MCID: BSM001
MIFTS: 36

Basement Membrane Disease

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Basement Membrane Disease

MalaCards integrated aliases for Basement Membrane Disease:

Name: Basement Membrane Disease 59

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA93550

Summaries for Basement Membrane Disease

MalaCards based summary : Basement Membrane Disease is related to goodpasture syndrome and hematuria, benign familial. An important gene associated with Basement Membrane Disease is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. The drugs Immunoglobulin G and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and neutrophil, and related phenotypes are immune system and renal/urinary system

Related Diseases for Basement Membrane Disease

Diseases related to Basement Membrane Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 goodpasture syndrome 33.7 COL4A5 COL4A4 COL4A3
2 hematuria, benign familial 33.3 COL4A5 COL4A4 COL4A3
3 glomerulonephritis 31.2 COL4A5 COL4A4 COL4A3
4 focal segmental glomerulosclerosis 29.9 COL4A5 COL4A4 COL4A3
5 anca-associated vasculitis 29.9 HLA-DRB1 ANGPT2
6 anti-basement membrane glomerulonephritis 29.9 COL4A5 COL4A4 COL4A3
7 systemic lupus erythematosus 28.0 TNFSF13B TNFSF13 HLA-DRB1 C1QA
8 collagen-related glomerular basement membrane disease 12.5
9 alport syndrome 11.8
10 nail-patella-like renal disease 11.5
11 salcedo syndrome 11.5
12 rapidly progressive glomerulonephritis 10.5
13 crescentic glomerulonephritis 10.5
14 iga glomerulonephritis 10.5
15 autoimmune disease 10.4
16 end stage renal failure 10.4
17 membranous nephropathy 10.3
18 interstitial nephritis 10.3
19 nephrotic syndrome 10.3
20 acute kidney failure 10.3
21 vasculitis 10.3
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
23 malignant cylindroma 10.2 COL4A5 COL4A1
24 membranoproliferative glomerulonephritis 10.1
25 kidney disease 10.1
26 autoimmune glomerulonephritis 10.0
27 autosomal recessive alport syndrome 10.0
28 x-linked alport syndrome 10.0
29 proliferative glomerulonephritis 10.0
30 leiomyomatosis 10.0 COL4A5 COL4A4 COL4A3
31 branchiootic syndrome 1 10.0
32 thrombotic thrombocytopenic purpura 10.0
33 lipoid nephrosis 10.0
34 acute kidney tubular necrosis 10.0
35 hypothyroidism 10.0
36 thrombocytopenia 10.0
37 agammaglobulinemia 10.0
38 anuria 10.0
39 purpura 10.0
40 uremia 10.0
41 immune-complex glomerulonephritis 10.0
42 chronic kidney disease 10.0
43 amyloidosis 10.0
44 hypertensive encephalopathy 10.0
45 fibrillary glomerulonephritis 10.0
46 systemic autoimmune disease 10.0
47 glomerular disease 10.0
48 corneal dystrophy, posterior polymorphous, 3 9.9 COL4A4 COL4A3 COL4A1
49 multiple sclerosis 9.8
50 thrombophilia due to thrombin defect 9.8

Graphical network of the top 20 diseases related to Basement Membrane Disease:



Diseases related to Basement Membrane Disease

Symptoms & Phenotypes for Basement Membrane Disease

MGI Mouse Phenotypes related to Basement Membrane Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.76 ANGPT2 C1QA COL4A1 COL4A3 COL4A4 COL4A5
2 renal/urinary system MP:0005367 9.35 C1QA COL4A1 COL4A3 COL4A4 COL4A5
3 vision/eye MP:0005391 9.02 ANGPT2 COL4A1 COL4A3 COL4A4 COL4A5

Drugs & Therapeutics for Basement Membrane Disease

Drugs for Basement Membrane Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin G Phase 2
2
Sodium citrate Approved, Investigational 68-04-2
3
Ramipril Approved 87333-19-5 5362129
4
Spironolactone Approved 1952-01-7, 52-01-7 5833
5
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
6
Calcium Approved, Nutraceutical 7440-70-2 271
7 Citrate
8 Hemostatics
9 Pharmaceutical Solutions
10 Coagulants
11 Chelating Agents
12 Anticoagulants
13 Calcium, Dietary
14 diuretics
15 HIV Protease Inhibitors
16 Diuretics, Potassium Sparing
17 Natriuretic Agents
18 Hormones
19
protease inhibitors
20 Mineralocorticoid Receptor Antagonists
21 Hormone Antagonists
22 Angiotensin-Converting Enzyme Inhibitors
23 Mineralocorticoids
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors
25 Hormones, Hormone Substitutes, and Hormone Antagonists
26 Antibodies
27 Immunologic Factors
28 Immunoglobulins
29 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label Phase II Study in Anti-GBM Disease (Goodpasture's Disease) With Adverse Renal Prognosis to Evaluate the Efficacy and Safety of IdeS --GOOD-IDES Unknown status NCT03157037 Phase 2
2 A Prospective Interventional Study to Investigate Changes in Haemostasis After Therapeutic Plasmapheresis With Citrate Anticoagulation With or Without Coagulation Factors Replacement Recruiting NCT03801135 Fibrinogen concentrate
3 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome: Current and Novel Therapies Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol
4 Detection of Anti-glomerular Basement Membrane Antibodies (Anti-GBM): a Promising Biomarker for Lupus Nephritis (LN) Screening in Systemic Lupus Erythematosus (SLE) Patients? Recruiting NCT03664908
5 Comparison of ANCA and Anti-GBM Auto-antibodies Removal Kinetics Between Plasma Exchanges and Immunoadsorption in Patients With ANCA-associated Vasculitis or Anti-GBM Disease Not yet recruiting NCT03635385

Search NIH Clinical Center for Basement Membrane Disease

Genetic Tests for Basement Membrane Disease

Anatomical Context for Basement Membrane Disease

MalaCards organs/tissues related to Basement Membrane Disease:

41
Kidney, T Cells, Neutrophil, Lung, Spleen, Endothelial, B Cells

Publications for Basement Membrane Disease

Articles related to Basement Membrane Disease:

(show top 50) (show all 431)
# Title Authors PMID Year
1
Recurrent anti-GBM disease with T-cell large granular lymphocytic leukemia: A case report. 38
31374037 2019
2
Contribution of Electron Microscopy to the Clinicopathologic Diagnosis in Childhood Glomerular Renal Diseases. 38
30942128 2019
3
Odd combinations-coexistence of anti-glomerular basement membrane disease and Sjögren's syndrome. 38
31170292 2019
4
Therapeutic apheresis in neurological, nephrological and gastrointestinal diseases. 38
31029610 2019
5
Acute Thrombotic Microangiopathy and Cortical Necrosis Following Administration of Alemtuzumab: A Case Report. 38
30528935 2019
6
Anti-glomerular basement membrane disease due to monoclonal IgG Lambda antibodies: a very rare case of monoclonal gammopathy of renal significance. 38
30302532 2019
7
Rituximab for Anti-Glomerular Basement Membrane Disease. 38
30993238 2019
8
Chemokine Receptor 8 Can Distinguish Antineutrophil Cytoplasmic Antibody-Associated Vasculitis From Infectious Complications. 38
30899872 2019
9
A Case of Anti-glomerular Basement Disease Without Pulmonary Involvement. 38
31058013 2019
10
Nutcracker Syndrome with the Superimposition of Thin Basement Membrane Syndrome. 38
30210125 2019
11
Binding Truths: Atypical Anti-Glomerular Basement Membrane Disease Mediated by IgA Anti-Glomerular Basement Membrane Antibodies Targeting the α1 Chain of Type IV Collagen. 38
30596180 2019
12
Bilateral giant macular holes: A rare manifestation of Alport syndrome. 38
29873249 2019
13
End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency. 38
30838168 2019
14
Clinicopathological features and outcome of antibody-negative anti-glomerular basement membrane disease. 38
30315136 2019
15
Prognostic Factors in Anti-glomerular Basement Membrane Disease: A Multicenter Study of 119 Patients. 38
31396214 2019
16
Extracellular traps in kidney disease. 38
30466565 2018
17
Acute kidney injury due to thin basement membrane disease mimicking Deferasirox nephrotoxicity: a case report. 38
30558557 2018
18
Properdin binds independent of complement activation in an in vivo model of anti-glomerular basement membrane disease. 38
30322716 2018
19
Anti-Glomerular Basement Membrane Disease. 38
30274629 2018
20
Anti-glomerular basement membrane disease: an update on subgroups, pathogenesis and therapies. 38
30371823 2018
21
Reversal of Dialysis-Dependent Anti-Glomerular Basement Membrane Disease Using Plasma Exchange, Glucocorticosteroids, and Rituximab. 38
30197991 2018
22
Use of rituximab as an induction therapy in anti-glomerular basement-membrane disease. 38
30236081 2018
23
Pulmonary vasculitis. 38
30416807 2018
24
Alveolar Hemorrhage in Vasculitis (Primary and Secondary). 38
30404115 2018
25
Renal, auricular, and ocular outcomes of Alport syndrome and their current management. 38
28864840 2018
26
Antiglomerular Basement Membrane Disease. 38
30404116 2018
27
Treatment of Pulmonary Vasculitis. 38
30404117 2018
28
Atypical Noncrescentic Antiglomerular Basement Membrane Disease With Concurrent Thin Basement Membrane Nephropathy. 38
29989074 2018
29
Successful use of rituximab in glomerular basement membrane nephritis associated with HIV interstitial nephritis secondary to Castleman disease
. 38
29424337 2018
30
Proliferative glomerulonephritis with linear immunoglobulin deposition: is this atypical antiglomerular basement membrane disease? 38
29724870 2018
31
The role of the immune system in kidney disease. 38
29453850 2018
32
Fever and prodromal infections in anti-glomerular basement membrane disease. 38
28261931 2018
33
IgA-mediated anti-glomerular basement membrane disease. A case report. 38
28735878 2018
34
T cell responses to peptides of Goodpasture autoantigen in patients with anti-glomerular basement membrane disease. 38
28152559 2018
35
18F-FDG PET/CT Imaging of Necrotizing Crescentic Glomerulonephritis With Anti-Glomerular Basement Membrane Disease. 38
29293138 2018
36
Apheresis to treat systemic vasculitis. 38
28602810 2018
37
Diagnostic and management challenges in Goodpasture's (anti-glomerular basement membrane) disease. 38
28459999 2018
38
The Respiratory System in Autoimmune Vascular Diseases. 38
29975964 2018
39
Membranous nephropathy followed by anti-glomerular basement disease: A case report and review of clinical presentation and treatment. 38
30364512 2018
40
Rapidly progressive glomerulonephritis due to anti-glomerular basement membrane disease accompanied by IgA nephropathy: An unusual association. 38
29265054 2017
41
Familial antiglomerular basement membrane disease in zero human leukocyte antigen mismatch siblings
. 38
28853702 2017
42
Histopathologic Findings of Potential Kidney Donors With Asymptomatic Microscopic Hematuria: Impact on Donation. 38
28923616 2017
43
ANCA in anti-GBM disease: moving beyond a one-dimensional clinical phenotype. 38
28807260 2017
44
Immunoadsorption in Autoimmune Diseases Affecting the Kidney. 38
28863794 2017
45
A "Mini-Epidemic" of anti-glomerular basement membrane disease: Clinical and epidemiological study. 38
28937063 2017
46
Therapeutic Mechanism of Glucocorticoids on Cellular Crescent Formation in Patients With Antiglomerular Basement Membrane Disease. 38
28864372 2017
47
Anti-Glomerular Basement Membrane Disease. 38
28515156 2017
48
Anti-glomerular basement membrane disease accompanied by systemic lupus erythematosus presenting central nervous system involvement. 38
28509118 2017
49
Anti-glomerular basement membrane disease: Case series from a tertiary center in North India. 38
28356661 2017
50
Plasma from patients with anti-glomerular basement membrane disease could recognize microbial peptides. 38
28410377 2017

Variations for Basement Membrane Disease

Expression for Basement Membrane Disease

Search GEO for disease gene expression data for Basement Membrane Disease.

Pathways for Basement Membrane Disease

Pathways related to Basement Membrane Disease according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 TNFSF13B TNFSF13 COL4A5 COL4A4 COL4A3 COL4A1
2
Show member pathways
12.81 COL4A5 COL4A4 COL4A3 COL4A1
3
Show member pathways
12.78 COL4A5 COL4A4 COL4A3 COL4A1
4
Show member pathways
12.78 COL4A5 COL4A4 COL4A3 COL4A1
5
Show member pathways
12.73 COL4A5 COL4A4 COL4A3 COL4A1 ANGPT2
6
Show member pathways
12.67 COL4A5 COL4A4 COL4A3 COL4A1
7 12.6 COL4A5 COL4A4 COL4A3 COL4A1
8
Show member pathways
12.59 COL4A5 COL4A4 COL4A3 COL4A1
9
Show member pathways
12.5 COL4A5 COL4A4 COL4A3 COL4A1
10
Show member pathways
12.39 COL4A5 COL4A4 COL4A3 COL4A1
11
Show member pathways
12 COL4A5 COL4A4 COL4A3 COL4A1
12
Show member pathways
11.95 COL4A5 COL4A4 COL4A3 COL4A1
13 11.78 TNFSF13B TNFSF13 COL4A1
14 11.73 COL4A5 COL4A4 COL4A3 COL4A1
15 11.71 COL4A5 COL4A4 COL4A3 COL4A1
16 11.65 TNFSF13B TNFSF13 HLA-DRB1
17 11.63 COL4A5 COL4A4 COL4A3 COL4A1
18 11.61 HLA-DRB1 C1QA
19 11.52 COL4A5 COL4A4 COL4A3
20
Show member pathways
11.5 TNFSF13B TNFSF13
21 11.41 COL4A5 COL4A4 COL4A3 COL4A1
22 11.25 COL4A5 COL4A4 COL4A3 COL4A1
23 11.08 TNFSF13B TNFSF13
24 11.06 COL4A5 COL4A4 COL4A3 COL4A1
25 10.99 TNFSF13B TNFSF13 ANGPT2
26 10.82 COL4A5 COL4A4 COL4A3 COL4A1
27 10.07 TNFSF13B TNFSF13 COL4A5 COL4A4 COL4A3 COL4A1

GO Terms for Basement Membrane Disease

Cellular components related to Basement Membrane Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.87 TNFSF13B TNFSF13 COL4A5 COL4A4 COL4A3 COL4A1
2 extracellular region GO:0005576 9.86 TNFSF13B TNFSF13 COL4A5 COL4A4 COL4A3 COL4A1
3 extracellular matrix GO:0031012 9.73 COL4A5 COL4A4 COL4A3 COL4A1
4 endoplasmic reticulum lumen GO:0005788 9.71 COL4A5 COL4A4 COL4A3 COL4A1
5 collagen-containing extracellular matrix GO:0062023 9.67 COL4A5 COL4A3 COL4A1 C1QA
6 basement membrane GO:0005604 9.46 COL4A5 COL4A4 COL4A3 COL4A1
7 collagen trimer GO:0005581 9.35 COL4A5 COL4A4 COL4A3 COL4A1 C1QA
8 collagen type IV trimer GO:0005587 8.92 COL4A5 COL4A4 COL4A3 COL4A1

Biological processes related to Basement Membrane Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.37 TNFSF13B TNFSF13
2 neuromuscular junction development GO:0007528 9.32 COL4A5 COL4A1
3 blood vessel morphogenesis GO:0048514 9.26 COL4A1 ANGPT2
4 extracellular matrix organization GO:0030198 9.26 COL4A5 COL4A4 COL4A3 COL4A1
5 glomerular basement membrane development GO:0032836 9.16 COL4A4 COL4A3
6 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.8 COL4A5 COL4A3 COL4A1

Molecular functions related to Basement Membrane Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 9.16 TNFSF13B TNFSF13
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL4A5 COL4A3 COL4A1
3 extracellular matrix structural constituent GO:0005201 8.92 COL4A5 COL4A4 COL4A3 COL4A1

Sources for Basement Membrane Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....