DDD
MCID: DNS007
MIFTS: 36

Dense Deposit Disease (DDD)

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Dense Deposit Disease

MalaCards integrated aliases for Dense Deposit Disease:

Name: Dense Deposit Disease 20
Mesangiocapillary Glomerulonephritis, Type Ii 29 6
Membranoproliferative Glomerulonephritis, Type Ii 70
Membranoproliferative Glomerulonephritis Type Ii 20
Glomerulonephritis Membranoproliferative Type 2 20
Membranoproliferative Glomerulonephritis Type 2 20
Mesangiocapillary Glomerulonephritis Type 2 20
Mpgn 2 20
Ddd 20

Classifications:



External Ids:

UMLS 70 C0268743

Summaries for Dense Deposit Disease

GARD : 20 Dense deposit disease (DDD) is a condition that primarily affects kidney function. Signs and symptoms usually start between the ages of 5 and 15 but may also begin in adulthood. The major features of DDD are due to kidney malfunction, and often include proteinuria ; hematuria ; reduced amounts of urine; low levels of protein in the blood; and swelling in many areas of the body. About half of affected people develop end-stage renal disease (ESRD) within 10 years after symptoms start. DDD can have genetic or non-genetic causes. It can be caused by mutations in the C3 and CFH genes ; it may develop as a result of both genetic risk factors and environmental triggers; or it can result from the presence of autoantibodies that block the activity of proteins needed for the body's immune response. Most cases are sporadic (occurring by chance in people with no history of the disorder in their family).

MalaCards based summary : Dense Deposit Disease, also known as mesangiocapillary glomerulonephritis, type ii, is related to glomerulonephritis and c3 glomerulopathy. An important gene associated with Dense Deposit Disease is DGKE (Diacylglycerol Kinase Epsilon), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. The drugs Immunoglobulin A and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and eye.

Wikipedia : 73 Membranoproliferative glomerulonephritis (MPGN) is a type of glomerulonephritis caused by deposits in... more...

Related Diseases for Dense Deposit Disease

Diseases related to Dense Deposit Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 glomerulonephritis 31.2 CFHR5 CFH C3
2 c3 glomerulopathy 31.1 DGKE CFHR5 CFHR2 CFH CFB C3
3 proliferative glomerulonephritis 30.8 CFH C3
4 end stage renal disease 30.5 CFHR5 CFH C3
5 membranoproliferative glomerulonephritis 30.4 DGKE CFHR5 CFHR2 CFH CFB C3
6 basal laminar drusen 30.2 CFH CFB
7 malignant hypertension 30.2 CFHR2 CFH
8 meningococcal meningitis 30.2 CFHR2 CFH
9 complement component 3 deficiency 29.8 CFHR2 CFH C3
10 acute poststreptococcal glomerulonephritis 29.5 CFHR5 CFHR2 C5 C3
11 genetic atypical hemolytic-uremic syndrome 29.2 DGKE CFHR5 CFH CFB C3
12 retinal drusen 29.2 CFHR2 CFH CFB C3
13 macular degeneration, age-related, 1 28.8 CFHR5 CFHR2 CFH CFB C5 C3
14 systemic lupus erythematosus 28.5 CFHR2 CFB C5 C3
15 hemolytic-uremic syndrome 27.9 DGKE CFHR5 CFHR2 CFH CFB C5
16 hemolytic uremic syndrome, atypical 1 27.9 DGKE CFHR5 CFHR2 CFH CFB C5
17 complement factor h deficiency 11.6
18 dowling-degos disease 1 11.4
19 dowling-degos disease 2 11.1
20 dowling-degos disease 11.0
21 acne inversa, familial, 2, with or without dowling-degos disease 10.9
22 degenerative disc disease 10.9
23 atrioventricular block 10.7
24 proteinuria, chronic benign 10.7
25 nephrotic syndrome 10.6
26 sick sinus syndrome 10.6
27 adrenal cortical carcinoma 10.5
28 adrenocortical carcinoma, hereditary 10.4
29 adrenal cortical adenocarcinoma 10.4
30 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4
31 acute kidney failure 10.4
32 atrial standstill 1 10.3
33 glomerulopathy with fibronectin deposits 2 10.3
34 fibrillary glomerulonephritis 10.3
35 immunotactoid glomerulopathy 10.3
36 immunotactoid or fibrillary glomerulopathy 10.3
37 collagen type iii glomerulopathy 10.3
38 syncope 10.3
39 crescentic glomerulonephritis 10.2
40 kidney disease 10.2
41 adrenal carcinoma 10.2
42 sinoatrial node disease 10.2
43 hypertrophic cardiomyopathy 10.2
44 mitral valve insufficiency 10.2
45 myeloma, multiple 10.2
46 membranous nephropathy 10.2
47 monoclonal gammopathy of uncertain significance 10.2
48 glomerular disease 10.2
49 progressive familial heart block, type ia 10.1
50 hydronephrosis 10.1

Graphical network of the top 20 diseases related to Dense Deposit Disease:



Diseases related to Dense Deposit Disease

Symptoms & Phenotypes for Dense Deposit Disease

Drugs & Therapeutics for Dense Deposit Disease

Drugs for Dense Deposit Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin A Phase 2
2
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
3 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1
4 Angiotensin-Converting Enzyme Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double Blind, Placebo Controlled Phase 2 Study to Evaluate the Safety and Efficacy of Avacopan (CCX168) in Patients With C3 Glomerulopathy Recruiting NCT03301467 Phase 2 Avacopan;Avacopan Matching Placebo
2 A Phase 2 Study to Evaluate the Safety and Effect on Proteinuria of OMS721 in Subjects With IgA Nephropathy, Lupus Nephritis, Membranous Nephropathy, or C3 Glomerulopathy Including Dense Deposit Disease Recruiting NCT02682407 Phase 2
3 A Phase 2 Study to Evaluate the Safety and Biologic Activity of APL- 2 in Patients With IgA Nephropathy, Lupus Nephritis, Primary Membranous Nephropathy, or C3 Glomerulopathy (C3 Glomerulonephritis and Dense Deposit Disease) Active, not recruiting NCT03453619 Phase 2 APL-2
4 Eculizumab Therapy for Dense Deposit Disease and C3 Nephropathy Completed NCT01221181 Phase 1 Eculizumab
5 A Pilot, Open-label, Multicenter Clinical Trial of CDX-1135 in Pediatric and Adult Patients With Dense Deposit Disease Terminated NCT01791686 Phase 1 CDX-1135
6 Sulodexide Treatment in Patients With Dense Deposit Disease Withdrawn NCT00583427 Phase 1 Sulodexide
7 A Pilot, Open-Label Single Center Trial of TP10 in Pediatric and Adult Patients With C3 Glomerulopathy (C3G) Withdrawn NCT02302755 Phase 1 TP10

Search NIH Clinical Center for Dense Deposit Disease

Genetic Tests for Dense Deposit Disease

Genetic tests related to Dense Deposit Disease:

# Genetic test Affiliating Genes
1 Mesangiocapillary Glomerulonephritis, Type Ii 29 DGKE

Anatomical Context for Dense Deposit Disease

MalaCards organs/tissues related to Dense Deposit Disease:

40
Kidney, Heart, Eye, Retina, Endothelial, Brain

Publications for Dense Deposit Disease

Articles related to Dense Deposit Disease:

(show top 50) (show all 294)
# Title Authors PMID Year
1
Longitudinal change in proteinuria and kidney outcomes in C3 glomerulopathy. 61
33779754 2021
2
Therapy and outcomes of C3 glomerulopathy and immune-complex membranoproliferative glomerulonephritis. 61
32886193 2021
3
Pediatric C3 glomerulopathy: a 12-year single-center experience. 61
33000324 2021
4
Poor allograft outcome in Indian patients with post-transplant C3 glomerulopathy. 61
33564431 2021
5
Validation of a Histologic Scoring Index for C3 Glomerulopathy. 61
33359150 2020
6
Partial lipoatrophy in dense deposit disease. 61
33126987 2020
7
Treatment of C3 Glomerulopathy in Adult Kidney Transplant Recipients: A Systematic Review. 61
33096866 2020
8
Mycophenolate Mofetil in C3 Glomerulopathy and Pathogenic Drivers of the Disease. 61
32816888 2020
9
Treatment-resistant nephrotic syndrome in dense deposit disease: complement-mediated glomerular capillary wall injury? 61
32447506 2020
10
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases. 61
32820208 2020
11
Drusen in dense deposit disease: not just age-related macular degeneration. 61
32473679 2020
12
Utility of immunohistochemistry with C3d in C3 glomerulopathy. 61
31477814 2020
13
C3 Glomerulopathy: Pathogenesis and Treatment. 61
32553242 2020
14
Aliskiren and the dual complement inhibition concept. 61
32083617 2020
15
Clinicopathological Significance and Renal Outcomes of Light Microscopic Patterns in Complement Component 3 Glomerulopathy. 61
32155638 2020
16
Clinicopathological features of C3 glomerulopathy in children: a single-center experience. 61
31667615 2020
17
Diverse Clinical Presentations of C3 Dominant Glomerulonephritis. 61
32695788 2020
18
A Narrative Review on C3 Glomerulopathy: A Rare Renal Disease. 61
31947692 2020
19
Function and Dysfunction of Complement Factor H During Formation of Lipid-Rich Deposits. 61
33363547 2020
20
Eculizumab for pediatric dense deposit disease: A case report and literature review. 61
33329990 2020
21
Complement dysregulation in glomerulonephritis. 61
31711769 2019
22
Contribution of Electron Microscopy to the Clinicopathologic Diagnosis in Childhood Glomerular Renal Diseases. 61
30942128 2019
23
Dense deposit disease: a greatly increased biopsy incidence in India versus the USA. 61
31384437 2019
24
Glomerular C4d Staining Does Not Exclude a C3 Glomerulopathy. 61
31080925 2019
25
C3 glomerulopathy - understanding a rare complement-driven renal disease. 61
30692664 2019
26
Kidney Transplantation in C3 Glomerulopathy: A Case Series. 61
30413277 2019
27
Treatment with bortezomib in dense deposit disease associated with monoclonal gammopathy of undetermined significance. 61
29363742 2019
28
Absence of complement factor H alters bone architecture and dynamics. 61
30107932 2018
29
C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab. 61
29370420 2018
30
Genetic analysis of the complement pathway in C3 glomerulopathy. 61
29566171 2018
31
Aliskiren inhibits renin-mediated complement activation. 61
29884545 2018
32
A novel role of renin inhibitor in the complement cascade. 61
30243307 2018
33
A long history of dense deposit disease. 61
30255792 2018
34
A large, international study on post-transplant glomerular diseases: the TANGO project. 61
30208881 2018
35
Dominant C3 glomerulopathy: new roles for an old actor in renal pathology. 61
29151252 2018
36
Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series. 61
30094012 2018
37
Retinal Basal Laminar Deposits in Complement fH/fP Mouse Model of Dense Deposit Disease. 61
30025090 2018
38
Cloudy Cornea with Arcus Juvenilis in a Case of Dense Deposit Disease. 61
29950499 2018
39
Favorable effect of bortezomib in dense deposit disease associated with monoclonal gammopathy: a case report. 61
29724182 2018
40
Renal and Pulmonary Dense Deposit Disease Presenting as Pulmonary-Renal Syndrome. 61
29854987 2018
41
C3 glomerulonephritis and dense deposit disease share a similar disease course in a large United States cohort of patients with C3 glomerulopathy. 61
29310824 2018
42
Dense deposit disease associated with multiple myeloma
. 61
29208205 2018
43
Dense Deposit Disease Involving C3 and C4d Deposits. 61
29515303 2018
44
Treating C3 glomerulopathy with eculizumab. 61
29329521 2018
45
De novo glomerular diseases after renal transplantation: How is it different from recurrent glomerular diseases? 61
29312858 2017
46
Kidney Diseases Associated With Alternative Complement Pathway Dysregulation and Potential Treatment Options. 61
29208248 2017
47
Autoantibodies against complement components in systemic lupus erythematosus - role in the pathogenesis and clinical manifestations. 61
29092674 2017
48
C4 Nephritic Factors in C3 Glomerulopathy: A Case Series. 61
28838767 2017
49
C5 nephritic factors drive the biological phenotype of C3 glomerulopathies. 61
28712854 2017
50
A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy. 61
28729035 2017

Variations for Dense Deposit Disease

ClinVar genetic disease variations for Dense Deposit Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFH NM_000186.3(CFH):c.428-3C>T SNV Uncertain significance 294485 rs886045744 GRCh37: 1:196646603-196646603
GRCh38: 1:196677473-196677473
2 CFHR5 NM_030787.3(CFHR5):c.*426_*427delGA Microsatellite Uncertain significance 294557 rs886045755 GRCh37: 1:196978228-196978229
GRCh38: 1:197009098-197009099
3 CFHR5 NM_030787.3(CFHR5):c.-76_-75del Deletion Uncertain significance 294530 rs551454946 GRCh37: 1:196946718-196946719
GRCh38: 1:196977588-196977589
4 CFHR5 NM_030787.3(CFHR5):c.485_486dup (p.Glu163fs) Duplication Likely benign 294541 rs565457964 GRCh37: 1:196963258-196963259
GRCh38: 1:196994128-196994129

Expression for Dense Deposit Disease

Search GEO for disease gene expression data for Dense Deposit Disease.

Pathways for Dense Deposit Disease

Pathways related to Dense Deposit Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 CFH CFB C5 C3
2
Show member pathways
11.62 CFH CFB C5 C3
3
Show member pathways
11.41 CFB C5 C3
4 11.26 CFHR5 CFHR2 CFH CFB C5 C3
5 11.25 C5 C3
6 11.24 CFH CFB C5 C3

GO Terms for Dense Deposit Disease

Cellular components related to Dense Deposit Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.13 CFH CFB C3
2 extracellular region GO:0005576 9.1 CFHR5 CFHR2 CFH CFB C5 C3

Biological processes related to Dense Deposit Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.71 CFH CFB C5 C3
2 innate immune response GO:0045087 9.62 CFH CFB C5 C3
3 complement activation GO:0006956 9.46 CFH CFB C5 C3
4 negative regulation of protein binding GO:0032091 9.43 CFHR5 CFHR2
5 regulation of complement activation GO:0030449 9.43 CFHR5 CFHR2 CFH CFB C5 C3
6 positive regulation of vascular endothelial growth factor production GO:0010575 9.37 C5 C3
7 cytolysis by host of symbiont cells GO:0051838 9.26 CFHR5 CFHR2
8 complement activation, alternative pathway GO:0006957 9.02 CFHR5 CFH CFB C5 C3

Molecular functions related to Dense Deposit Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase inhibitor activity GO:0004866 8.62 C5 C3

Sources for Dense Deposit Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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