MCID: GDP001
MIFTS: 55

Goodpasture Syndrome

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

Aliases & Classifications for Goodpasture Syndrome

MalaCards integrated aliases for Goodpasture Syndrome:

Name: Goodpasture Syndrome 57 12 53 59 55 15
Anti-Glomerular Basement Membrane Disease 12 59 44 73
Pulmonary Renal Syndrome 53 73
Rapidly Progressive Glomerulonephritis with Pulmonary Hemorrhage 53
Anti-Glomerular Basement Membrane Antibody Disease 53
Anti-Glomerular Basement Membrane Disease 37
Anti-Basement Membrane Glomerulonephritis 73
Glomerulonephritis - Pulmonary Hemorrhage 53
Goodpasture's Syndrome 76
Anti-Gbm Syndrome 59
Anti-Gbm Disease 55

Characteristics:

Orphanet epidemiological data:

59
anti-glomerular basement membrane disease
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
goodpasture syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Goodpasture Syndrome

NIH Rare Diseases : 53 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 rapidly progressive glomerulonephritis and end stage renal failure. 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 respiratory insufficiency and arthritis

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

Wikipedia : 76 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 rapidly progressive glomerulonephritis 31.7 CD79A MPO
2 end stage renal failure 28.5 CD79A COL4A5
3 glomerulonephritis 27.0 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 inner ear disease 9.9 COL4A5 MPO
9 castleman disease 9.9
10 vasculitis 9.9
11 monoclonal paraproteinemia 9.9 CD79A MPO
12 maxillary sinusitis 9.9 CD79A MPO
13 cogan syndrome 9.8 CD79A COL4A3
14 hypersensitivity vasculitis 9.8 CD79A MPO
15 bronchopneumonia 9.8 CD79A MPO
16 hypersensitivity reaction type iii disease 9.8 CD79A MPO
17 vulvitis 9.8 CD79A MPO
18 periodontosis 9.8 CD79A MPO
19 henoch-schoenlein purpura 9.8 CD79A MPO
20 ulcerative stomatitis 9.8 CD79A MPO
21 collagenous colitis 9.8 CD79A MPO
22 pulmonary hemosiderosis 9.8 CD79A MPO
23 scleroderma, familial progressive 9.8
24 chronic maxillary sinusitis 9.7 CD79A MPO
25 wegener granulomatosis 9.7
26 lung cancer susceptibility 3 9.7
27 adult respiratory distress syndrome 9.7
28 respiratory failure 9.7
29 adenocarcinoma 9.7
30 churg-strauss syndrome 9.7
31 purpura 9.7
32 placenta disease 9.7
33 influenza 9.7
34 allergic angiitis 9.7
35 microscopic polyangiitis 9.7
36 encephalopathy 9.7
37 vernal conjunctivitis 9.7 CD79A MPO
38 alport syndrome and thin basement membrane nephropathy 9.7 COL4A3 COL4A4 COL4A5
39 hematuria, benign familial 9.6 COL4A3 COL4A4 COL4A5
40 alport syndrome, autosomal dominant 9.6 COL4A3 COL4A4 COL4A5
41 alport syndrome, autosomal recessive 9.6 COL4A3 COL4A4 COL4A5
42 extrinsic allergic alveolitis 9.6 CD79A MPO
43 leiomyomatosis 9.6 COL4A3 COL4A4 COL4A5
44 focal segmental glomerulosclerosis 9.6 COL4A3 COL4A4 COL4A5
45 intestinal disease 9.6 CD79A MPO
46 bronchitis 9.6 CD79A MPO
47 acute proliferative glomerulonephritis 9.5 CD79A COL4A3 MPO
48 respiratory system disease 9.4 CD79A MPO
49 membranous nephropathy 9.3 CD79A MPO
50 gastrointestinal system disease 9.1 CD79A MPO

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:

57
GU:
renal insufficiency
hematuria
glomrulonephritis

Pulmonary:
dyspnea
hemoptysis
pulmonary infiltrates
pulmonary hemorrhage

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

Immunology:
autoimmune disease


Clinical features from OMIM:

233450

Human phenotypes related to Goodpasture Syndrome:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
2 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
3 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
4 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
5 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
6 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
7 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
8 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
9 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
10 glomerulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100820
11 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
12 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
13 hemoptysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002105
14 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
15 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
16 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
17 vasculitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002633
18 pulmonary infiltrates 59 32 hallmark (90%) Very frequent (99-80%) HP:0002113
19 persistence of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006335
20 dyspnea 32 HP:0002094
21 glomerulonephritis 32 HP:0000099
22 pulmonary hemorrhage 32 HP:0040223

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

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.11 MPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.11 CD79A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.11 NID1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.11 COL4A3BP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.11 RAN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.11 MPO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.11 RAN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.11 RAN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.11 COL4A3BP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.11 MPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.11 RAN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.11 RAN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.11 RAN
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.11 MPO
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.11 COL4A3BP NID1 RAN CD79A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.11 MPO
17 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.11 RAN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.11 COL4A3BP MPO
19 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.11 RAN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.11 NID1 RAN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.11 MPO
22 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.11 NID1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.11 MPO
24 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.11 RAN
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.11 NID1 CD79A COL4A3BP
26 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.11 COL4A3BP NID1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.11 MPO RAN
28 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.11 MPO RAN CD79A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.11 CD79A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.11 RAN
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.11 COL4A3BP

MGI Mouse Phenotypes related to Goodpasture Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.43 COL4A5 MPO CD79A COL4A3 COL4A3BP COL4A4
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 14219 4091
2 Hypoglycemic Agents Phase 2, Phase 3
3 Immunoglobulin G Phase 2
4 Antibodies Phase 2
5 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 Alemtuzumab in Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIPD) Withdrawn NCT01757574 Phase 4 Alemtuzumab infusion
3 Efficacy Study of Metformin Glycinate on Postprandial Lipemia Recruiting NCT02064881 Phase 2, Phase 3 Metformin glycinate;Metformin Hydrochloride
4 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:

19
Lung, Kidney

MalaCards organs/tissues related to Goodpasture Syndrome:

41
Lung, Kidney, Bone, Bone Marrow, T Cells, Monocytes

Publications for Goodpasture Syndrome

Articles related to Goodpasture Syndrome:

(show top 50) (show all 64)
# Title Authors Year
1
The treatment of ANCA-associated rapidly-progressive glomerulonephritis and Goodpasture syndrome with therapeutic apheresis. ( 29503131 )
2018
2
Goodpasture Syndrome (Anti-glomerular Basement Membrane Antibody Disease) ( 29083697 )
2017
3
Particularities of Goodpasture Syndrome. ( 29034872 )
2017
4
Outcomes of patients with Goodpasture syndrome: A nationwide cohort-based study from the French Society of Hemapheresis. ( 27267459 )
2016
5
Goodpasture Syndrome Diagnosed One Year And A Half after the Appearance of the First Symptoms (Case Report). ( 28028414 )
2016
6
Clinical management of pregnancy in women with Goodpasture syndrome. ( 25634441 )
2015
7
Severe adult respiratory distress syndrome from Goodpasture syndrome. Survival using extracorporeal membrane oxygenation. ( 25590156 )
2015
8
Goodpasture syndrome and posterior reversible encephalopathy syndrome. ( 25982503 )
2015
9
Prolonged venovenous extracorporeal membrane oxygenation without anticoagulation: a case of Goodpasture syndrome-related pulmonary haemorrhage. ( 24588439 )
2014
10
Reversible posterior leukoencephalopathy syndrome in Goodpasture syndrome. ( 22806294 )
2012
11
Reversible posterior leukoencephalopathy in the course of Goodpasture syndrome. ( 22251235 )
2012
12
Cellular and molecular aspects of Goodpasture syndrome. ( 22218111 )
2012
13
Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia. ( 26069804 )
2012
14
Plasma exchange in Goodpasture syndrome associated with Turner's syndrome: A case report. ( 23515881 )
2012
15
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
16
Epidemiology and etiology of wegener granulomatosis, microscopic polyangiitis, churg-strauss syndrome and goodpasture syndrome: vasculitides with frequent lung involvement. ( 21674413 )
2011
17
A case of Goodpasture syndrome positive for anti-GBM antibody and MPO-ANCA complicated by a variety of serious infections. ( 21426895 )
2011
18
Plasma exchange for Goodpasture syndrome. ( 20117054 )
2010
19
Goodpasture's 1919 article on the etiology of influenza-the historical road to what we now call Goodpasture Syndrome. ( 19680022 )
2009
20
Migratory pulmonary infiltrates. Goodpasture syndrome. ( 19124794 )
2009
21
Patient with antibody-negative relapse of Goodpasture syndrome. ( 17474560 )
2007
22
Anti-glomerular basement membrane antibodies in the diagnosis of Goodpasture syndrome: a comparison of different assays. ( 16234289 )
2006
23
Zebrafish to humans: evolution of the alpha3-chain of type IV collagen and emergence of the autoimmune epitopes associated with Goodpasture syndrome. ( 16254142 )
2006
24
Goodpasture syndrome in a pregnant woman. ( 16260570 )
2005
25
Goodpasture syndrome. ( 16183752 )
2005
26
Pathogenesis of Goodpasture syndrome: a molecular perspective. ( 14631560 )
2003
27
Goodpasture syndrome during the course of a SchAPnlein-Henoch purpura. ( 11979333 )
2002
28
Goodpasture syndrome: pathophysiology, diagnosis, and management. ( 12143452 )
2001
29
Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses renal injury in mouse Goodpasture syndrome. ( 11418463 )
2001
30
Renal fibroblast-like cells in Goodpasture syndrome rats. ( 11473642 )
2001
31
Goodpasture syndrome. ( 15912919 )
2000
32
Reactive oxygen species expose cryptic epitopes associated with autoimmune goodpasture syndrome. ( 10748075 )
2000
33
Inhibition of monocyte chemoattractant protein-1 expression in tubular epithelium attenuates tubulointerstitial alteration in rat Goodpasture syndrome. ( 10720946 )
2000
34
Goodpasture syndrome. ( 10027952 )
1999
35
Goodpasture syndrome and end-stage renal failure--to transplant or not to transplant? ( 9641155 )
1998
36
Complete recovery of renal function in a dialysis-dependent patient with Goodpasture syndrome. ( 9509464 )
1998
37
Goodpasture syndrome involving overlap with Wegener's granulomatosis and anti-glomerular basement membrane disease. ( 9355084 )
1997
38
Anti-GBM antibodies in Goodpasture syndrome; anatomy of an epitope. ( 9140985 )
1997
39
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
40
Specificity of circulating and tissue-bound autoantibodies in Goodpasture syndrome. ( 8705733 )
1996
41
Pregnancy in a patient with Goodpasture syndrome and renal transplantation. ( 8672189 )
1996
42
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
43
Goodpasture syndrome: selective removal of anti-alpha 3 (IV) collagen autoantibodies. A potential therapeutic alternative to plasmapheresis. ( 8864724 )
1996
44
Anti-alpha1(IV) collagen autoantibodies associated with lung adenocarcinoma presenting as the Goodpasture syndrome. ( 8607593 )
1996
45
Identification of the alpha 3 chain of type IV collagen as the common autoantigen in antibasement membrane disease and Goodpasture syndrome. ( 8589284 )
1995
46
The alpha 3 chain of type IV collagen induces autoimmune Goodpasture syndrome. ( 8016138 )
1994
47
Goodpasture syndrome: molecular and clinical advances. ( 8041241 )
1994
48
Anti-type IV collagen antibodies in Goodpasture syndrome. ( 8004967 )
1994
49
Provocation of pulmonary haemorrhage in Goodpasture syndrome by chlorine gas. ( 8384347 )
1993
50
Pregnancy complicated by Goodpasture syndrome. ( 1565371 )
1992

Variations for Goodpasture Syndrome

Expression for Goodpasture Syndrome

Search GEO for disease gene expression data for Goodpasture Syndrome.

Pathways for Goodpasture Syndrome

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 extracellular region GO:0005576 9.77 COL4A3 COL4A4 COL4A5 MPO NID1
2 collagen trimer GO:0005581 9.56 COL4A3 COL4A3BP COL4A4 COL4A5
3 endoplasmic reticulum lumen GO:0005788 9.5 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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