MCID: DFF021
MIFTS: 38

Diffuse Mesangial Sclerosis malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Diffuse Mesangial Sclerosis

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Aliases & Descriptions for Diffuse Mesangial Sclerosis:

Name: Diffuse Mesangial Sclerosis 47 67
Diffuse Mesangial Sclerosis Syndromes 24 26
Isolated Diffuse Mesangial Sclerosis 47 24
Familial Mesangial Sclerosis 47 67
Mesangial Sclerosis, Diffuse 47 49
 
Nephrotic Syndrome, Early Onset with Diffuse Mesangial Sclerosis 47
Diffuse Isolated Mesangial Sclerosis 47
Idms 24
Dms 47

Classifications:



Summaries for Diffuse Mesangial Sclerosis

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MalaCards based summary: Diffuse Mesangial Sclerosis, also known as diffuse mesangial sclerosis syndromes, is related to pierson syndrome and nephrotic syndrome, type 4. An important gene associated with Diffuse Mesangial Sclerosis is WT1 (Wilms Tumor 1), and among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, and related mouse phenotypes are muscle and cardiovascular system.

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 all 48)
idRelated DiseaseScoreTop Affiliating Genes
1pierson syndrome32.3LAMB1, LAMB2
2nephrotic syndrome, type 431.0NPHS1, NPHS2, PAX2, PDGFA, WT1
3sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis12.1
4familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis12.1
5dermatomyositis11.6
6denys-drash syndrome11.5
7myotonic dystrophy 111.3
8nephrotic syndrome, type 311.3
9maturity-onset diabetes of the young11.2
10diabetes insipidus11.2
11nephrotic syndrome, type 811.1
12epidermolysis bullosa simplex, dowling-meara type11.1
13diaphyseal medullary stenosis with malignant fibrous histiocytoma10.7
14childhood type dermatomyositis10.7
15neonatal dermatomyositis10.7
16myotonic dystrophy 210.7
17wolfram syndrome10.7
18familial idiopathic steroid-resistant nephrotic syndrome with minimal changes10.5PLCE1, WT1
19liver sarcoma10.4PAX2, WT1
20mucinous adenofibroma10.2PAX2, WT1
21keratosis follicularis, dwarfism, and cerebral atrophy10.2LAMC1, PAX2, WT1
22sclerosing hemangioma10.0PAX2, WT1
23microcephaly9.9
24vitreous abscess9.9PDGFA, TGFB1
25pfeiffer syndrome type 39.9ARHGDIA, NPHS1, PLCE1, WT1
26agammaglobulinemia 69.8NPHS1, TGFB1
27breast cancer9.8
28multiple myeloma9.8
29kawasaki disease9.8
30cataract9.8
31dyskeratosis congenita9.8
32pfeiffer syndrome type 29.7NPHS1, NPHS2
33spastic monoplegia9.6NPHS1, NPHS2
34suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.6NPHS1, NPHS2, WT1
35corneal dystrophy, fuchs endothelial, 89.5LAMB2, NPHS1, NPHS2
36stomatitis9.5NPHS1, NPHS2, TGFB1
37hypopigmentation of eyelid9.4NPHS1, NPHS2, TGFB1
38granuloma annulare9.4NPHS1, NPHS2, TGFB1
39vipoma9.3NPHS1, NPHS2, TGFB1
40hyperbiliverdinemia9.3NPHS1, NPHS2, PAX2, WT1
41exocrine pancreatic insufficiency9.3NPHS1, NPHS2, TGFB1, WT1
42female stress incontinence9.2LAMB2, NPHS1, NPHS2, PLCE1, WT1
43ulnar hemimelia9.2NPHS1, NPHS2, PAX2, PLCE1, WT1
44gas gangrene9.1LAMB2, NPHS1, NPHS2, PAX2, WT1
45coronary thrombosis8.9ARHGDIA, LAMB2, NPHS1, NPHS2, PLCE1, WT1
46meacham syndrome8.9LAMB2, NPHS1, NPHS2, PDGFA, WT1
47chronic venous insufficiency8.9LAMB2, NPHS1, NPHS2, PAX2, PLCE1, WT1
48unna-thost palmoplantar keratoderma7.2AGRN, ARHGDIA, KRBOX4, LAMB1, LAMB2, LAMC1

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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Interventional clinical trials:

Search ClinicalTrials, 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 Sclerosis26
2 Diffuse Mesangial Sclerosis Syndromes (dms)24 WT1
3 Isolated Diffuse Mesangial Sclerosis24 WT1

Anatomical Context for Diffuse Mesangial Sclerosis

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MalaCards organs/tissues related to Diffuse Mesangial Sclerosis:

35
Brain

Animal Models for Diffuse Mesangial Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Diffuse Mesangial Sclerosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5AGRN, LAMC1, PDGFA, PLCE1, TGFB1, WT1
2MP:00053857.7AGRN, ARHGDIA, LAMC1, NPHS2, PAX2, PDGFA
3MP:00053767.4AGRN, ARHGDIA, LAMB2, LAMC1, NPHS1, NPHS2
4MP:00107686.9AGRN, ARHGDIA, LAMB1, LAMB2, LAMC1, NPHS1
5MP:00053676.5AGRN, ARHGDIA, LAMB2, LAMC1, NPHS1, NPHS2

Publications for Diffuse Mesangial Sclerosis

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Articles related to Diffuse Mesangial Sclerosis:

(show all 38)
idTitleAuthorsYear
1
Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease. (27904002)
2016
2
AJKD Atlas of Renal Pathology: Diffuse Mesangial Sclerosis. (26408240)
2015
3
Glomerular epithelial cell phenotype in diffuse mesangial sclerosis: a report of 2 cases with markedly increased urinary podocyte excretion. (24856573)
2014
4
Diffuse mesangial sclerosis - Report of two cases. (23087559)
2012
5
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. (21365190)
2011
6
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. (19037252)
2009
7
Evolutive study of children with diffuse mesangial sclerosis. (19066977)
2009
8
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). (18065803)
2008
9
Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. (16523262)
2006
10
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. (16479084)
2006
11
Congenital nephrotic syndrome: report of an infant with diffuse mesangial sclerosis. (14964988)
2003
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
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. (11241056)
2001
15
Immunohistochemical analysis of molecular events in tubulo-interstitial fibrosis in a mouse model of diffuse mesangial sclerosis (ICGN strain). (11307931)
2001
16
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. (10805477)
2000
17
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. (9916932)
1999
18
Nephrotic mice (ICGN strain): a model of diffuse mesangial sclerosis in infantile nephrotic syndrome. (10085455)
1999
19
Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement. (9894834)
1998
20
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
21
Isolated diffuse mesangial sclerosis in three siblings. (9546709)
1998
22
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
23
Diffuse mesangial sclerosis: a unique type of congenital and infantile nephrotic syndrome. (8684541)
1996
24
Congenital nephrotic syndrome, diffuse mesangial sclerosis, and bilateral cataract. (8971891)
1996
25
Hypoplastic tubules occurring in diffuse mesangial sclerosis. (8970202)
1996
26
Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy? (7794729)
1995
27
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. (8182716)
1994
28
Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. (8381254)
1993
29
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
30
Diffuse mesangial sclerosis in a fetus. (1889151)
1991
31
Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis. (1911117)
1991
32
Congenital/infantile nephrotic syndrome with diffuse mesangial sclerosis: relationship with Drash syndrome. (2762352)
1989
33
Clinicopathological quiz. Wilms' tumour with renal failure due to diffuse mesangial sclerosis. (2856390)
1987
34
Diffuse mesangial sclerosis--light, immunofluorescent and electronmicroscopy findings. (3897087)
1985
35
Nephrotic syndrome with diffuse mesangial sclerosis in identical twins. (6682143)
1983
36
Diffuse mesangial sclerosis and ocular abnormalities in two siblings. (6809680)
1982
37
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. (7180443)
1982
38
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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Clinvar genetic disease variations for Diffuse Mesangial Sclerosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WT1NM_024426.4(WT1): c.1384C> T (p.Arg462Trp)SNVPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
2WT1NM_024426.4(WT1): c.1390G> A (p.Asp464Asn)SNVPathogenicrs28941778GRCh37Chr 11, 32413560: 32413560
3WT1NM_024426.4(WT1): c.1333C> T (p.His445Tyr)SNVPathogenicrs28942089GRCh37Chr 11, 32414218: 32414218
4WT1NM_024426.4(WT1): c.1432+4C> TSNVPathogenicrs587776577GRCh38Chr 11, 32391968: 32391968

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 19)
idSuper pathwaysScoreTop Affiliating Genes
19.9NPHS1, NPHS2
29.4PAX2, TGFB1, WT1
39.4LAMB1, LAMB2, LAMC1
49.4LAMB1, LAMB2, LAMC1
59.4LAMB1, LAMB2, LAMC1
6
Show member pathways
9.4AGRN, LAMB2, LAMC1
79.2LAMB1, LAMC1, TGFB1
89.1PDGFA, TGFB1
9
Show member pathways
9.0AGRN, LAMB1, LAMB2, LAMC1
10
Show member pathways
8.9LAMB1, LAMB2, LAMC1, TGFB1
118.9LAMB1, LAMB2, LAMC1, TGFB1
128.9PDGFA, TGFB1, WT1
138.6LAMB1, LAMB2, LAMC1, PDGFA
148.5ARHGDIA, PDGFA, PLCE1, TGFB1
158.4AGRN, LAMB1, LAMB2, LAMC1, TGFB1
168.1LAMB1, LAMB2, LAMC1, PDGFA, TGFB1
17
Show member pathways
7.8LAMB1, LAMB2, LAMC1, PDGFA, PLCE1, TGFB1
18
Show member pathways
7.6AGRN, LAMB1, LAMB2, LAMC1, PDGFA, TGFB1
19
Show member pathways
7.6AGRN, LAMB1, LAMB2, LAMC1, PDGFA, TGFB1

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:004326010.5LAMB2, LAMC1
2slit diaphragmGO:003605710.5NPHS1, NPHS2
3laminin-1 complexGO:000560610.4LAMB1, LAMC1
4laminin-10 complexGO:004325910.4LAMB1, LAMC1
5basal laminaGO:000560510.0AGRN, LAMB2
6basement membraneGO:00056049.9LAMB1, LAMB2, LAMC1
7extracellular matrixGO:00310128.3AGRN, LAMB1, LAMB2, LAMC1, TGFB1
8extracellular regionGO:00055767.6AGRN, LAMB1, LAMB2, LAMC1, PDGFA, TGFB1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glomerulus developmentGO:003283510.6PLCE1, WT1
2metanephric glomerular visceral epithelial cell developmentGO:007224910.6LAMB2, NPHS2
3metanephric epithelium developmentGO:007220710.6PAX2, WT1
4metanephric mesenchyme developmentGO:007207510.6PAX2, WT1
5mesenchymal to epithelial transitionGO:006023110.5PAX2, WT1
6glomerular basement membrane developmentGO:003283610.4NPHS1, WT1
7positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3PAX2, TGFB1
8regulation of actin cytoskeleton reorganizationGO:200024910.0ARHGDIA, TGFB1
9endoderm developmentGO:00074929.8LAMC1, TGFB1
10cell activationGO:00017759.6PDGFA, TGFB1
11cell adhesionGO:00071559.1LAMB1, LAMB2, LAMC1, NPHS1
12positive regulation of epithelial cell proliferationGO:00506799.1LAMB1, LAMC1, PAX2, TGFB1
13positive regulation of cell migrationGO:00303358.6LAMB1, PDGFA, TGFB1
14extracellular matrix organizationGO:00301988.2AGRN, LAMB1, LAMB2, LAMC1, PDGFA

Sources for Diffuse Mesangial Sclerosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet