DMS
MCID: DFF021
MIFTS: 40

Diffuse Mesangial Sclerosis (DMS) malady

Genetic category

Summaries for Diffuse Mesangial Sclerosis

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33MalaCards
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MalaCards: Diffuse Mesangial Sclerosis, also known as mesangial sclerosis, diffuse, is related to denys-drash syndrome and wilms tumor. An important gene associated with Diffuse Mesangial Sclerosis is WT1 (Wilms tumor 1), and among its related pathways are Axon guidance and Cell adhesion Endothelial cell contacts by non-junctional mechanisms. The compounds vitamin d and ribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are muscle and renal/urinary system.

Aliases & Classifications for Diffuse Mesangial Sclerosis

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

diffuse mesangial sclerosis 43 61
mesangial sclerosis, diffuse 43 20 22 45
isolated diffuse mesangial sclerosis 43 20
diffuse isolated mesangial sclerosis 43
familial mesangial sclerosis 43
dms 43


Related Diseases for Diffuse Mesangial Sclerosis

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17GeneCards, 18GeneDecks
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Diseases related to Diffuse Mesangial Sclerosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1denys-drash syndrome30.6PAX2, WT1, PDGFA
2wilms tumor30.3PDGFA, WT1, KRBOX4, PAX2
3n syndrome10.8
4microcephaly10.4
5micro syndrome10.4
6nephrotic syndrome type 310.4
7nephrotic syndrome, type 410.4
8sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis10.4
9congenital myotonic dystrophy10.3
10arthritis10.2
11familial nephrotic syndrome10.2
12alpha chain disease10.2
13kawasaki disease10.2
14conn's syndrome10.2
15congenital cytomegalovirus10.2
16pierson syndrome10.2
17cataract, congenital10.2
18diabetes insipidus10.2
19vaccinia10.1
20maturity-onset diabetes of the young10.1
21monogenic diabetes10.1
22epidermolysis bullosa10.0LAMB2
23nephrosis10.0LAMB2
24thymoma10.0STK16
25renal dysplasia10.0PAX2
26kidney cancer10.0PAX2
27aniridia10.0WT1
28renal agenesis10.0PAX2
29nephroblastoma10.0PAX2, WT1
30focal segmental glomerulosclerosis10.0PAX2, WT1
31prostate cancer10.0PAX2, TGFB1
32malignant mesothelioma10.0WT1, PDGFA
33glioblastoma multiforme10.0TGFB1, PDGFA
34proteinuria10.0TGFB1, PAX2, WT1
35nephrotic syndrome10.0WT1, PLCE1, PAX2, LAMB2
36chronic kidney failure10.0WT1, PAX2, TGFB1
37ureteral obstruction10.0TGFB1, PDGFA
38primary hyperoxaluria10.0PDGFA, WT1, PAX2, TGFB1
39lung cancer10.0PDGFA, LAMB1, TGFB1
40breast cancer10.0TGFB1, PAX2, KRBOX4, PDGFA
41melanoma10.0PDGFA, LAMC1, TGFB1
42adenocarcinoma10.0PDGFA, WT1, PAX2, LAMB1, TGFB1
43diabetic nephropathy9.9
44melancholia9.9
45laryngeal small cell carcinoma9.9
46ulnar neuropathy9.9
47atopic dermatitis9.9
48small cell carcinoma9.9
49oculocutaneous albinism9.9
50celiac disease9.9

Graphical network of the top 20 diseases related to Diffuse Mesangial Sclerosis:



Diseases related to diffuse mesangial sclerosis

Clinical Features for Diffuse Mesangial Sclerosis

Drugs & Therapeutics for Diffuse Mesangial Sclerosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Diffuse Mesangial Sclerosis

Drug clinical trials:

Search ClinicalTrials for Diffuse Mesangial Sclerosis

Search NIH Clinical Center for Diffuse Mesangial Sclerosis

Search CenterWatch for Diffuse Mesangial Sclerosis

Genetic Tests for Diffuse Mesangial Sclerosis

Sources:
20GeneTests, 22GTR
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Genetic tests related to Diffuse Mesangial Sclerosis:

id Genetic test Affiliating Genes
1 Diffuse Mesangial Sclerosis Syndromes (dms)20 WT1
2 Isolated Diffuse Mesangial Sclerosis20 WT1
3 Diffuse Mesangial Sclerosis22

Anatomical Context for Diffuse Mesangial Sclerosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Diffuse Mesangial Sclerosis:

33
Brain

Animal Models for Diffuse Mesangial Sclerosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Diffuse Mesangial Sclerosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1PDGFA, WT1, PLCE1, LAMC1, TGFB1
2MP:00053678.0TGFB1, LAMB2, LAMC1, PAX2, WT1, PDGFA
3MP:00053807.9PDGFA, WT1, PAX2, LAMB1, LAMC1, TGFB1
4MP:00053857.8PDGFA, WT1, PLCE1, PAX2, LAMC1, TGFB1
5MP:00107687.5TGFB1, LAMB2, LAMC1, LAMB1, PAX2, WT1

Publications for Diffuse Mesangial Sclerosis

Sources:
51PubMed
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Articles related to Diffuse Mesangial Sclerosis:

(show all 35)
idTitleAuthorsYear
1
Diffuse mesangial sclerosis - Report of two cases. (23087559)
2012
2
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. (21365190)
2011
3
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. (19037252)
2009
4
Evolutive study of children with diffuse mesangial sclerosis. (19066977)
2009
5
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). (18065803)
2008
6
Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. (16523262)
2006
7
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. (16479084)
2006
8
Congenital nephrotic syndrome: report of an infant with diffuse mesangial sclerosis. (14964988)
2003
9
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. (11241056)
2001
10
Immunohistochemical analysis of molecular events in tubulo-interstitial fibrosis in a mouse model of diffuse mesangial sclerosis (ICGN strain). (11307931)
2001
11
Diffuse mesangial sclerosis presenting as infantile nephrotic syndrome. (11418734)
2001
12
Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis. (11405118)
2001
13
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. (10805477)
2000
14
Nephrotic mice (ICGN strain): a model of diffuse mesangial sclerosis in infantile nephrotic syndrome. (10085455)
1999
15
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. (9916932)
1999
16
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. (9529364)
1998
17
Isolated diffuse mesangial sclerosis in three siblings. (9546709)
1998
18
Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement. (9894834)
1998
19
Diffuse mesangial sclerosis associated with Kawasaki disease: an analysis of alpha chains (alpha 1-alpha 6) of human type IV collagen in the renal basement membrane. (9230914)
1997
20
Congenital nephrotic syndrome, diffuse mesangial sclerosis, and bilateral cataract. (8971891)
1996
21
Hypoplastic tubules occurring in diffuse mesangial sclerosis. (8970202)
1996
22
Diffuse mesangial sclerosis: a unique type of congenital and infantile nephrotic syndrome. (8684541)
1996
23
Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy? (7794729)
1995
24
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. (8182716)
1994
25
Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. (8381254)
1993
26
Should bilateral nephrectomy be carried out in all children with diffuse mesangial sclerosis prior to renal transplantation in view of the connection with Drash syndrome and therefore the risk of a Wilms' tumour developing? (1319726)
1992
27
Diffuse mesangial sclerosis in a fetus. (1889151)
1991
28
Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis. (1911117)
1991
29
Congenital/infantile nephrotic syndrome with diffuse mesangial sclerosis: relationship with Drash syndrome. (2762352)
1989
30
Clinicopathological quiz. Wilms' tumour with renal failure due to diffuse mesangial sclerosis. (2856390)
1987
31
Diffuse mesangial sclerosis--light, immunofluorescent and electronmicroscopy findings. (3897087)
1985
32
Nephrotic syndrome with diffuse mesangial sclerosis in identical twins. (6682143)
1983
33
Diffuse mesangial sclerosis and ocular abnormalities in two siblings. (6809680)
1982
34
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. (7180443)
1982
35
Infantile nephrotic syndrome with diffuse mesangial sclerosis: a disturbance of glomerular basement membrane development? (7379364)
1980

Genetic Variations for Diffuse Mesangial Sclerosis

Expression for genes affiliated with Diffuse Mesangial Sclerosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diffuse Mesangial Sclerosis

Search GEO for disease gene expression data for Diffuse Mesangial Sclerosis.

Pathways for genes affiliated with Diffuse Mesangial Sclerosis

Sources:
54Reactome, 12EMD Millipore, 4Cell Signaling Technology, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG
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Pathways related to Diffuse Mesangial Sclerosis according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6LAMC1, LAMB1
2
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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9.6LAMC1, LAMB1
3
Cell adhesion Cell-matrix glycoconjugates
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9.6LAMC1, LAMB1
49.5PAX2, TGFB1
59.4PDGFA, TGFB1
69.3LAMB2, LAMC1, LAMB1
7
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9.3LAMB2, LAMC1, LAMB1
89.3LAMB2, LAMC1, LAMB1
99.3LAMB1, LAMC1, LAMB2
109.1TGFB1, WT1, PDGFA
119.1LAMB1, LAMC1, TGFB1
12
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8.8LAMB1, LAMC1, LAMB2, TGFB1
138.8LAMB1, LAMC1, LAMB2, TGFB1
14
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8.8PDGFA, LAMB1, LAMC1, LAMB2
15
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8.8PDGFA, LAMB1, LAMC1, LAMB2
168.8PDGFA, LAMB1, LAMC1, LAMB2
17
Hide members
8.8LAMB2, LAMC1, LAMB1, PDGFA
188.3TGFB1, LAMB2, LAMC1, LAMB1, PDGFA
19
Hide members
7.9TGFB1, LAMB2, LAMC1, LAMB1, PLCE1, PDGFA
20
Hide members
7.9TGFB1, LAMB2, LAMC1, LAMB1, PLCE1, PDGFA

Compounds for genes affiliated with Diffuse Mesangial Sclerosis

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45Novoseek
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Compounds related to Diffuse Mesangial Sclerosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d459.1TGFB1, WT1, PDGFA
2ribonucleic acid459.0PDGFA, WT1, TGFB1
312-o-tetradecanoylphorbol 13-acetate458.8TGFB1, WT1, PDGFA
4oligonucleotide458.5TGFB1, KRBOX4, WT1, PDGFA

GO Terms for genes affiliated with Diffuse Mesangial Sclerosis

Sources:
16Gene Ontology
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Cellular components related to Diffuse Mesangial Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1laminin-11 complexGO:0432609.8LAMB2, LAMC1
2laminin-10 complexGO:0432599.8LAMC1, LAMB1
3laminin-1 complexGO:0056069.7LAMC1, LAMB1
4platelet alpha granule lumenGO:0310939.4TGFB1, PDGFA
5basement membraneGO:0056049.4LAMB1, LAMC1, LAMB2
6microvillusGO:0059029.3TGFB1, PDGFA
7extracellular matrixGO:0310129.3LAMB1, LAMC1, LAMB2
8extracellular spaceGO:0056158.3TGFB1, LAMC1, LAMB1, PDGFA

Biological processes related to Diffuse Mesangial Sclerosis according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1glomerulus developmentGO:03283510.1WT1, PLCE1
2metanephric epithelium developmentGO:07220710.1WT1, PAX2
3mesenchymal to epithelial transitionGO:06023110.1PAX2, WT1
4metanephric mesenchyme developmentGO:07207510.0PAX2, WT1
5camera-type eye developmentGO:0430109.8WT1, PAX2
6substrate adhesion-dependent cell spreadingGO:0344469.8LAMB1, LAMC1
7positive regulation of branching involved in ureteric bud morphogenesisGO:0901909.8PAX2, TGFB1
8branching involved in ureteric bud morphogenesisGO:0016589.8PAX2, WT1
9endoderm developmentGO:0074929.7TGFB1, LAMC1
10protein kinase B signaling cascadeGO:0434919.7TGFB1, PAX2
11ureteric bud developmentGO:0016579.7TGFB1, WT1
12inner ear developmentGO:0488399.5PDGFA, TGFB1
13positive regulation of MAP kinase activityGO:0434069.3PDGFA, TGFB1
14positive regulation of cell migrationGO:0303359.3TGFB1, LAMB1, PDGFA
15epidermal growth factor receptor signaling pathwayGO:0071739.3TGFB1, PLCE1, PDGFA
16positive regulation of cell divisionGO:0517819.1TGFB1, PDGFA
17positive regulation of epithelial cell proliferationGO:0506799.0TGFB1, LAMC1, LAMB1, PAX2
18extracellular matrix organizationGO:0301988.6PDGFA, LAMB1, LAMC1, LAMB2, TGFB1

Molecular functions related to Diffuse Mesangial Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid bindingGO:0432089.5LAMC1, LAMB1
2C2H2 zinc finger domain bindingGO:0707429.5PAX2, WT1
3enzyme bindingGO:0198999.3TGFB1, LAMB1, PLCE1

Products for genes affiliated with Diffuse Mesangial Sclerosis

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Sources for Diffuse Mesangial Sclerosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet