MCID: DFF021
MIFTS: 42

Diffuse Mesangial Sclerosis malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Aliases & Classifications for Diffuse Mesangial Sclerosis

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Sources:
41NIH Rare Diseases, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
See all sources

Diffuse Mesangial Sclerosis, Aliases & Descriptions:

Name: Diffuse Mesangial Sclerosis 41 60
Mesangial Sclerosis, Diffuse 41 20 43 22
Isolated Diffuse Mesangial Sclerosis 41 20
Familial Mesangial Sclerosis 41 60
 
Nephrotic Syndrome, Early Onset with Diffuse Mesangial Sclerosis 41
Diffuse Isolated Mesangial Sclerosis 41
Dms 41


Classifications:

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


Summaries for Diffuse Mesangial Sclerosis

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MalaCards based summary: Diffuse Mesangial Sclerosis, also known as mesangial sclerosis, diffuse, is related to pierson syndrome and nephrotic 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.

Related Diseases for Diffuse Mesangial Sclerosis

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Diseases related to Diffuse Mesangial Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1pierson syndrome31.2LAMB2
2nephrotic syndrome31.1PAX2, PLCE1, WT1, LAMB2
3denys-drash syndrome30.7WT1, PDGFA, PAX2
4wilms tumor30.6PAX2, WT1
5muscular dystrophy30.0LAMB2, LAMB1
6lung cancer29.7LAMB1, TGFB1, PDGFA
7myotonic dystrophy10.5
8nephrotic syndrome, type 310.5
9sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis10.5
10familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis10.5
11nephrosis10.4LAMB2
12nephrotic syndrome, type 410.4
13microcephaly10.4
14rheumatoid arthritis10.3
15arthritis10.2
16dermatomyositis10.2
17coenzyme q10 deficiency, primary, 610.2
18galloway-mowat syndrome10.2
19nephrotic syndrome, type 810.2
20nephrotic syndrome, type 110.2
21kawasaki disease10.2
22severe combined immunodeficiency due to ada deficiency10.2
23cataract10.2
24focal segmental glomerulosclerosis10.2PAX2, WT1
25childhood type dermatomyositis10.2
26diabetes insipidus10.2
27maturity-onset diabetes of the young10.2
28neuropathy10.2
29vaccinia10.1
30autonomic neuropathy10.1
31dermatitis10.1
32interstitial lung disease10.1
33psoriasis10.1
34endotheliitis10.1
35proteinuria10.0TGFB1, PAX2, WT1
36kidney disease10.0TGFB1, WT1, PAX2
37chronic kidney failure10.0TGFB1, PAX2, WT1
38ureteral obstruction10.0TGFB1, PDGFA
39mesothelioma, somatic10.0PDGFA, WT1
40breast cancer9.9
41myotonic dystrophy 29.9
42epidermolysis bullosa simplex, dowling-meara type9.9
43myotonic dystrophy 19.9
44renal cell carcinoma9.9
45wolfram syndrome9.9
46celiac disease9.9
47optic nerve hypoplasia9.9
48cervical cancer, somatic9.9
49emery-dreifuss muscular dystrophy, dominant type9.9
50hematopoietic stem cell transplantation9.9

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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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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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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MalaCards organs/tissues related to Diffuse Mesangial Sclerosis:

31
Brain

Animal Models for Diffuse Mesangial Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Diffuse Mesangial Sclerosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8PAX2, TGFB1, LAMC1, LAMB2
2MP:00053698.5LAMC1, TGFB1, PLCE1, PDGFA, WT1
3MP:00053888.4LAMC1, TGFB1, PDGFA, WT1
4MP:00053898.3LAMC1, TGFB1, PAX2, PDGFA, WT1
5MP:00053678.2WT1, PDGFA, PAX2, TGFB1, LAMC1, LAMB2
6MP:00053858.1LAMC1, TGFB1, PAX2, PLCE1, PDGFA, WT1
7MP:00053808.1LAMC1, LAMB1, TGFB1, PAX2, PDGFA, WT1
8MP:00053767.9LAMB2, LAMC1, TGFB1, PLCE1, PDGFA, WT1
9MP:00107687.6LAMB2, LAMC1, LAMB1, TGFB1, PAX2, PDGFA

Publications for Diffuse Mesangial Sclerosis

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Articles related to Diffuse Mesangial Sclerosis:

(show all 35)
idTitleAuthorsYear
1
Glomerular epithelial cell phenotype in diffuse mesangial sclerosis: a report of 2 cases with markedly increased urinary podocyte excretion. (24856573)
2014
2
Diffuse mesangial sclerosis - Report of two cases. (23087559)
2012
3
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. (21365190)
2011
4
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. (19037252)
2009
5
Evolutive study of children with diffuse mesangial sclerosis. (19066977)
2009
6
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). (18065803)
2008
7
Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. (16523262)
2006
8
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. (16479084)
2006
9
Congenital nephrotic syndrome: report of an infant with diffuse mesangial sclerosis. (14964988)
2003
10
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. (11241056)
2001
11
Immunohistochemical analysis of molecular events in tubulo-interstitial fibrosis in a mouse model of diffuse mesangial sclerosis (ICGN strain). (11307931)
2001
12
Diffuse mesangial sclerosis presenting as infantile nephrotic syndrome. (11418734)
2001
13
Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis. (11405118)
2001
14
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. (10805477)
2000
15
Nephrotic mice (ICGN strain): a model of diffuse mesangial sclerosis in infantile nephrotic syndrome. (10085455)
1999
16
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. (9916932)
1999
17
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
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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Expression for genes affiliated with Diffuse Mesangial Sclerosis

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

Pathways for genes affiliated with Diffuse Mesangial Sclerosis

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Pathways related to Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7TGFB1, WT1
29.6PDGFA, PLCE1
39.6LAMC1, LAMB1
49.6LAMC1, LAMB1
59.6TGFB1, PAX2
69.4PDGFA, TGFB1
7
Show member pathways
9.3LAMB1, LAMC1, LAMB2
8
Show member pathways
9.3LAMB1, LAMC1, LAMB2
99.3LAMB2, LAMC1, LAMB1
109.3LAMB2, LAMC1, LAMB1
119.1TGFB1, PDGFA, WT1
12
Show member pathways
9.1PDGFA, PLCE1, TGFB1
13
Show member pathways
9.1PDGFA, PLCE1, TGFB1
149.1LAMC1, LAMB1, TGFB1
15
Show member pathways
9.1TGFB1, LAMB1, LAMC1
168.7LAMB2, LAMC1, LAMB1, TGFB1
178.7TGFB1, LAMB1, LAMC1, LAMB2
18
Show member pathways
8.7TGFB1, LAMB1, LAMC1, LAMB2
19
Show member pathways
8.7TGFB1, LAMB1, LAMC1, LAMB2
208.7LAMB2, LAMC1, LAMB1, PDGFA
21
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.7LAMB2, LAMC1, LAMB1, PDGFA
22
Show member pathways
8.2PDGFA, TGFB1, LAMB1, LAMC1, LAMB2
238.2LAMB2, LAMC1, LAMB1, TGFB1, PDGFA
24
Show member pathways
Proteogylcan syndecan-mediated signaling events36
8.2PDGFA, TGFB1, LAMB1, LAMC1, LAMB2
25
Show member pathways
7.9LAMB2, LAMC1, LAMB1, TGFB1, PLCE1, PDGFA
26
Show member pathways
7.9LAMB2, LAMC1, LAMB1, TGFB1, PLCE1, PDGFA

Compounds for genes affiliated with Diffuse Mesangial Sclerosis

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Sources:
43Novoseek, 12DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB
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Compounds related to Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1tripeptide439.9WT1, LAMB2
2tetracycline43 1210.7WT1, TGFB1
3procollagen439.4TGFB1, PDGFA
4ribonucleic acid439.4WT1, PDGFA, TGFB1
512-o-tetradecanoylphorbol 13-acetate439.4TGFB1, PDGFA, WT1
6vitamin d439.3WT1, PDGFA, TGFB1
7paraffin439.2WT1, PDGFA, TGFB1
8losartan43 49 28 1212.1PDGFA, TGFB1
9heparin43 28 24 1212.1PDGFA, LAMC1, LAMB2
10retinoic acid43 249.9LAMB1, TGFB1, PDGFA, WT1
11oligonucleotide438.6WT1, KRBOX4, PDGFA, TGFB1
12estrogen438.5TGFB1, PDGFA, KRBOX4, WT1

GO Terms for genes affiliated with Diffuse Mesangial Sclerosis

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Cellular components related to Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1laminin-11 complexGO:00432609.9LAMC1, LAMB2
2laminin-10 complexGO:00432599.8LAMB1, LAMC1
3laminin-1 complexGO:00056069.7LAMC1, LAMB1
4basement membraneGO:00056049.4LAMB1, LAMC1, LAMB2
5microvillusGO:00059029.3PDGFA, TGFB1
6extracellular matrixGO:00310129.3LAMB1, LAMC1, LAMB2
7platelet alpha granule lumenGO:00310939.1TGFB1, PDGFA
8extracellular spaceGO:00056158.6PDGFA, TGFB1, LAMB1, LAMC1
9extracellular regionGO:00055768.2LAMB2, LAMC1, LAMB1, TGFB1, PDGFA

Biological processes related to Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1glomerulus developmentGO:003283510.2PLCE1, WT1
2metanephric epithelium developmentGO:007220710.2WT1, PAX2
3mesenchymal to epithelial transitionGO:006023110.2WT1, PAX2
4metanephric mesenchyme developmentGO:007207510.2WT1, PAX2
5camera-type eye developmentGO:004301010.1PAX2, WT1
6branching involved in ureteric bud morphogenesisGO:000165810.0WT1, PAX2
7ureteric bud developmentGO:00016579.9WT1, TGFB1
8substrate adhesion-dependent cell spreadingGO:00344469.9LAMB1, LAMC1
9positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.9PAX2, TGFB1
10protein kinase B signalingGO:00434919.9PAX2, TGFB1
11endoderm developmentGO:00074929.8TGFB1, LAMC1
12inner ear developmentGO:00488399.7PDGFA, TGFB1
13positive regulation of MAP kinase activityGO:00434069.7PDGFA, TGFB1
14positive regulation of cell divisionGO:00517819.6PDGFA, TGFB1
15response to woundingGO:00096119.6TGFB1, PDGFA
16axon guidanceGO:00074119.5LAMB2, LAMC1, LAMB1
17positive regulation of protein kinase B signalingGO:00518979.4TGFB1, PDGFA
18epidermal growth factor receptor signaling pathwayGO:00071739.4TGFB1, PLCE1, PDGFA
19cell adhesionGO:00071559.4LAMB1, LAMC1, LAMB2
20positive regulation of cell migrationGO:00303359.4PDGFA, TGFB1, LAMB1
21negative regulation of transcription, DNA-templatedGO:00458929.3WT1, PAX2, TGFB1
22response to estradiolGO:00323559.3PDGFA, TGFB1
23positive regulation of transcription, DNA-templatedGO:00458939.3WT1, PAX2, TGFB1
24platelet degranulationGO:00025769.1PDGFA, TGFB1
25positive regulation of epithelial cell proliferationGO:00506799.1PAX2, TGFB1, LAMB1, LAMC1
26extracellular matrix organizationGO:00301988.6LAMB2, LAMC1, LAMB1, TGFB1, PDGFA

Molecular functions related to Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1C2H2 zinc finger domain bindingGO:00707429.8WT1, PAX2
2glycosphingolipid bindingGO:00432089.7LAMB1, LAMC1
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:00010779.6WT1, STK16
4extracellular matrix structural constituentGO:00052019.3LAMB1, LAMC1
5enzyme bindingGO:00198999.1LAMB1, TGFB1, PLCE1

Products for genes affiliated with Diffuse Mesangial Sclerosis

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Sources for Diffuse Mesangial Sclerosis

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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