MCID: DFF021
MIFTS: 37

Diffuse Mesangial Sclerosis

Categories: Rare diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Diffuse Mesangial Sclerosis

MalaCards integrated aliases for Diffuse Mesangial Sclerosis:

Name: Diffuse Mesangial Sclerosis 50 29 69
Isolated Diffuse Mesangial Sclerosis 50 24
Familial Mesangial Sclerosis 50 69
Mesangial Sclerosis, Diffuse 50 52
Nephrotic Syndrome, Early Onset with Diffuse Mesangial Sclerosis 50
Diffuse Mesangial Sclerosis Syndromes 24
Diffuse Isolated Mesangial Sclerosis 50
Idms 24
Dms 50

Classifications:



Summaries for Diffuse Mesangial Sclerosis

MalaCards based summary : Diffuse Mesangial Sclerosis, also known as isolated diffuse mesangial sclerosis, is related to nephrotic syndrome, type 4 and sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis. An important gene associated with Diffuse Mesangial Sclerosis is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Pathways in cancer. Affiliated tissues include brain, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Diffuse Mesangial Sclerosis

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

(show all 49)
id Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 4 30.8 NPHS1 NPHS2 PAX2 PDGFA WT1
2 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 12.1
3 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 12.1
4 dermatomyositis 11.5
5 denys-drash syndrome 11.5
6 myotonic dystrophy 1 11.3
7 pierson syndrome 11.3
8 nephrotic syndrome, type 3 11.3
9 maturity-onset diabetes of the young 11.2
10 diabetes insipidus 11.2
11 epidermolysis bullosa simplex, dowling-meara type 11.1
12 nephrotic syndrome, type 8 11.0
13 diaphyseal medullary stenosis with malignant fibrous histiocytoma 10.8
14 childhood type dermatomyositis 10.8
15 neonatal dermatomyositis 10.8
16 myotonic dystrophy 2 10.7
17 wolfram syndrome 10.7
18 pfeiffer syndrome type 2 10.7 PLCE1 WT1
19 mucinous adenofibroma 10.5 PAX2 WT1
20 nephrotic syndrome 10.3
21 nodular tenosynovitis 10.3 PAX2 WT1
22 keratosis follicularis, dwarfism, and cerebral atrophy 10.3 LAMC1 PAX2 WT1
23 microcephaly 9.9
24 renal dysplasia 9.9 ARHGDIA NPHS1 PLCE1 WT1
25 retinitis pigmentosa 17 9.8 NPHS1 TGFB1
26 breast cancer 9.8
27 multiple myeloma 9.8
28 kawasaki disease 9.8
29 cataract 9.8
30 dyskeratosis congenita 9.8
31 renal hypoplasia 9.7 NPHS1 NPHS2
32 cholangitis, primary sclerosing 9.7 LAMB1 LAMB2 NPHS2
33 cardiomyopathy, dilated, 1ee 9.6 NPHS1 NPHS2
34 46xy sex reversal 8 9.6 LAMB2 NPHS1 NPHS2
35 congenital pulmonary alveolar proteinosis 9.5 NPHS1 NPHS2 WT1
36 sarcocystosis 9.5 NPHS1 NPHS2
37 female stress incontinence 9.3 NPHS1 NPHS2 PLCE1 WT1
38 prostate neuroendocrine neoplasm 9.3 NPHS1 NPHS2 TGFB1
39 calcinosis 9.3 NPHS1 NPHS2 TGFB1
40 granuloma annulare 9.2 NPHS1 NPHS2 TGFB1
41 spastic monoplegia 9.2 NPHS1 NPHS2
42 hyperbiliverdinemia 9.2 NPHS1 NPHS2 PAX2 WT1
43 exocrine pancreatic insufficiency 9.2 NPHS1 NPHS2 TGFB1 WT1
44 inhibited male orgasm 9.1 NPHS1 NPHS2 PAX2 WT1
45 hyperferritinemia-cataract syndrome 9.1 NPHS1 NPHS2 PAX2 PLCE1 WT1
46 meacham syndrome 8.8 NPHS1 NPHS2 PDGFA PLCE1 WT1
47 transient refractive change 8.8 ARHGDIA LAMB2 NPHS1 NPHS2 PLCE1 WT1
48 gas gangrene 8.4 LAMB2 NPHS1 NPHS2 PAX2 PLCE1 TGFB1
49 digestive system melanoma 5.4 AGRN ARHGDIA KRBOX4 LAMB1 LAMB2 LAMC1

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



Diseases related to Diffuse Mesangial Sclerosis

Symptoms & Phenotypes for Diffuse Mesangial Sclerosis

MGI Mouse Phenotypes related to Diffuse Mesangial Sclerosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 AGRN ARHGDIA LAMC1 NPHS2 PAX2 PDGFA
2 homeostasis/metabolism MP:0005376 9.96 LAMB2 LAMC1 NPHS1 NPHS2 PDGFA PLCE1
3 mortality/aging MP:0010768 9.9 AGRN ARHGDIA LAMB1 LAMB2 LAMC1 NPHS1
4 muscle MP:0005369 9.43 AGRN LAMC1 PDGFA PLCE1 TGFB1 WT1
5 renal/urinary system MP:0005367 9.32 NPHS1 NPHS2 PAX2 PDGFA TGFB1 WT1

Drugs & Therapeutics for Diffuse Mesangial Sclerosis

Search Clinical Trials , NIH Clinical Center for Diffuse Mesangial Sclerosis

Genetic Tests for Diffuse Mesangial Sclerosis

Genetic tests related to Diffuse Mesangial Sclerosis:

id Genetic test Affiliating Genes
1 Diffuse Mesangial Sclerosis 29
2 Diffuse Mesangial Sclerosis Syndromes (dms) 24 WT1
3 Isolated Diffuse Mesangial Sclerosis 24 WT1

Anatomical Context for Diffuse Mesangial Sclerosis

MalaCards organs/tissues related to Diffuse Mesangial Sclerosis:

39
Brain

Publications for Diffuse Mesangial Sclerosis

Articles related to Diffuse Mesangial Sclerosis:

(show all 38)
id Title Authors Year
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
Evolutive study of children with diffuse mesangial sclerosis. ( 19066977 )
2009
7
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. ( 19037252 )
2009
8
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). ( 18065803 )
2008
9
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. ( 16479084 )
2006
10
Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. ( 16523262 )
2006
11
Congenital nephrotic syndrome: report of an infant with diffuse mesangial sclerosis. ( 14964988 )
2003
12
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. ( 11241056 )
2001
13
Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis. ( 11405118 )
2001
14
Immunohistochemical analysis of molecular events in tubulo-interstitial fibrosis in a mouse model of diffuse mesangial sclerosis (ICGN strain). ( 11307931 )
2001
15
Diffuse mesangial sclerosis presenting as infantile nephrotic syndrome. ( 11418734 )
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
Isolated diffuse mesangial sclerosis in three siblings. ( 9546709 )
1998
21
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
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
Hypoplastic tubules occurring in diffuse mesangial sclerosis. ( 8970202 )
1996
24
Diffuse mesangial sclerosis: a unique type of congenital and infantile nephrotic syndrome. ( 8684541 )
1996
25
Congenital nephrotic syndrome, diffuse mesangial sclerosis, and bilateral cataract. ( 8971891 )
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
Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis. ( 1911117 )
1991
31
Diffuse mesangial sclerosis in a fetus. ( 1889151 )
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

ClinVar genetic disease variations for Diffuse Mesangial Sclerosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
2 WT1 NM_024426.4(WT1): c.1390G> A (p.Asp464Asn) single nucleotide variant Pathogenic rs28941778 GRCh37 Chromosome 11, 32413560: 32413560
3 WT1 NM_024426.4(WT1): c.1333C> T (p.His445Tyr) single nucleotide variant Pathogenic rs28942089 GRCh37 Chromosome 11, 32414218: 32414218
4 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh38 Chromosome 11, 32391968: 32391968
5 WT1 NM_024426.4(WT1): c.1351T> C (p.Phe451Leu) single nucleotide variant Pathogenic rs28941777 GRCh37 Chromosome 11, 32413599: 32413599

Expression for Diffuse Mesangial Sclerosis

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

Pathways for Diffuse Mesangial Sclerosis

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

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 LAMB1 LAMB2 LAMC1 PDGFA PLCE1 TGFB1
2 12.43 LAMB1 LAMB2 LAMC1 PDGFA TGFB1
3
Show member pathways
12.39 AGRN LAMB1 LAMB2 LAMC1 PDGFA TGFB1
4
Show member pathways
12.07 LAMB1 LAMB2 LAMC1 TGFB1
5
Show member pathways
11.95 AGRN LAMB2 LAMC1
6
Show member pathways
11.88 AGRN LAMB1 LAMB2 LAMC1
7 11.84 PAX2 TGFB1 WT1
8 11.61 LAMB1 LAMB2 LAMC1
9 11.6 LAMB1 LAMB2 LAMC1 TGFB1
10 11.52 ARHGDIA PDGFA PLCE1 TGFB1
11 11.34 LAMB1 LAMC1 TGFB1
12 11.31 AGRN LAMB1 LAMB2 LAMC1 TGFB1
13
Show member pathways
11.26 AGRN LAMB1 LAMB2 LAMC1 PDGFA TGFB1
14 11.09 AGRN LAMB2 NPHS1 NPHS2 PAX2 PLCE1
15 11.06 LAMB1 LAMB2 LAMC1
16 11.04 PDGFA TGFB1
17 10.97 NPHS1 NPHS2

GO Terms for Diffuse Mesangial Sclerosis

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.73 LAMB1 LAMB2 LAMC1 PDGFA
2 Golgi lumen GO:0005796 9.63 AGRN PDGFA TGFB1
3 basement membrane GO:0005604 9.58 LAMB1 LAMB2 LAMC1
4 basal lamina GO:0005605 9.48 AGRN LAMB2
5 slit diaphragm GO:0036057 9.37 NPHS1 NPHS2
6 proteinaceous extracellular matrix GO:0005578 9.35 AGRN LAMB1 LAMB2 LAMC1 TGFB1
7 laminin-11 complex GO:0043260 9.32 LAMB2 LAMC1
8 laminin-10 complex GO:0043259 9.26 LAMB1 LAMC1
9 laminin-1 complex GO:0005606 9.16 LAMB1 LAMC1
10 extracellular matrix GO:0031012 9.02 AGRN LAMB1 LAMB2 LAMC1 TGFB1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 protein kinase B signaling GO:0043491 9.52 PAX2 TGFB1
2 endoderm development GO:0007492 9.51 LAMC1 TGFB1
3 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.49 PAX2 TGFB1
4 regulation of actin cytoskeleton reorganization GO:2000249 9.48 ARHGDIA TGFB1
5 cell activation GO:0001775 9.46 PDGFA TGFB1
6 glomerular basement membrane development GO:0032836 9.43 NPHS1 WT1
7 glomerulus development GO:0032835 9.4 PLCE1 WT1
8 mesenchymal to epithelial transition GO:0060231 9.37 PAX2 WT1
9 extracellular matrix organization GO:0030198 9.35 AGRN LAMB1 LAMB2 LAMC1 PDGFA
10 metanephric mesenchyme development GO:0072075 9.32 PAX2 WT1
11 metanephric epithelium development GO:0072207 9.26 PAX2 WT1
12 metanephric glomerular visceral epithelial cell development GO:0072249 9.16 LAMB2 NPHS2
13 positive regulation of epithelial cell proliferation GO:0050679 8.92 LAMB1 LAMC1 PAX2 TGFB1

Sources for Diffuse Mesangial Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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