DMS
MCID: DFF021
MIFTS: 48

Diffuse Mesangial Sclerosis (DMS) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Diffuse Mesangial Sclerosis

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MalaCards: Diffuse Mesangial Sclerosis, also known as mesangial sclerosis, diffuse, is related to nephrotic syndrome and denys-drash syndrome. An important gene associated with Diffuse Mesangial Sclerosis is WT1 (Wilms tumor 1), and among its related pathways are Regulation of Telomerase and S-1P Stimulated Signaling. The compounds tripeptide and tetracycline have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are vision/eye and muscle.

Aliases & Classifications for Diffuse Mesangial Sclerosis

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43NIH Rare Diseases, 62UMLS, 20GeneTests, 22GTR, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

diffuse mesangial sclerosis 43 62
mesangial sclerosis, diffuse 43 20 22 45
isolated diffuse mesangial sclerosis 43 20
nephrotic syndrome, early onset with diffuse mesangial sclerosis 43
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 73)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome31.2PAX2, PLCE1, WT1, LAMB2
2denys-drash syndrome30.7WT1, PDGFA, PAX2
3pierson syndrome30.5LAMB2
4wilms tumor30.2WT1, KRBOX4, PAX2, PDGFA
5muscular dystrophy29.9LAMB2, LAMB1
6myotonic dystrophy10.5
7diabetes mellitus10.5
8microcephaly10.4
9nephrotic syndrome type 310.4
10sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis10.4
11familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis10.4
12arthritis10.2
13rheumatoid arthritis10.2
14kawasaki disease10.2
15cataract10.2
16nephrotic syndrome, type 410.2
17diabetes insipidus10.2
18maturity-onset diabetes of the young10.2
19dermatomyositis10.2
20congenital myotonic dystrophy10.2
21nephrosis10.1LAMB2
22vaccinia10.1
23dermatitis10.1
24interstitial lung disease10.1
25neuropathy10.1
26psoriasis10.1
27type 2 diabetes mellitus10.1
28myotonic dystrophy type 110.1
29endotheliitis10.1
30focal segmental glomerulosclerosis10.0PAX2, WT1
31nephroblastoma10.0PAX2, WT1
32proteinuria10.0TGFB1, PAX2, WT1
33primary hyperoxaluria10.0TGFB1, WT1, PAX2
34chronic kidney failure10.0TGFB1, PAX2, WT1
35ureteral obstruction10.0TGFB1, PDGFA
36malignant mesothelioma10.0PDGFA, WT1
37benign mesothelioma10.0WT1, PDGFA
38glomerulosclerosis10.0TGFB1, PDGFA, WT1
39retinoblastoma9.9WT1, PDGFA, TGFB1
40idiopathic pulmonary fibrosis9.9TGFB1, PDGFA
41lung cancer9.9LAMB1, TGFB1, PDGFA
42diabetic nephropathy9.9
43melancholia9.9
44celiac disease9.9
45facioscapulohumeral muscular dystrophy9.9
46neonatal diabetes mellitus9.9
47wolfram syndrome9.9
48hypoglycemia9.9
49ulnar neuropathy9.9
50atopic dermatitis9.9

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



Diseases related to diffuse mesangial sclerosis

Symptoms for Diffuse Mesangial Sclerosis

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Drugs & Therapeutics for Diffuse Mesangial Sclerosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Diffuse Mesangial Sclerosis

Search NIH Clinical Center for Diffuse Mesangial Sclerosis

Genetic Tests for Diffuse Mesangial Sclerosis

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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

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

33
Brain

Animal Models for Diffuse Mesangial Sclerosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Diffuse Mesangial Sclerosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8LAMB2, TGFB1, PAX2, LAMC1
2MP:00053698.5WT1, PDGFA, TGFB1, LAMC1, PLCE1
3MP:00053888.4TGFB1, LAMC1, WT1, PDGFA
4MP:00053898.3WT1, LAMC1, TGFB1, PAX2, PDGFA
5MP:00053678.2LAMB2, WT1, PDGFA, PAX2, LAMC1, TGFB1
6MP:00053858.1WT1, PLCE1, PAX2, TGFB1, LAMC1, PDGFA
7MP:00053808.1LAMB1, LAMC1, WT1, PDGFA, PAX2, TGFB1
8MP:00053767.9PDGFA, WT1, TGFB1, LAMC1, LAMB2, PLCE1
9MP:00107687.6LAMB2, PDGFA, LAMC1, LAMB1, TGFB1, PAX2

Publications for Diffuse Mesangial Sclerosis

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52PubMed
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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

Variations for Diffuse Mesangial Sclerosis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Diffuse Mesangial Sclerosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1WT1NM_000378.4(WT1): c.1333C> T (p.Arg445Trp)single nucleotide variantPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
2WT1NM_000378.4(WT1): c.1339G> A (p.Asp447Asn)single nucleotide variantPathogenicrs28941778GRCh37Chr 11, 32413560: 32413560
3WT1NM_000378.4(WT1): c.1282C> T (p.His428Tyr)single nucleotide variantPathogenicrs28942089GRCh37Chr 11, 32414218: 32414218
4WT1NM_001198551.1(WT1): c.787+13C> Tsingle nucleotide variantPathogenicGRCh38Chr 11, 32391968: 32391968
5WT1NM_000378.4(WT1): c.1300T> C (p.Phe434Leu)single nucleotide variantPathogenicrs28941777GRCh37Chr 11, 32413599: 32413599

Expression for genes affiliated with Diffuse Mesangial Sclerosis

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2BioGPS, 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

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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 60Thomson Reuters, 5Cell Signaling Technology, 30KEGG, 55Reactome
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Pathways related to Diffuse Mesangial Sclerosis according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7TGFB1, WT1
29.6PDGFA, PLCE1
39.6LAMB1, LAMC1
49.6LAMC1, LAMB1
59.6PAX2, TGFB1
69.4PDGFA, TGFB1
79.3LAMB2, LAMC1, LAMB1
89.3LAMC1, LAMB1, LAMB2
9
Show member pathways
9.3LAMC1, LAMB2, LAMB1
10
Show member pathways
9.3LAMC1, LAMB2, LAMB1
119.1PDGFA, TGFB1, WT1
12
Show member pathways
9.1TGFB1, PLCE1, PDGFA
13
Show member pathways
9.1PLCE1, PDGFA, TGFB1
149.1LAMB1, LAMC1, TGFB1
15
Show member pathways
9.1TGFB1, LAMB1, LAMC1
168.7TGFB1, LAMB1, LAMC1, LAMB2
17
Show member pathways
8.7TGFB1, LAMB2, LAMC1, LAMB1
18
Show member pathways
8.7TGFB1, LAMB1, LAMC1, LAMB2
198.7LAMC1, LAMB2, LAMB1, TGFB1
208.7LAMC1, LAMB1, LAMB2, PDGFA
21
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.7LAMB1, LAMB2, LAMC1, PDGFA
228.2TGFB1, LAMB2, LAMC1, LAMB1, PDGFA
23
Show member pathways
Proteogylcan syndecan-mediated signaling events38
8.2LAMB1, TGFB1, PDGFA, LAMC1, LAMB2
24
Show member pathways
8.2TGFB1, PDGFA, LAMB1, LAMC1, LAMB2
25
Show member pathways
7.9LAMB1, TGFB1, LAMB2, PLCE1, PDGFA, LAMC1
26
Show member pathways
7.9LAMB1, TGFB1, LAMC1, LAMB2, PLCE1, PDGFA

Compounds for genes affiliated with Diffuse Mesangial Sclerosis

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45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB
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Compounds related to Diffuse Mesangial Sclerosis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1tripeptide459.9WT1, LAMB2
2tetracycline45 1110.7WT1, TGFB1
3procollagen459.4TGFB1, PDGFA
4ribonucleic acid459.4WT1, PDGFA, TGFB1
512-o-tetradecanoylphorbol 13-acetate459.4TGFB1, PDGFA, WT1
6vitamin d459.3WT1, PDGFA, TGFB1
7paraffin459.2WT1, PDGFA, TGFB1
8losartan45 51 29 1112.1PDGFA, TGFB1
9heparin45 29 24 1112.1PDGFA, LAMC1, LAMB2
10retinoic acid45 249.9LAMB1, TGFB1, PDGFA, WT1
11oligonucleotide458.6WT1, KRBOX4, PDGFA, TGFB1
12estrogen458.5TGFB1, PDGFA, KRBOX4, WT1

GO Terms for genes affiliated with Diffuse Mesangial Sclerosis

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

idNameGO IDScoreTop Affiliating Genes
1laminin-11 complexGO:0432609.9LAMC1, LAMB2
2laminin-10 complexGO:0432599.8LAMB1, LAMC1
3laminin-1 complexGO:0056069.7LAMC1, LAMB1
4basement membraneGO:0056049.4LAMB1, LAMC1, LAMB2
5microvillusGO:0059029.3PDGFA, TGFB1
6extracellular matrixGO:0310129.3LAMB1, LAMC1, LAMB2
7platelet alpha granule lumenGO:0310939.1TGFB1, PDGFA
8extracellular spaceGO:0056158.6PDGFA, TGFB1, LAMB1, LAMC1
9extracellular regionGO:0055768.2LAMB2, LAMC1, LAMB1, TGFB1, PDGFA

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1glomerulus developmentGO:03283510.2PLCE1, WT1
2metanephric epithelium developmentGO:07220710.2WT1, PAX2
3mesenchymal to epithelial transitionGO:06023110.2WT1, PAX2
4metanephric mesenchyme developmentGO:07207510.2WT1, PAX2
5camera-type eye developmentGO:04301010.1PAX2, WT1
6branching involved in ureteric bud morphogenesisGO:00165810.0WT1, PAX2
7ureteric bud developmentGO:0016579.9WT1, TGFB1
8substrate adhesion-dependent cell spreadingGO:0344469.9LAMB1, LAMC1
9positive regulation of branching involved in ureteric bud morphogenesisGO:0901909.9PAX2, TGFB1
10protein kinase B signalingGO:0434919.9PAX2, TGFB1
11endoderm developmentGO:0074929.8TGFB1, LAMC1
12inner ear developmentGO:0488399.7PDGFA, TGFB1
13positive regulation of MAP kinase activityGO:0434069.7PDGFA, TGFB1
14positive regulation of cell divisionGO:0517819.6PDGFA, TGFB1
15response to woundingGO:0096119.6TGFB1, PDGFA
16axon guidanceGO:0074119.5LAMB2, LAMC1, LAMB1
17positive regulation of protein kinase B signalingGO:0518979.4TGFB1, PDGFA
18epidermal growth factor receptor signaling pathwayGO:0071739.4TGFB1, PLCE1, PDGFA
19cell adhesionGO:0071559.4LAMB1, LAMC1, LAMB2
20positive regulation of cell migrationGO:0303359.4PDGFA, TGFB1, LAMB1
21negative regulation of transcription, DNA-templatedGO:0458929.3WT1, PAX2, TGFB1
22response to estradiolGO:0323559.3PDGFA, TGFB1
23positive regulation of transcription, DNA-templatedGO:0458939.3WT1, PAX2, TGFB1
24platelet degranulationGO:0025769.1PDGFA, TGFB1
25positive regulation of epithelial cell proliferationGO:0506799.1PAX2, TGFB1, LAMB1, LAMC1
26extracellular matrix organizationGO:0301988.6LAMB2, LAMC1, LAMB1, TGFB1, PDGFA

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

idNameGO IDScoreTop Affiliating Genes
1C2H2 zinc finger domain bindingGO:0707429.8WT1, PAX2
2glycosphingolipid bindingGO:0432089.7LAMB1, LAMC1
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.6WT1, STK16
4extracellular matrix structural constituentGO:0052019.3LAMB1, LAMC1
5enzyme bindingGO:0198999.1LAMB1, TGFB1, PLCE1

Products for genes affiliated with Diffuse Mesangial Sclerosis

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Sources for Diffuse Mesangial Sclerosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet