MCID: GDP001
MIFTS: 49

Goodpasture Syndrome malady

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

Aliases & Classifications for Goodpasture Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Goodpasture Syndrome:

Name: Goodpasture Syndrome 52 11 48 54 50 13
Anti-Glomerular Basement Membrane Disease 11 54 39 68
Pulmonary Renal Syndrome 48 68
Rapidly Progressive Glomerulonephritis with Pulmonary Hemorrhage 48
Anti-Glomerular Basement Membrane Antibody Disease 48
 
Anti-Basement Membrane Glomerulonephritis 68
Glomerulonephritis - Pulmonary Hemorrhage 48
Anti-Gbm Syndrome 54
Anti-Gbm Disease 50

Characteristics:

Orphanet epidemiological data:

54
goodpasture syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult

HPO:

64
goodpasture syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 233450
Disease Ontology11 DOID:9808
ICD1030 M31.0
ICD9CM32 446.21
MeSH39 D019867
Orphanet54 ORPHA375
UMLS via Orphanet69 C0403529
ICD10 via Orphanet31 M31.0+, N08.5*

Summaries for Goodpasture Syndrome

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NIH Rare Diseases:48 Goodpasture syndrome is an autoimmune disease of unknown cause 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), thereby resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveolus) resulting in bleeding of the lung (pulmonary hemorrhage). Anti-GBM antibody disease is most often idiopathic, although it can occasionally follow pulmonary infections or be associated with pulmonary injury. Diagnosis is confirmed with the presence of anti-GBM antibody in blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. Last updated: 9/22/2015

MalaCards based summary: Goodpasture Syndrome, also known as anti-glomerular basement membrane disease, is related to rapidly progressive glomerulonephritis and alport syndrome, autosomal dominant, and has symptoms including proteinuria, anemia and respiratory insufficiency. An important gene associated with Goodpasture Syndrome is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways are PI3K-Akt signaling pathway and ECM-receptor interaction. Affiliated tissues include kidney, lung and lung, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and renal/urinary system.

Disease Ontology:11 A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located in kidney and hemorrhaging located in lung.

Wikipedia:71 Goodpasture syndrome (GPS; also known as Goodpasture’s disease, antiglomerular basement antibody... more...

Description from OMIM:52 233450

Related Diseases for Goodpasture Syndrome

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1rapidly progressive glomerulonephritis10.9
2alport syndrome, autosomal dominant10.3COL4A3, COL4A4
3corneal endothelial dystrophy 1, autosomal dominant10.1COL4A3, COL4A4
4heart disease10.0CD79A, COL4A3
5dermatomyositis10.0
6psoriasis10.0
7benign meningioma9.9CD79A, MPO
8arteriosclerosis9.9CD79A, MPO
9crest syndrome9.9CD79A, COL4A3
10chronic mucocutaneous candidiasis9.9CD79A, MPO
11acquired thrombocytopenia9.9CD79A, MPO
12polyarteritis nodosa9.9CD79A, MPO
13suppurative uveitis9.9CD79A, MPO
14chromoblastomycosis9.9CD79A, MPO
15complex partial epilepsy9.9CD79A, MPO
16meibomian cyst9.9CD79A, MPO
17autosomal dominant nocturnal frontal lobe epilepsy9.9COL4A3, COL4A4, COL4A5
18clostridium difficile colitis9.9CD79A, MPO
19hematuria, benign familial9.9COL4A3, COL4A4, COL4A5
20alport syndrome, autosomal recessive9.9COL4A3, COL4A4, COL4A5
21lung squamous cell carcinoma9.8CD79A, MPO
22vulvar leiomyoma9.8COL4A3, COL4A4, COL4A5
23fg syndrome 59.8COL4A3, COL4A4, COL4A5
24yellow fever9.8CD79A, MPO
25pulmonary alveolar proteinosis9.8CD79A, MPO
26sphenoid sinusitis9.8CD79A, MPO
27kidney angiomyolipoma9.8CD79A, MPO
28lymphopenia9.7CD79A, MPO
29vasculitis9.7
30rectum leiomyosarcoma9.7CD79A, MPO
31laryngeal tuberculosis9.7CD79A, MPO
32proliferative glomerulonephritis9.6CD79A, COL4A3, MPO
33wegener granulomatosis9.6
34adult respiratory distress syndrome9.6
35end stage renal failure9.6
36glomerulonephritis9.6
37respiratory failure9.6
38adenocarcinoma9.6
39churg-strauss syndrome9.6
40purpura9.6
41influenza9.6
42eosinophilia9.6
43microscopic polyangiitis9.6
44encephalopathy9.6
45granuloma annulare9.6CD79A, COL4A3, MPO
46basaloid squamous cell carcinoma9.6CD79A, MPO
47exocrine pancreatic insufficiency9.6CD79A, COL4A5
48hodgkin's lymphoma, mixed cellularity9.5CD79A, MPO
49perianal skin paget's disease9.3CD79A, MPO
50eosinophilic fasciitis8.0CD79A, COL4A3, COL4A3BP, COL4A5, MPO, NID1

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


Deficiency AnemiaAcute Kidney Failure
Chronic Kidney FailureRespiratory Failure
Heart Disease

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



Diseases related to goodpasture syndrome

Symptoms & Phenotypes for Goodpasture Syndrome

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Symptoms by clinical synopsis from OMIM:

233450

Clinical features from OMIM:

233450

Human phenotypes related to Goodpasture Syndrome:

 64 54 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria64 54 hallmark (90%) Very frequent (99-80%) HP:0000093
2 anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001903
3 respiratory insufficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0002093
4 hemoptysis64 54 hallmark (90%) Very frequent (99-80%) HP:0002105
5 pulmonary infiltrates64 54 hallmark (90%) Very frequent (99-80%) HP:0002113
6 pulmonary embolism64 hallmark (90%) HP:0002204
7 vasculitis64 54 hallmark (90%) Very frequent (99-80%) HP:0002633
8 autoimmunity64 54 hallmark (90%) Very frequent (99-80%) HP:0002960
9 chest pain64 54 hallmark (90%) Very frequent (99-80%) HP:0100749
10 glomerulopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0100820
11 hematuria64 54 typical (50%) Frequent (79-30%) HP:0000790
12 renal insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0000083
13 retinal detachment64 54 occasional (7.5%) Occasional (29-5%) HP:0000541
14 arthritis64 54 occasional (7.5%) Occasional (29-5%) HP:0001369
15 subcutaneous hemorrhage64 occasional (7.5%) HP:0001933
16 arthralgia64 54 occasional (7.5%) Occasional (29-5%) HP:0002829
17 myalgia64 54 occasional (7.5%) Occasional (29-5%) HP:0003326
18 abnormality of temperature regulation64 occasional (7.5%) HP:0004370
19 glomerulonephritis64 HP:0000099
20 dyspnea64 HP:0002094
21 purpura54 Occasional (29-5%)
22 fever54 Occasional (29-5%)
23 persistence of primary teeth54 Very frequent (99-80%)
24 cough54 Very frequent (99-80%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-357.1CD79A, COL4A3BP, NID1, RAN, CD79A, MPO

MGI Mouse Phenotypes related to Goodpasture Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3CD79A, COL4A3, COL4A4, COL4A5

Drugs & Therapeutics for Goodpasture Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MetforminapprovedPhase 2, Phase 31746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
2Hypoglycemic AgentsPhase 2, Phase 35733

Interventional clinical trials:

idNameStatusNCT IDPhase
1Comparison Study of Cefazolin Versus Cefazolin Plus Azithromycin Prophylaxis in Post-Cesarean EndometritisWithdrawnNCT01721616Phase 4
2Efficacy Study of Metformin Glycinate on Postprandial LipemiaUnknown statusNCT02064881Phase 2, Phase 3

Search NIH Clinical Center for Goodpasture Syndrome


Cochrane evidence based reviews: anti-glomerular basement membrane disease

Genetic Tests for Goodpasture Syndrome

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Anatomical Context for Goodpasture Syndrome

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MalaCards organs/tissues related to Goodpasture Syndrome:

36
Lung, Kidney, Bone, T cells, Monocytes, Bone marrow

FMA organs/tissues related to Goodpasture Syndrome:

17
Kidney, Lung

Publications for Goodpasture Syndrome

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Articles related to Goodpasture Syndrome:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Outcomes of patients with Goodpasture syndrome: A nationwide cohort-based study from the French Society of Hemapheresis. (27267459)
2016
2
Goodpasture Syndrome Diagnosed One Year And A Half after the Appearance of the First Symptoms (Case Report). (28028414)
2016
3
Clinical management of pregnancy in women with Goodpasture syndrome. (25634441)
2015
4
Severe adult respiratory distress syndrome from Goodpasture syndrome. Survival using extracorporeal membrane oxygenation. (25590156)
2015
5
Goodpasture syndrome and posterior reversible encephalopathy syndrome. (25982503)
2015
6
Prolonged venovenous extracorporeal membrane oxygenation without anticoagulation: a case of Goodpasture syndrome-related pulmonary haemorrhage. (24588439)
2014
7
Plasma exchange in Goodpasture syndrome associated with Turner's syndrome: A case report. (23515881)
2012
8
Reversible posterior leukoencephalopathy syndrome in Goodpasture syndrome. (22806294)
2012
9
Reversible posterior leukoencephalopathy in the course of Goodpasture syndrome. (22251235)
2012
10
Cellular and molecular aspects of Goodpasture syndrome. (22218111)
2012
11
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
12
Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia. (26069804)
2012
13
A case of Goodpasture syndrome positive for anti-GBM antibody and MPO-ANCA complicated by a variety of serious infections. (21426895)
2011
14
Epidemiology and etiology of wegener granulomatosis, microscopic polyangiitis, churg-strauss syndrome and goodpasture syndrome: vasculitides with frequent lung involvement. (21674413)
2011
15
Plasma exchange for Goodpasture syndrome. (20117054)
2010
16
Goodpasture's 1919 article on the etiology of influenza-the historical road to what we now call Goodpasture Syndrome. (19680022)
2009
17
Migratory pulmonary infiltrates. Goodpasture syndrome. (19124794)
2009
18
Patient with antibody-negative relapse of Goodpasture syndrome. (17474560)
2007
19
Anti-glomerular basement membrane antibodies in the diagnosis of Goodpasture syndrome: a comparison of different assays. (16234289)
2006
20
Zebrafish to humans: evolution of the alpha3-chain of type IV collagen and emergence of the autoimmune epitopes associated with Goodpasture syndrome. (16254142)
2006
21
Goodpasture syndrome in a pregnant woman. (16260570)
2005
22
Goodpasture syndrome. (16183752)
2005
23
Pathogenesis of Goodpasture syndrome: a molecular perspective. (14631560)
2003
24
Goodpasture syndrome during the course of a SchAPnlein-Henoch purpura. (11979333)
2002
25
Renal fibroblast-like cells in Goodpasture syndrome rats. (11473642)
2001
26
Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses renal injury in mouse Goodpasture syndrome. (11418463)
2001
27
Goodpasture syndrome: pathophysiology, diagnosis, and management. (12143452)
2001
28
Goodpasture syndrome. (15912919)
2000
29
Reactive oxygen species expose cryptic epitopes associated with autoimmune goodpasture syndrome. (10748075)
2000
30
Inhibition of monocyte chemoattractant protein-1 expression in tubular epithelium attenuates tubulointerstitial alteration in rat Goodpasture syndrome. (10720946)
2000
31
Goodpasture syndrome. (10027952)
1999
32
Complete recovery of renal function in a dialysis-dependent patient with Goodpasture syndrome. (9509464)
1998
33
Goodpasture syndrome and end-stage renal failure--to transplant or not to transplant? (9641155)
1998
34
Goodpasture syndrome involving overlap with Wegener's granulomatosis and anti-glomerular basement membrane disease. (9355084)
1997
35
Anti-GBM antibodies in Goodpasture syndrome; anatomy of an epitope. (9140985)
1997
36
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
37
Anti-alpha1(IV) collagen autoantibodies associated with lung adenocarcinoma presenting as the Goodpasture syndrome. (8607593)
1996
38
Pregnancy in a patient with Goodpasture syndrome and renal transplantation. (8672189)
1996
39
Specificity of circulating and tissue-bound autoantibodies in Goodpasture syndrome. (8705733)
1996
40
Goodpasture syndrome: selective removal of anti-alpha 3 (IV) collagen autoantibodies. A potential therapeutic alternative to plasmapheresis. (8864724)
1996
41
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
42
Identification of the alpha 3 chain of type IV collagen as the common autoantigen in antibasement membrane disease and Goodpasture syndrome. (8589284)
1995
43
The alpha 3 chain of type IV collagen induces autoimmune Goodpasture syndrome. (8016138)
1994
44
Anti-type IV collagen antibodies in Goodpasture syndrome. (8004967)
1994
45
Goodpasture syndrome: molecular and clinical advances. (8041241)
1994
46
Provocation of pulmonary haemorrhage in Goodpasture syndrome by chlorine gas. (8384347)
1993
47
Pregnancy complicated by Goodpasture syndrome. (1565371)
1992
48
Isolated pulmonary Goodpasture syndrome. (1946080)
1991
49
Goodpasture syndrome. Localization of the epitope for the autoantibodies to the carboxyl-terminal region of the alpha 3(IV) chain of basement membrane collagen. (1721062)
1991
50
Goodpasture syndrome: molecular architecture and function of basement membrane antigen. (2671489)
1989

Variations for Goodpasture Syndrome

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Expression for genes affiliated with Goodpasture Syndrome

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Search GEO for disease gene expression data for Goodpasture Syndrome.

Pathways for genes affiliated with Goodpasture Syndrome

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

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.1COL4A3, COL4A4, COL4A5
2
Show member pathways
9.1COL4A3, COL4A4, COL4A5
3
Show member pathways
9.1COL4A3, COL4A4, COL4A5
49.1COL4A3, COL4A4, COL4A5
5
Show member pathways
9.1COL4A3, COL4A4, COL4A5
69.1COL4A3, COL4A4, COL4A5
79.1COL4A3, COL4A4, COL4A5
89.1COL4A3, COL4A4, COL4A5
99.1COL4A3, COL4A4, COL4A5
109.1COL4A3, COL4A4, COL4A5
119.1COL4A3, COL4A4, COL4A5
129.1COL4A3, COL4A4, COL4A5
138.6COL4A3, COL4A4, COL4A5, NID1
14
Show member pathways
8.6COL4A3, COL4A4, COL4A5, NID1
15
Show member pathways
8.3CD79A, COL4A3, COL4A4, COL4A5

GO Terms for genes affiliated with Goodpasture Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IV trimerGO:00055879.7COL4A3, COL4A4, COL4A5
2basal laminaGO:00056059.6COL4A4, COL4A5, NID1
3basement membraneGO:00056049.2COL4A3, COL4A4, COL4A5, NID1
4endoplasmic reticulum lumenGO:00057889.1COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.7COL4A3, COL4A4, COL4A5
2glomerular basement membrane developmentGO:00328369.2COL4A3, COL4A4, NID1
3extracellular matrix organizationGO:00301988.9COL4A3, COL4A4, COL4A5, NID1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.1COL4A3, COL4A4, COL4A5

Sources for Goodpasture Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet