases related to Goodpasture Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 rapidly progressive glomerulonephritis 31.3 CD79A MPO
2 end stage renal failure 28.7 CD79A COL4A5
3 glomerulonephritis 27.8 CD79A COL4A3 COL4A4 COL4A5 MPO
4 corneal dystrophy, posterior polymorphous, 3 10.2 COL4A3 COL4A4
5 dermatomyositis 10.0
6 psoriasis 10.0
7 cerebral arteritis 10.0 CD79A COL4A3
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
9 monoclonal paraproteinemia 9.9 CD79A MPO
10 maxillary sinusitis 9.9 CD79A MPO
11 bronchopneumonia 9.9 CD79A MPO
12 inner ear disease 9.9 COL4A5 MPO
13 hypersensitivity vasculitis 9.9 CD79A MPO
14 hypersensitivity reaction type iii disease 9.9 CD79A MPO
15 vulvitis 9.9 CD79A MPO
16 cogan syndrome 9.9 CD79A COL4A3
17 periodontosis 9.9 CD79A MPO
18 henoch-schoenlein purpura 9.9 CD79A MPO
19 ulcerative stomatitis 9.9 CD79A MPO
20 collagenous colitis 9.8 CD79A MPO
21 pulmonary hemosiderosis 9.8 CD79A MPO
22 cicatricial pemphigoid 9.8 CD79A NID1
23 chronic maxillary sinusitis 9.8 CD79A MPO
24 alport syndrome and thin basement membrane nephropathy 9.8 COL4A3 COL4A4 COL4A5
25 hematuria, benign familial 9.8 COL4A3 COL4A4 COL4A5
26 alport syndrome, autosomal dominant 9.8 COL4A3 COL4A4 COL4A5
27 vernal conjunctivitis 9.8 CD79A MPO
28 alport syndrome, autosomal recessive 9.8 COL4A3 COL4A4 COL4A5
29 leiomyomatosis 9.8 COL4A3 COL4A4 COL4A5
30 focal segmental glomerulosclerosis 9.8 COL4A3 COL4A4 COL4A5
31 vasculitis 9.8
32 extrinsic allergic alveolitis 9.7 CD79A MPO
33 wegener granulomatosis 9.7
34 adult respiratory distress syndrome 9.7
35 respiratory failure 9.7
36 adenocarcinoma 9.7
37 churg-strauss syndrome 9.7
38 purpura 9.7
39 influenza 9.7
40 microscopic polyangiitis 9.7
41 streptococcal group a invasive disease 9.7
42 encephalopathy 9.7
43 intestinal disease 9.7 CD79A MPO
44 acute proliferative glomerulonephritis 9.7 CD79A COL4A3 MPO
45 kidney disease 9.7 COL4A3 COL4A4 COL4A5
46 bronchitis 9.6 CD79A MPO
47 respiratory system disease 9.4 CD79A MPO
48 alport syndrome, x-linked 8.9 CD79A COL4A3 COL4A4 COL4A5 NID1

Comorbidity relations with Goodpasture Syndrome via Phenotypic Disease Network (PDN):


Acute Kidney Failure Chronic Kidney Failure
Deficiency Anemia Heart Disease
Respiratory Failure

Graphical network of the top 20 diseases related to Goodpasture Syndrome:



Diseases related to Goodpasture Syndrome

Symptoms & Phenotypes for Goodpasture Syndrome

Symptoms via clinical synopsis from OMIM:

53
Pulmonary:
dyspnea
hemoptysis
pulmonary infiltrates
pulmonary hemorrhage

Lab:
proteinuria
circulating antibodies to alpha-3 chain of type iv collagen

GU:
renal insufficiency
hematuria
glomrulonephritis

Immunology:
autoimmune disease


Clinical features from OMIM:

233450

Human phenotypes related to Goodpasture Syndrome:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002829
2 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
3 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
4 hemoptysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002105
5 chest pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0100749
6 respiratory insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002093
7 arthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001369
8 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
9 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
10 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
11 autoimmunity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002960
12 glomerulopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0100820
13 hematuria 55 31 frequent (33%) Frequent (79-30%) HP:0000790
14 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541
15 purpura 55 31 occasional (7.5%) Occasional (29-5%) HP:0000979
16 cough 55 31 hallmark (90%) Very frequent (99-80%) HP:0012735
17 vasculitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002633
18 pulmonary infiltrates 55 31 hallmark (90%) Very frequent (99-80%) HP:0002113
19 persistence of primary teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0006335
20 dyspnea 31 HP:0002094
21 glomerulonephritis 31 HP:0000099
22 pulmonary hemorrhage 31 HP:0040223

GenomeRNAi Phenotypes related to Goodpasture Syndrome according to GeneCards Suite gene sharing:

25 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.12 MPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.12 CD79A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.12 NID1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.12 COL4A3BP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.12 RAN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.12 MPO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.12 RAN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.12 RAN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.12 COL4A3BP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.12 MPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.12 RAN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.12 RAN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.12 RAN
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.12 MPO
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.12 CD79A COL4A3BP NID1 RAN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.12 MPO
17 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.12 RAN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.12 RAN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.12 COL4A3BP MPO
20 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.12 RAN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.12 RAN NID1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.12 MPO
23 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.12 NID1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.12 MPO
25 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.12 RAN
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.12 CD79A COL4A3BP NID1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.12 COL4A3BP NID1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.12 RAN MPO
29 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.12 CD79A MPO RAN
30 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.12 CD79A
31 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.12 RAN
32 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.12 COL4A3BP

MGI Mouse Phenotypes related to Goodpasture Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.43 CD79A COL4A3 COL4A3BP COL4A4 COL4A5 MPO
2 vision/eye MP:0005391 9.02 COL4A3 COL4A3BP COL4A4 COL4A5 NID1

Drugs & Therapeutics for Goodpasture Syndrome

Drugs for Goodpasture Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
2 Hypoglycemic Agents Phase 2, Phase 3
3 Antibodies Phase 2
4 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison Study of Cefazolin Versus Cefazolin Plus Azithromycin Prophylaxis in Post-Cesarean Endometritis Withdrawn NCT01721616 Phase 4 Azithromycin;Cefazolin
2 Efficacy Study of Metformin Glycinate on Postprandial Lipemia Recruiting NCT02064881 Phase 2, Phase 3 Metformin glycinate;Metformin Hydrochloride
3 An Open-Label Phase II Study to Evaluate the Efficacy and Safety of IdeS in Anti-GBM Disease (GOOD-IDES) Recruiting NCT03157037 Phase 2

Search NIH Clinical Center for Goodpasture Syndrome

Cochrane evidence based reviews: anti-glomerular basement membrane disease

Genetic Tests for Goodpasture Syndrome

Anatomical Context for Goodpasture Syndrome

The Foundational Model of Anatomy Ontology organs/tissues related to Goodpasture Syndrome:

18
Lung, Kidney

MalaCards organs/tissues related to Goodpasture Syndrome:

38
Lung, Kidney, Bone, Bone Marrow, Monocytes, T Cells

Publications for Goodpasture Syndrome

Articles related to Goodpasture Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
Particularities of Goodpasture Syndrome. ( 29034872 )
2017
2
Goodpasture Syndrome (Anti-glomerular Basement Membrane Antibody Disease) ( 29083697 )
2017
3
Outcomes of patients with Goodpasture syndrome: A nationwide cohort-based study from the French Society of Hemapheresis. ( 27267459 )
2016
4
Goodpasture Syndrome Diagnosed One Year And A Half after the Appearance of the First Symptoms (Case Report). ( 28028414 )
2016
5
Severe adult respiratory distress syndrome from Goodpasture syndrome. Survival using extracorporeal membrane oxygenation. ( 25590156 )
2015
6
Clinical management of pregnancy in women with Goodpasture syndrome. ( 25634441 )
2015
7
Goodpasture syndrome and posterior reversible encephalopathy syndrome. ( 25982503 )
2015
8
Prolonged venovenous extracorporeal membrane oxygenation without anticoagulation: a case of Goodpasture syndrome-related pulmonary haemorrhage. ( 24588439 )
2014
9
Reversible posterior leukoencephalopathy in the course of Goodpasture syndrome. ( 22251235 )
2012
10
Cellular and molecular aspects of Goodpasture syndrome. ( 22218111 )
2012
11
Plasma exchange in Goodpasture syndrome associated with Turner's syndrome: A case report. ( 23515881 )
2012
12
Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia. ( 26069804 )
2012
13
Reversible posterior leukoencephalopathy syndrome in Goodpasture syndrome. ( 22806294 )
2012
14
Extracorporeal membrane oxygenation as a platform for recovery: a case report of a child with pulmonary hemorrhage, refractory hypoxemic respiratory failure, and new onset goodpasture syndrome. ( 22893987 )
2012
15
Epidemiology and etiology of wegener granulomatosis, microscopic polyangiitis, churg-strauss syndrome and goodpasture syndrome: vasculitides with frequent lung involvement. ( 21674413 )
2011
16
A case of Goodpasture syndrome positive for anti-GBM antibody and MPO-ANCA complicated by a variety of serious infections. ( 21426895 )
2011
17
Plasma exchange for Goodpasture syndrome. ( 20117054 )
2010
18
Goodpasture's 1919 article on the etiology of influenza-the historical road to what we now call Goodpasture Syndrome. ( 19680022 )
2009
19
Migratory pulmonary infiltrates. Goodpasture syndrome. ( 19124794 )
2009
20
Patient with antibody-negative relapse of Goodpasture syndrome. ( 17474560 )
2007
21
Anti-glomerular basement membrane antibodies in the diagnosis of Goodpasture syndrome: a comparison of different assays. ( 16234289 )
2006
22
Zebrafish to humans: evolution of the alpha3-chain of type IV collagen and emergence of the autoimmune epitopes associated with Goodpasture syndrome. ( 16254142 )
2006
23
Goodpasture syndrome in a pregnant woman. ( 16260570 )
2005
24
Goodpasture syndrome. ( 16183752 )
2005
25
Pathogenesis of Goodpasture syndrome: a molecular perspective. ( 14631560 )
2003
26
Goodpasture syndrome during the course of a SchAPnlein-Henoch purpura. ( 11979333 )
2002
27
Renal fibroblast-like cells in Goodpasture syndrome rats. ( 11473642 )
2001
28
Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses renal injury in mouse Goodpasture syndrome. ( 11418463 )
2001
29
Goodpasture syndrome: pathophysiology, diagnosis, and management. ( 12143452 )
2001
30
Goodpasture syndrome. ( 15912919 )
2000
31
Inhibition of monocyte chemoattractant protein-1 expression in tubular epithelium attenuates tubulointerstitial alteration in rat Goodpasture syndrome. ( 10720946 )
2000
32
Reactive oxygen species expose cryptic epitopes associated with autoimmune goodpasture syndrome. ( 10748075 )
2000
33
Goodpasture syndrome. ( 10027952 )
1999
34
Complete recovery of renal function in a dialysis-dependent patient with Goodpasture syndrome. ( 9509464 )
1998
35
Goodpasture syndrome and end-stage renal failure--to transplant or not to transplant? ( 9641155 )
1998
36
Goodpasture syndrome involving overlap with Wegener's granulomatosis and anti-glomerular basement membrane disease. ( 9355084 )
1997
37
Anti-GBM antibodies in Goodpasture syndrome; anatomy of an epitope. ( 9140985 )
1997
38
Susceptibility to anti-glomerular basement membrane disease and Goodpasture syndrome is linked to MHC class II genes and the emergence of T cell-mediated immunity in mice. ( 9410904 )
1997
39
Pregnancy in a patient with Goodpasture syndrome and renal transplantation. ( 8672189 )
1996
40
Sera from patients with anti-GBM nephritis including goodpasture syndrome show heterogenous reactivity to recombinant NC1 domain of type IV collagen alpha chains. ( 8941581 )
1996
41
Specificity of circulating and tissue-bound autoantibodies in Goodpasture syndrome. ( 8705733 )
1996
42
Goodpasture syndrome: selective removal of anti-alpha 3 (IV) collagen autoantibodies. A potential therapeutic alternative to plasmapheresis. ( 8864724 )
1996
43
Anti-alpha1(IV) collagen autoantibodies associated with lung adenocarcinoma presenting as the Goodpasture syndrome. ( 8607593 )
1996
44
Identification of the alpha 3 chain of type IV collagen as the common autoantigen in antibasement membrane disease and Goodpasture syndrome. ( 8589284 )
1995
45
The alpha 3 chain of type IV collagen induces autoimmune Goodpasture syndrome. ( 8016138 )
1994
46
Anti-type IV collagen antibodies in Goodpasture syndrome. ( 8004967 )
1994
47
Goodpasture syndrome: molecular and clinical advances. ( 8041241 )
1994
48
Provocation of pulmonary haemorrhage in Goodpasture syndrome by chlorine gas. ( 8384347 )
1993
49
Pregnancy complicated by Goodpasture syndrome. ( 1565371 )
1992
50
Isolated pulmonary Goodpasture syndrome. ( 1946080 )
1991

Variations for Goodpasture Syndrome

Expression for Goodpasture Syndrome

Search GEO for disease gene expression data for Goodpasture Syndrome.

Pathways for Goodpasture Syndrome

Pathways related to Goodpasture Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 CD79A COL4A3 COL4A4 COL4A5
2
Show member pathways
12.41 COL4A3 COL4A4 COL4A5 NID1
3
Show member pathways
12.26 COL4A3 COL4A4 COL4A5
4
Show member pathways
12.21 COL4A3 COL4A4 COL4A5
5
Show member pathways
11.83 COL4A3 COL4A4 COL4A5
6 11.6 COL4A3 COL4A4 COL4A5
7 11.56 COL4A3 COL4A4 COL4A5
8 11.51 COL4A3 COL4A4 COL4A5
9 11.37 COL4A3 COL4A4 COL4A5
10 11.12 COL4A3 COL4A4 COL4A5
11 10.93 COL4A3 COL4A4 COL4A5
12 10.71 COL4A3 COL4A4 COL4A5 NID1
13 10.7 COL4A3 COL4A4 COL4A5

GO Terms for Goodpasture Syndrome

Cellular components related to Goodpasture Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.62 COL4A3 COL4A4 COL4A5 NID1
2 collagen trimer GO:0005581 9.56 COL4A3 COL4A3BP COL4A4 COL4A5
3 endoplasmic reticulum lumen GO:0005788 9.54 COL4A3 COL4A4 COL4A5
4 basal lamina GO:0005605 9.33 COL4A4 COL4A5 NID1
5 basement membrane GO:0005604 9.26 COL4A3 COL4A4 COL4A5 NID1
6 collagen type IV trimer GO:0005587 8.8 COL4A3 COL4A4 COL4A5

Biological processes related to Goodpasture Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 9.33 COL4A3 COL4A4 COL4A5
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.26 COL4A3 COL4A5
3 extracellular matrix organization GO:0030198 9.26 COL4A3 COL4A4 COL4A5 NID1
4 glomerular basement membrane development GO:0032836 8.8 COL4A3 COL4A4 NID1

Molecular functions related to Goodpasture Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 COL4A3 COL4A4 COL4A5

Sources for Goodpasture Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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