MCID: DNS007
MIFTS: 42

Dense Deposit Disease malady

Rare diseases, Nephrological diseases categories

Summaries for Dense Deposit Disease

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NIH Rare Diseases:41 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). last updated: 12/15/2014

MalaCards based summary: Dense Deposit Disease, also known as membranoproliferative glomerulonephritis type ii, is related to complement factor h deficiency and dense deposit disease/membranoproliferative glomerulonephritis type ii. An important gene associated with Dense Deposit Disease is CFH (complement factor H), and among its related pathways are Pertussis and Phagocytosis of Microbes. The compounds anaphylatoxin and formate have been mentioned in the context of this disorder. Affiliated tissues include kidney and breast, and related mouse phenotypes are other and normal.

Genetics Home Reference:21 Dense deposit disease is a condition that primarily affects kidney (renal) function. The signs and symptoms usually appear between the ages of 5 and 15, although they can also begin in adulthood.

Wikipedia:63 Membranoproliferative glomerulonephritis (\"MPGN\"), also known as mesangiocapillary glomerulonephritis,... more...

Aliases & Classifications for Dense Deposit Disease

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Dense Deposit Disease, Aliases & Descriptions:

Name: Dense Deposit Disease 41 21 47
Membranoproliferative Glomerulonephritis Type Ii 41 21
Membranoproliferative Glomerulonephritis Type 2 41 47
Mesangiocapillary Glomerulonephritis Type 2 41 22
Ddd 41 21
Membranoproliferative Glomerulonephritis, Type Ii 60
 
Glomerulonephritis Membranoproliferative Type 2 41
Type Ii Mpgn 21
Ddd/mpgnii 21
Mpgnii 21
Mpgn 2 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Nephrological diseases
Orphanet: 47 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

47
dense deposit disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Orphanet47 93571
MESH via Orphanet34 D015432
UMLS via Orphanet61 C0268743

Related Diseases for Dense Deposit Disease

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1complement factor h deficiency31.2CFH
2dense deposit disease/membranoproliferative glomerulonephritis type ii31.2CFH, CFHR5
3glomerulonephritis31.1C3, CFH, VTN
4membranoproliferative glomerulonephritis31.0VTN, C3, CFH
5nephrotic syndrome30.1APOE, VTN
6atherosclerosis29.8C3, VTN, APOE
7retinitis10.5
8retinal drusen10.5CFH
9nephropathy due to cfhr5 deficiency10.5CFHR5
10cfhr5-related dense deposit disease / membranoproliferative glomerulonephritis type ii10.4
11dowling-degos disease 110.4
12dowling-degos disease 210.4
13cfh-related dense deposit disease / membranoproliferative glomerulonephritis type ii10.4
14familial partial lipodystrophy10.3
15hemolytic uremic syndrome, atypical 110.3CFH, CFB
16pick disease10.3
17hepatitis10.3
18niemann-pick disease10.3
19hepatitis c10.3
20cryoglobulinemia10.3
21choroiditis10.3
22lipodystrophy10.3
23dyschromatosis symmetrica hereditaria10.3
24reticulate acropigmentation of kitamura10.3
25adrenocortical carcinoma10.3
26crescentic glomerulonephritis10.3
27sick sinus syndrome10.2
28lyme disease10.2CFH, CFHR1
29complement deficiency10.2C3, C5
30macular degeneration, age-related, 110.2CFH, APOE
31lupus nephritis10.2CFB, VTN
32degenerative disc disease10.1
33adrenal carcinoma10.1
34glomerulopathy with fibronectin deposits 210.1
35amyloidosis10.1
36kidney disease10.1
37pneumonia10.1
38immunotactoid glomerulopathy10.1
39mycoplasmal pneumonia10.1
40steroid-resistant nephrotic syndrome10.1
41proteinuria10.1
42collagen type iii glomerulopathy10.1
43non-amyloid fibrillary glomerulopathy10.1
44hemolytic-uremic syndrome10.1CFHR1, CFB, CFH
45multiple sclerosis, disease progression, modifier of10.1APOE, VTN
46hyperlipidemia, familial combined10.1APOE, C3
47iga glomerulonephritis10.0CFH, VTN, C3
48nephritis10.0C3, VTN, CFB
49myocardial infarction10.0
50inferior myocardial infarction10.0

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



Diseases related to dense deposit disease

Symptoms for Dense Deposit Disease

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Drugs & Therapeutics for Dense Deposit Disease

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Drug clinical trials:

Search ClinicalTrials for Dense Deposit Disease

Search NIH Clinical Center for Dense Deposit Disease

Genetic Tests for Dense Deposit Disease

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Genetic tests related to Dense Deposit Disease:

id Genetic test Affiliating Genes
1 Mesangiocapillary Glomerulonephritis, Type Ii22

Anatomical Context for Dense Deposit Disease

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MalaCards organs/tissues related to Dense Deposit Disease:

31
Kidney, Breast

Animal Models for Dense Deposit Disease or affiliated genes

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MGI Mouse Phenotypes related to Dense Deposit Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.7CFH, APOE, C3
2MP:00028738.3C5, C3, VTN, CFB, CFH
3MP:00053678.2C3, APOE, CFB, CFH
4MP:00053908.2C5, C3, APOE, CFB
5MP:00053877.5CFH, CFB, APOE, C3, C5
6MP:00053767.4CFH, CFB, APOE, VTN, C3, C5

Publications for Dense Deposit Disease

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Articles related to Dense Deposit Disease:

(show all 38)
idTitleAuthorsYear
1
C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. (24799308)
2014
2
Streptococcal infection as possible trigger for dense deposit disease (C3 glomerulopathy). (24384791)
2014
3
C4 dense-deposit disease. (24552345)
2014
4
Dense deposit disease in an elderly patient: report of a case. (24998957)
2014
5
Heterogeneous histologic and clinical evolution in 3 cases of dense deposit disease with long-term follow-up. (25260719)
2014
6
Eculizumab therapy in a patient with dense-deposit disease associated with partial lipodystropy. (24464478)
2014
7
Blockade of alternative complement pathway in dense deposit disease. (24672732)
2014
8
Eculizumab in dense-deposit disease after renal transplantation. (24908321)
2014
9
Complement factor H-related hybrid protein deregulates complement in dense deposit disease. (24334459)
2014
10
Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy. (23391537)
2013
11
Childhood-onset dense deposit disease: a rare cause of proteinuria. (24338037)
2013
12
Dense deposit disease and C3 glomerulopathy. (24161036)
2013
13
Dense Deposit Disease: A Rare Cause of Steroid Resistant Nephrotic Syndrome. (23783769)
2013
14
Dense deposit disease: a 29-years electron microscopy experience. (24053741)
2013
15
Eculizumab for the treatment of dense-deposit disease. (22435383)
2012
16
Dense deposit disease in Korean children: a multicenter clinicopathologic study. (23091320)
2012
17
Pathology after eculizumab in dense deposit disease and C3 GN. (22677550)
2012
18
Clinical and pathological features of dense deposit disease in Chinese patients. (22874109)
2012
19
Eculizumab for dense deposit disease and C3 glomerulonephritis. (22403278)
2012
20
Eculizumab in a patient with dense-deposit disease. (22435382)
2012
21
Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. (22456601)
2012
22
Experimental models of membranoproliferative glomerulonephritis, including dense deposit disease. (21252520)
2011
23
A case of dense deposit disease associated with a group A streptococcal infection without the involvement of C3NeF or complement factor H deficiency. (20221776)
2010
24
Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. (20852386)
2010
25
Anti-factor B autoantibody in dense deposit disease. (20193965)
2010
26
Membranoproliferative glomerulonephritis type II (dense deposit disease) in association with monoclonal gammopathy. (17635761)
2007
27
Dense deposit disease is not a membranoproliferative glomerulonephritis. (17396142)
2007
28
Deletion of Lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). (16612335)
2006
29
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). (16299065)
2006
30
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. (15800116)
2005
31
Crescentic glomerulonephritis and dense deposit disease in a woman with breast carcinoma on immunosuppressive chemotherapy. (15332237)
2004
32
Crescentic glomerulonephritis in childhood: acute nonproliferative glomerulitis versus dense deposit disease. (12666078)
2003
33
Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease. (10783137)
2000
34
Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II (20301598)
1993
35
Porcine membranoproliferative glomerulonephritis with intramembranous dense deposits (porcine dense deposit disease). (8323737)
1993
36
Extensive complement activation in hereditary porcine membranoproliferative glomerulonephritis type II (porcine dense deposit disease). (8238252)
1993
37
Regression of membranoproliferative glomerulonephritis type II (dense deposit disease): observations in six children. (3400634)
1988
38
Mycoplasmal pneumonia associated with mesangiocapillary glomerulonephritis type II (dense deposit disease). (6516912)
1984

Variations for Dense Deposit Disease

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Expression for genes affiliated with Dense Deposit Disease

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

Pathways for genes affiliated with Dense Deposit Disease

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4C5, C3
29.3C3, VTN
3
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.7CFH, CFB, C3, C5
48.7CFH, CFB, C3, C5
5
Show member pathways
8.1CFH, CFB, VTN, C3, C5
6
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
8.1C5, C3, VTN, CFB, CFH

Compounds for genes affiliated with Dense Deposit Disease

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 2BitterDB, 49PharmGKB, 28IUPHAR
See all sources

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

(show all 14)
idCompoundScoreTop Affiliating Genes
1anaphylatoxin439.6C5, C3
2formate439.3APOE, VTN
3guanidine43 24 1211.2VTN, APOE
4polysaccharide439.2CFH, VTN, C3
5fibrinogen439.2C3, VTN, CFH
6dermatan sulfate439.1VTN, APOE
7polyethylene glycol439.1VTN, APOE
8hyaluronic acid43 2410.1VTN, APOE, CFH
9triacylglycerol438.9APOE, C3
10chloroquine43 2 49 28 1212.8VTN, APOE
11cholesterol43 28 24 1211.4CFH, APOE, VTN, C3
12cysteine438.3CFH, APOE, VTN, C3
13serine438.0C3, VTN, APOE, CFB, CFH
14heparin43 28 24 1210.2C3, CFH, CFHR2, CFHR5, CFHR1, APOE

GO Terms for genes affiliated with Dense Deposit Disease

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

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:00700628.1C5, C3, VTN, APOE
2blood microparticleGO:00725627.4C3, CFH, CFB, CFHR1, APOE, VTN
3extracellular spaceGO:00056157.1CFH, CFHR1, APOE, VTN, C3, C5
4extracellular regionGO:00055766.3CFH, CFHR2, CFB, CFHR5, APOE, VTN

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation vascular endothelial growth factor productionGO:00105759.5C5, C3
2positive regulation of angiogenesisGO:00457669.4C5, C3
3complement activation, classical pathwayGO:00069589.3C5, C3
4negative regulation of blood coagulationGO:00301959.2VTN, APOE
5cellular calcium ion homeostasisGO:00068748.9C5, APOE
6G-protein coupled receptor signaling pathwayGO:00071868.6APOE, C3, C5
7complement activation, alternative pathwayGO:00069578.5C5, C3, CFHR5, CFB, CFH
8complement activationGO:00069568.5C5, C3, CFHR1, CFB, CFH
9regulation of complement activationGO:00304498.3CFH, CFB, VTN, C3, C5
10innate immune responseGO:00450878.3CFH, CFB, VTN, C3, C5

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

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:00048669.4C5, C3
2heparin bindingGO:00082018.5VTN, APOE, CFH

Products for genes affiliated with Dense Deposit Disease

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Sources for Dense Deposit Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet