MCID: DFF021
MIFTS: 36

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 49 28 69
Familial Mesangial Sclerosis 49 69
Mesangial Sclerosis, Diffuse 49 51
Nephrotic Syndrome, Early Onset with Diffuse Mesangial Sclerosis 49
Diffuse Isolated Mesangial Sclerosis 49
Isolated Diffuse Mesangial Sclerosis 49
Dms 49

Classifications:



External Ids:

Summaries for Diffuse Mesangial Sclerosis

MalaCards based summary : Diffuse Mesangial Sclerosis, also known as familial mesangial sclerosis, is related to sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis and familial 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)
# Related Disease Score Top Affiliating Genes
1 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 34.0 PLCE1 WT1
2 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 33.1 ARHGDIA NPHS1 PLCE1 WT1
3 pierson syndrome 31.7 LAMB1 LAMB2 NPHS2
4 denys-drash syndrome 31.0 NPHS1 NPHS2 PAX2 PDGFA WT1
5 nephrotic syndrome 29.2 ARHGDIA LAMB2 NPHS1 NPHS2 PLCE1 WT1
6 mesangial sclerosis, diffuse renal, with ocular abnormalities 12.2
7 nephrotic syndrome, type 4 12.1
8 myotonic dystrophy 1 11.8
9 nephrotic syndrome, type 3 11.4
10 maturity-onset diabetes of the young 11.3
11 diabetes insipidus 11.3
12 diabetes mellitus 11.2
13 neonatal dermatomyositis 11.2
14 dermatomyositis 11.1
15 nephrotic syndrome, type 8 11.1
16 epidermolysis bullosa simplex, dowling-meara type 11.1
17 diaphyseal medullary stenosis with malignant fibrous histiocytoma 10.9
18 childhood type dermatomyositis 10.9
19 myotonic dystrophy 2 10.8
20 wolfram syndrome 10.8
21 renal adenoma 10.3 PAX2 WT1
22 mayer-rokitansky-kuster-hauser syndrome 10.1 LAMC1 PAX2 WT1
23 hereditary wilms' tumor 10.1
24 microcephaly 10.0
25 fibrosis of extraocular muscles, congenital, 1 9.8
26 wilms tumor 5 9.8
27 kawasaki disease 9.8
28 wilms tumor 6 9.8
29 cataract 9.8
30 coenzyme q10 deficiency disease 9.8
31 dyskeratosis congenita 9.8
32 microvascular complications of diabetes 3 9.8 NPHS1 TGFB1
33 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 9.8 NPHS1 NPHS2
34 atrial septal defect 3 9.7 NPHS1 NPHS2
35 kidney hypertrophy 9.6 NPHS1 NPHS2
36 hypoparathyroidism, sensorineural deafness, and renal disease 9.6 LAMB2 NPHS1 NPHS2
37 nephrotic syndrome, type 1 9.6 NPHS1 NPHS2 WT1
38 galloway-mowat syndrome 9.6 LAMB2 NPHS1 NPHS2
39 familial nephrotic syndrome 9.5 NPHS1 NPHS2 PLCE1 WT1
40 wilms tumor 1 9.4 KRBOX4 NPHS2 WT1
41 urinary system disease 9.4 NPHS1 NPHS2 TGFB1
42 iga glomerulonephritis 9.4 NPHS1 NPHS2 TGFB1
43 glomerulonephritis 9.4 NPHS1 NPHS2 TGFB1
44 lipoid nephrosis 9.4 NPHS1 NPHS2
45 kidney disease 9.3 NPHS1 NPHS2 PAX2 WT1
46 focal segmental glomerulosclerosis 1 9.3 NPHS1 NPHS2 PAX2 PLCE1 WT1
47 end stage renal failure 9.2 NPHS1 NPHS2 PLCE1 TGFB1 WT1
48 frasier syndrome 9.1 NPHS1 NPHS2 PDGFA PLCE1 WT1
49 focal segmental glomerulosclerosis 8.8 LAMB2 NPHS1 NPHS2 PAX2 PLCE1 TGFB1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 PLCE1 TGFB1 WT1 AGRN ARHGDIA LAMC1
2 homeostasis/metabolism MP:0005376 9.96 PLCE1 TGFB1 WT1 AGRN ARHGDIA LAMB2
3 mortality/aging MP:0010768 9.9 AGRN ARHGDIA LAMB1 LAMB2 LAMC1 NPHS1
4 muscle MP:0005369 9.5 AGRN LAMB1 LAMC1 PDGFA PLCE1 TGFB1
5 renal/urinary system MP:0005367 9.32 AGRN ARHGDIA LAMB2 LAMC1 NPHS1 NPHS2

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:

# Genetic test Affiliating Genes
1 Diffuse Mesangial Sclerosis 28 WT1

Anatomical Context for Diffuse Mesangial Sclerosis

MalaCards organs/tissues related to Diffuse Mesangial Sclerosis:

38
Brain

Publications for Diffuse Mesangial Sclerosis

Articles related to Diffuse Mesangial Sclerosis:

(show all 39)
# Title Authors Year
1
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency. ( 29032433 )
2018
2
Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease. ( 27904002 )
2016
3
AJKD Atlas of Renal Pathology: Diffuse Mesangial Sclerosis. ( 26408240 )
2015
4
Glomerular epithelial cell phenotype in diffuse mesangial sclerosis: a report of 2 cases with markedly increased urinary podocyte excretion. ( 24856573 )
2014
5
Diffuse mesangial sclerosis - Report of two cases. ( 23087559 )
2012
6
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. ( 21365190 )
2011
7
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. ( 19037252 )
2009
8
Evolutive study of children with diffuse mesangial sclerosis. ( 19066977 )
2009
9
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). ( 18065803 )
2008
10
Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. ( 16523262 )
2006
11
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. ( 16479084 )
2006
12
Congenital nephrotic syndrome: report of an infant with diffuse mesangial sclerosis. ( 14964988 )
2003
13
Diffuse mesangial sclerosis presenting as infantile nephrotic syndrome. ( 11418734 )
2001
14
Immunohistochemical analysis of molecular events in tubulo-interstitial fibrosis in a mouse model of diffuse mesangial sclerosis (ICGN strain). ( 11307931 )
2001
15
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. ( 11241056 )
2001
16
Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis. ( 11405118 )
2001
17
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. ( 10805477 )
2000
18
Nephrotic mice (ICGN strain): a model of diffuse mesangial sclerosis in infantile nephrotic syndrome. ( 10085455 )
1999
19
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. ( 9916932 )
1999
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: association with unreported congenital anomalies and placental enlargement. ( 9894834 )
1998
23
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
24
Diffuse mesangial sclerosis: a unique type of congenital and infantile nephrotic syndrome. ( 8684541 )
1996
25
Hypoplastic tubules occurring in diffuse mesangial sclerosis. ( 8970202 )
1996
26
Congenital nephrotic syndrome, diffuse mesangial sclerosis, and bilateral cataract. ( 8971891 )
1996
27
Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy? ( 7794729 )
1995
28
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. ( 8182716 )
1994
29
Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. ( 8381254 )
1993
30
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
31
Diffuse mesangial sclerosis in a fetus. ( 1889151 )
1991
32
Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis. ( 1911117 )
1991
33
Congenital/infantile nephrotic syndrome with diffuse mesangial sclerosis: relationship with Drash syndrome. ( 2762352 )
1989
34
Clinicopathological quiz. Wilms' tumour with renal failure due to diffuse mesangial sclerosis. ( 2856390 )
1987
35
Diffuse mesangial sclerosis--light, immunofluorescent and electronmicroscopy findings. ( 3897087 )
1985
36
Nephrotic syndrome with diffuse mesangial sclerosis in identical twins. ( 6682143 )
1983
37
Diffuse mesangial sclerosis and ocular abnormalities in two siblings. ( 6809680 )
1982
38
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. ( 7180443 )
1982
39
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
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 LAMB1 LAMB2 LAMC1 PDGFA PLCE1 TGFB1
2 12.63 LAMB1 LAMB2 LAMC1 PDGFA TGFB1
3
Show member pathways
12.45 AGRN LAMB1 LAMB2 LAMC1 PDGFA TGFB1
4
Show member pathways
12.07 LAMB1 LAMB2 LAMC1 TGFB1
5
Show member pathways
11.97 LAMB1 LAMB2 LAMC1 PLCE1
6
Show member pathways
11.91 AGRN LAMB1 LAMB2 LAMC1
7
Show member pathways
11.88 AGRN LAMB2 LAMC1
8 11.84 PAX2 TGFB1 WT1
9 11.67 LAMB1 LAMB2 LAMC1
10 11.65 LAMB1 LAMB2 LAMC1 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 11.1 LAMB1 LAMB2 LAMC1
15 11.09 AGRN LAMB2 NPHS1 NPHS2 PAX2 PLCE1
16 11.05 PDGFA TGFB1
17 10.97 NPHS1 NPHS2
18 10.7 ARHGDIA LAMB1 LAMB2 LAMC1 PDGFA PLCE1

GO Terms for Diffuse Mesangial Sclerosis

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

# 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 extracellular matrix GO:0031012 9.35 AGRN LAMB1 LAMB2 LAMC1 TGFB1
7 laminin-1 complex GO:0005606 9.32 LAMB1 LAMC1
8 laminin-10 complex GO:0043259 9.26 LAMB1 LAMC1
9 laminin-11 complex GO:0043260 9.16 LAMB2 LAMC1
10 proteinaceous extracellular matrix GO:0005578 9.02 AGRN LAMB1 LAMB2 LAMC1 TGFB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 endoderm development GO:0007492 9.51 LAMC1 TGFB1
2 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.49 PAX2 TGFB1
3 regulation of actin cytoskeleton reorganization GO:2000249 9.48 ARHGDIA TGFB1
4 cell activation GO:0001775 9.46 PDGFA TGFB1
5 glomerulus development GO:0032835 9.43 PLCE1 WT1
6 glomerular basement membrane development GO:0032836 9.4 NPHS1 WT1
7 mesenchymal to epithelial transition GO:0060231 9.37 PAX2 WT1
8 extracellular matrix organization GO:0030198 9.35 AGRN LAMB1 LAMB2 LAMC1 PDGFA
9 metanephric mesenchyme development GO:0072075 9.32 PAX2 WT1
10 metanephric epithelium development GO:0072207 9.26 PAX2 WT1
11 metanephric glomerular visceral epithelial cell development GO:0072249 9.16 LAMB2 NPHS2
12 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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