MCID: DFF021
MIFTS: 40

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 46 66
Diffuse Mesangial Sclerosis Syndromes 23 25
Isolated Diffuse Mesangial Sclerosis 46 23
Mesangial Sclerosis, Diffuse 46 48
Familial Mesangial Sclerosis 46 66
 
Nephrotic Syndrome, Early Onset with Diffuse Mesangial Sclerosis 46
Diffuse Isolated Mesangial Sclerosis 46
Idms 23
Dms 46

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 nephrotic syndrome, type 4 and pierson syndrome. An important gene associated with Diffuse Mesangial Sclerosis is WT1 (Wilms Tumor 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Cell adhesion_Cell-matrix glycoconjugates. Affiliated tissues include brain, and related mouse phenotypes are reproductive system and embryo.

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 58)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome, type 432.2PAX2, PDGFA, WT1
2pierson syndrome30.8LAMB1, LAMB2
3sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis12.2
4familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis12.2
5dermatomyositis11.4
6myotonic dystrophy 111.2
7epidermolysis bullosa simplex, dowling-meara type11.2
8diaphyseal medullary stenosis with malignant fibrous histiocytoma10.9
9childhood type dermatomyositis10.9
10neonatal dermatomyositis10.9
11denys-drash syndrome10.8
12rheumatoid arthritis10.6
13maturity-onset diabetes of the young10.5
14familial idiopathic steroid-resistant nephrotic syndrome with minimal changes10.5PLCE1, WT1
15diabetes insipidus10.5
16nephrotic syndrome10.4
17nephrotic syndrome, type 310.4
18liver sarcoma10.3PAX2, WT1
19pfeiffer syndrome type 310.3ARHGDIA, PLCE1, WT1
20female stress incontinence10.3LAMB2, PLCE1, WT1
21myotonic dystrophy10.3
22ulnar hemimelia10.2PAX2, PLCE1, WT1
23nephrotic syndrome, type 810.2
24sclerosing hemangioma10.1PAX2, WT1
25keratosis follicularis, dwarfism, and cerebral atrophy10.1LAMC1, PAX2, WT1
26gas gangrene10.1LAMB2, PAX2, WT1
27microcephaly10.0
28hepatitis c virus10.0
29arthritis10.0
30chronic venous insufficiency9.9LAMB2, PAX2, PLCE1, WT1
31coronary thrombosis9.9ARHGDIA, LAMB2, PLCE1, WT1
32mucinous adenofibroma9.9PAX2, WT1
33neuropathy9.9
34meacham syndrome9.9LAMB2, PDGFA, WT1
35breast cancer9.9
36multiple myeloma9.9
37myeloma9.9
38benign neonatal seizures9.9PAX2, TGFB1
39kawasaki disease9.9
40cataract9.9
41h. pylori infection9.8
42muscular dystrophy-dystroglycanopathy , type c, 59.8
43duchenne muscular dystrophy9.8
44calpainopathy9.8
45osteoarthritis9.8
46pulmonary emphysema9.8
47influenza9.8
48autonomic neuropathy9.8
49dermatitis9.8
50interstitial lung disease9.8

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 Sclerosis25
2 Diffuse Mesangial Sclerosis Syndromes (dms)23 WT1
3 Isolated Diffuse Mesangial Sclerosis23 WT1

Anatomical Context for Diffuse Mesangial Sclerosis

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MalaCards organs/tissues related to Diffuse Mesangial Sclerosis:

34
Brain

Animal Models for Diffuse Mesangial Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Diffuse Mesangial Sclerosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4ARHGDIA, LAMC1, PAX2, PDGFA, TGFB1, WT1
2MP:00053808.3LAMB1, LAMC1, PAX2, PDGFA, TGFB1, WT1
3MP:00053698.3AGRN, LAMC1, PDGFA, PLCE1, TGFB1, WT1
4MP:00053677.4AGRN, ARHGDIA, LAMB2, LAMC1, PAX2, PDGFA
5MP:00053857.1AGRN, ARHGDIA, LAMC1, PAX2, PDGFA, PLCE1
6MP:00107686.9AGRN, ARHGDIA, LAMB1, LAMB2, LAMC1, PAX2

Publications for Diffuse Mesangial Sclerosis

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Articles related to Diffuse Mesangial Sclerosis:

(show all 37)
idTitleAuthorsYear
1
AJKD Atlas of Renal Pathology: Diffuse Mesangial Sclerosis. (26408240)
2015
2
Glomerular epithelial cell phenotype in diffuse mesangial sclerosis: a report of 2 cases with markedly increased urinary podocyte excretion. (24856573)
2014
3
Diffuse mesangial sclerosis - Report of two cases. (23087559)
2012
4
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. (21365190)
2011
5
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. (19037252)
2009
6
Evolutive study of children with diffuse mesangial sclerosis. (19066977)
2009
7
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). (18065803)
2008
8
Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. (16523262)
2006
9
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. (16479084)
2006
10
Congenital nephrotic syndrome: report of an infant with diffuse mesangial sclerosis. (14964988)
2003
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
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. (11241056)
2001
14
Immunohistochemical analysis of molecular events in tubulo-interstitial fibrosis in a mouse model of diffuse mesangial sclerosis (ICGN strain). (11307931)
2001
15
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. (10805477)
2000
16
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. (9916932)
1999
17
Nephrotic mice (ICGN strain): a model of diffuse mesangial sclerosis in infantile nephrotic syndrome. (10085455)
1999
18
Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement. (9894834)
1998
19
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
20
Isolated diffuse mesangial sclerosis in three siblings. (9546709)
1998
21
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
22
Diffuse mesangial sclerosis: a unique type of congenital and infantile nephrotic syndrome. (8684541)
1996
23
Congenital nephrotic syndrome, diffuse mesangial sclerosis, and bilateral cataract. (8971891)
1996
24
Hypoplastic tubules occurring in diffuse mesangial sclerosis. (8970202)
1996
25
Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy? (7794729)
1995
26
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. (8182716)
1994
27
Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. (8381254)
1993
28
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
29
Diffuse mesangial sclerosis in a fetus. (1889151)
1991
30
Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis. (1911117)
1991
31
Congenital/infantile nephrotic syndrome with diffuse mesangial sclerosis: relationship with Drash syndrome. (2762352)
1989
32
Clinicopathological quiz. Wilms' tumour with renal failure due to diffuse mesangial sclerosis. (2856390)
1987
33
Diffuse mesangial sclerosis--light, immunofluorescent and electronmicroscopy findings. (3897087)
1985
34
Nephrotic syndrome with diffuse mesangial sclerosis in identical twins. (6682143)
1983
35
Diffuse mesangial sclerosis and ocular abnormalities in two siblings. (6809680)
1982
36
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. (7180443)
1982
37
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 21)
idSuper pathwaysScoreTop Affiliating Genes
19.7LAMB1, LAMC1
29.7LAMB1, LAMC1
39.5PDGFA, TGFB1
49.4PAX2, TGFB1, WT1
59.4LAMB1, LAMB2, LAMC1
6
Show member pathways
9.4LAMB1, LAMB2, LAMC1
79.4LAMB1, LAMB2, LAMC1
8
Show member pathways
9.3AGRN, LAMB2, LAMC1
99.2LAMB1, LAMC1, TGFB1
109.2PDGFA, TGFB1, WT1
11
Show member pathways
8.9LAMB1, LAMB2, LAMC1, TGFB1
128.9LAMB1, LAMB2, LAMC1, TGFB1
138.9ARHGDIA, PDGFA, PLCE1, TGFB1
14
Show member pathways
8.9AGRN, LAMB1, LAMB2, LAMC1
15
Show member pathways
8.9LAMB1, LAMB2, LAMC1, PDGFA
168.9LAMB1, LAMB2, LAMC1, PDGFA
178.4AGRN, LAMB1, LAMB2, LAMC1, TGFB1
188.4LAMB1, LAMB2, LAMC1, PDGFA, TGFB1
19
Show member pathways
8.1LAMB1, LAMB2, LAMC1, PDGFA, PLCE1, TGFB1
20
Show member pathways
7.9AGRN, LAMB1, LAMB2, LAMC1, PDGFA, TGFB1
21
Show member pathways
7.9AGRN, 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
2laminin-1 complexGO:000560610.4LAMB1, LAMC1
3laminin-10 complexGO:004325910.4LAMB1, LAMC1
4basement membraneGO:00056049.9LAMB1, LAMB2, LAMC1
5basal laminaGO:00056059.9AGRN, LAMB2
6extracellular matrixGO:00310128.5AGRN, LAMB1, LAMB2, LAMC1, TGFB1
7extracellular regionGO:00055767.9AGRN, LAMB1, LAMB2, LAMC1, PDGFA, TGFB1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1glomerulus developmentGO:003283510.5PLCE1, WT1
2metanephric epithelium developmentGO:007220710.5PAX2, WT1
3metanephric mesenchyme developmentGO:007207510.5PAX2, WT1
4mesenchymal to epithelial transitionGO:006023110.4PAX2, WT1
5positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3PAX2, TGFB1
6substrate adhesion-dependent cell spreadingGO:003444610.3LAMB1, LAMC1
7protein kinase B signalingGO:004349110.3PAX2, TGFB1
8regulation of actin cytoskeleton reorganizationGO:200024910.2ARHGDIA, TGFB1
9endoderm developmentGO:000749210.1LAMC1, TGFB1
10cell activationGO:000177510.0PDGFA, TGFB1
11synapse organizationGO:00508089.9AGRN, LAMB2
12positive regulation of epithelial cell proliferationGO:00506799.2LAMB1, LAMC1, PAX2, TGFB1
13positive regulation of cell migrationGO:00303359.2LAMB1, PDGFA, TGFB1
14positive regulation of GTPase activityGO:00435478.7AGRN, ARHGDIA, PDGFA, PLCE1
15extracellular matrix organizationGO:00301988.6AGRN, LAMB1, LAMB2, LAMC1, PDGFA
16positive regulation of transcription from RNA polymerase II promoterGO:00459448.1AGRN, PAX2, STK16, TGFB1, WT1

Sources for Diffuse Mesangial Sclerosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet