DMS
MCID: DFF021
MIFTS: 39

Diffuse Mesangial Sclerosis (DMS)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Diffuse Mesangial Sclerosis

MalaCards integrated aliases for Diffuse Mesangial Sclerosis:

Name: Diffuse Mesangial Sclerosis 20 70
Familial Mesangial Sclerosis 20 6 70
Mesangial Sclerosis, Diffuse 20 54
Nephrotic Syndrome, Early Onset with Diffuse Mesangial Sclerosis 20
Diffuse Isolated Mesangial Sclerosis 20
Isolated Diffuse Mesangial Sclerosis 20
Dms 20

Classifications:



External Ids:

UMLS 70 C0268747 C3489732

Summaries for Diffuse Mesangial Sclerosis

MalaCards based summary : Diffuse Mesangial Sclerosis, also known as familial mesangial sclerosis, is related to nephrotic syndrome, type 4 and pierson syndrome. An important gene associated with Diffuse Mesangial Sclerosis is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways are Phospholipase-C Pathway and Pathways in cancer. Affiliated tissues include eye, and related phenotypes are homeostasis/metabolism and cardiovascular system

Related Diseases for Diffuse Mesangial Sclerosis

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 4 32.6 WT1 LOC107982234
2 pierson syndrome 30.9 WT1 PLCE1 NPHS2 NPHS1 LAMB2 LAMB1
3 denys-drash syndrome 30.5 WT1 PLCE1 PDGFA PAX2 NPHS2 NPHS1
4 familial nephrotic syndrome 30.0 WT1 PLCE1 NPHS2 NPHS1
5 aniridia 1 29.9 WT1 PAX2 LOC107982234
6 nephrotic syndrome 29.9 WT1 PLCE1 PAX2 NPHS2 NPHS1 LAMB2
7 galloway-mowat syndrome 29.6 PLCE1 NPHS2 NPHS1 LAMB2
8 end stage renal disease 29.3 TGFB1 PAX2 NPHS2 NPHS1
9 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 29.3 WT1 NPHS2 NPHS1 LOC107982234
10 glomerulonephritis 29.3 TGFB1 NPHS2 NPHS1
11 microvascular complications of diabetes 3 29.1 TGFB1 NPHS1
12 kidney disease 29.1 WT1 TGFB1 PAX2 NPHS2 NPHS1
13 frasier syndrome 29.1 WT1 PLCE1 PAX2 NPHS2 NPHS1 LOC107982234
14 genetic steroid-resistant nephrotic syndrome 28.5 WT1 PLCE1 PAX2 NPHS2 NPHS1 LOC107982234
15 wilms tumor 1 28.3 WT1 PDGFA PAX2 NPHS2 NPHS1 LOC107982234
16 nephrotic syndrome, type 3 11.5
17 nephrotic syndrome, type 21 11.4
18 nephrotic syndrome, type 8 11.2
19 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.0
20 myotonic dystrophy 10.9
21 epididymal neoplasm 10.3 WT1 PAX2
22 renal adenoma 10.3 WT1 PAX2
23 focal segmental glomerulosclerosis 7 10.2 PAX2 LAMB2
24 bladder clear cell adenocarcinoma 10.2 WT1 PAX2
25 endosalpingiosis 10.2 WT1 PAX2
26 epididymis adenocarcinoma 10.2 WT1 PAX2
27 epididymis cancer 10.2 WT1 PAX2
28 neuroblastoma 10.2
29 proteinuria, chronic benign 10.2
30 microcephaly 10.2
31 pseudohermaphroditism 10.2
32 mayer-rokitansky-kuster-hauser syndrome 10.1 WT1 PAX2 LAMC1
33 meacham syndrome 10.1 WT1 LOC107982234
34 kidney benign neoplasm 10.1 WT1 PAX2
35 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.1 LAMC1 LAMB1
36 benign mesothelioma 10.0
37 malignant pleural mesothelioma 10.0
38 megalocornea 10.0
39 mesangial sclerosis, diffuse renal, with ocular abnormalities 10.0
40 galloway-mowat syndrome 1 10.0
41 retinitis pigmentosa 10.0
42 branchiootic syndrome 1 10.0
43 kawasaki disease 10.0
44 coenzyme q10 deficiency disease 10.0
45 human cytomegalovirus infection 10.0
46 sensorineural hearing loss 10.0
47 neuroretinitis 10.0
48 hydrocephalus 10.0
49 retinal microaneurysm 10.0
50 hypertrophic cardiomyopathy 10.0

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 AGRN ARHGDIA LAMB2 LAMC1 NPHS1 NPHS2
2 cardiovascular system MP:0005385 10.02 AGRN ARHGDIA LAMC1 NPHS2 PAX2 PDGFA
3 mortality/aging MP:0010768 10 AGRN ARHGDIA LAMB1 LAMB2 LAMC1 NPHS1
4 muscle MP:0005369 9.7 AGRN LAMB1 LAMC1 PDGFA PLCE1 TGFB1
5 nervous system MP:0003631 9.61 AGRN LAMB1 LAMB2 LAMC1 NPHS1 PAX2
6 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

Anatomical Context for Diffuse Mesangial Sclerosis

MalaCards organs/tissues related to Diffuse Mesangial Sclerosis:

40
Eye

Publications for Diffuse Mesangial Sclerosis

Articles related to Diffuse Mesangial Sclerosis:

(show top 50) (show all 185)
# Title Authors PMID Year
1
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. 61 6 54
9529364 1998
2
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 6 61
9607189 1998
3
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 61 6
9398852 1997
4
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. 6
31937884 2020
5
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. 6
30963316 2019
6
Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. 6
27300205 2017
7
Early recognition of gonadal dysgenesis in congenital nephrotic syndrome
. 6
27719739 2016
8
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 6
17853480 2007
9
An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. 6
12050205 2002
10
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. 6
10094551 1999
11
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 6
9499425 1998
12
A clinical overview of WT1 gene mutations. 6
9090524 1997
13
Inherited WT1 mutation in Denys-Drash syndrome. 6
1327525 1992
14
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 6
1338906 1992
15
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 6
1302008 1992
16
Alternative splicing and genomic structure of the Wilms tumor gene WT1. 6
1658787 1991
17
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 6
1655284 1991
18
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 6
6307071 1983
19
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 54 61
20150449 2010
20
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1. 61 54
19205749 2009
21
Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis. 61 54
18462046 2008
22
WT1 and glomerular diseases. 54 61
16927106 2006
23
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. 61 54
16479084 2006
24
Respiratory chain deficiency presenting as congenital nephrotic syndrome. 61 54
15682315 2005
25
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 54 61
15780077 2005
26
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. 61 54
15253708 2004
27
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. 54 61
15150775 2004
28
Embryonal hyperplasia of Bowman's capsular epithelium in patients with WT1 mutations. 61 54
12488983 2003
29
Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis. 61 54
11405118 2001
30
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. 54 61
11241056 2001
31
Hemolytic uremic syndrome associated with Denys-Drash syndrome. 54 61
11045393 2000
32
Nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years. 54 61
10603123 1999
33
Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome. 54 61
10586431 1999
34
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. 61 54
10505700 1999
35
The Wilms tumour gene, WT1, in normal and abnormal nephrogenesis. 54 61
10460515 1999
36
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. 61 54
9916932 1999
37
[What's new in pediatric nephrology?]. 54 61
9809157 1998
38
Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy? 61 54
7794729 1995
39
Neurological involvement in monogenic podocytopathies. 61
33791874 2021
40
Comparing the renoprotective effects of the antioxidants melatonin, vitamin D and vitamin E in diabetic rats. 61
33132806 2020
41
Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature. 61
32838737 2020
42
Long-term outcome in a case series of Denys-Drash syndrome. 61
31807296 2019
43
Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome. 61
31707902 2019
44
Combination therapy improves pathology indices in diffuse mesangial sclerosis. 61
31090167 2019
45
Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome. 61
30280192 2018
46
[Clinical and pathological features and mutational types of WT1 mutation-associated nephropathy]. 61
30293282 2018
47
Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome. 61
29472414 2018
48
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency. 61
29032433 2018
49
Treatment of Genetic Forms of Nephrotic Syndrome. 61
29632851 2018
50
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children. 61
28566477 2017

Variations for Diffuse Mesangial Sclerosis

ClinVar genetic disease variations for Diffuse Mesangial Sclerosis:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WT1 NM_024426.6(WT1):c.1366T>C (p.Phe456Leu) SNV Pathogenic 3502 rs28941777 GRCh37: 11:32413599-32413599
GRCh38: 11:32392053-32392053
2 WT1 NM_024426.6(WT1):c.1348C>T (p.His450Tyr) SNV Pathogenic 3495 rs28942089 GRCh37: 11:32414218-32414218
GRCh38: 11:32392672-32392672
3 WT1 NM_024426.6(WT1):c.1405G>A (p.Asp469Asn) SNV Pathogenic 3490 rs28941778 GRCh37: 11:32413560-32413560
GRCh38: 11:32392014-32392014
4 WT1 NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) SNV Pathogenic 599100 rs1037084691 GRCh37: 11:32413577-32413577
GRCh38: 11:32392031-32392031
5 WT1 , LOC107982234 NM_024426.6(WT1):c.250C>T (p.Leu84=) SNV Pathogenic 978563 GRCh37: 11:32456657-32456657
GRCh38: 11:32435111-32435111
6 WT1 , LOC107982234 NM_024426.6(WT1):c.278G>C (p.Gly93Ala) SNV Pathogenic 978564 GRCh37: 11:32456629-32456629
GRCh38: 11:32435083-32435083
7 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) SNV Pathogenic 3487 rs121907900 GRCh37: 11:32413566-32413566
GRCh38: 11:32392020-32392020
8 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 GRCh37: 11:32413514-32413514
GRCh38: 11:32391968-32391968
9 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 GRCh37: 11:32413513-32413513
GRCh38: 11:32391967-32391967
10 WT1 NM_024426.6(WT1):c.1316G>A (p.Arg439His) SNV Pathogenic 3488 rs121907901 GRCh37: 11:32414250-32414250
GRCh38: 11:32392704-32392704
11 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 3497 rs121907906 GRCh37: 11:32414263-32414263
GRCh38: 11:32392717-32392717
12 WT1 NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr) SNV Likely pathogenic 547167 rs28941778 GRCh37: 11:32413560-32413560
GRCh38: 11:32392014-32392014
13 WT1 NM_024426.6(WT1):c.1259A>C (p.His420Pro) SNV Likely pathogenic 522401 rs1554939785 GRCh37: 11:32417808-32417808
GRCh38: 11:32396262-32396262
14 WT1 NM_024426.6(WT1):c.500T>A (p.Val167Asp) SNV Likely pathogenic 872897 GRCh37: 11:32456407-32456407
GRCh38:
15 WT1 NM_024426.6(WT1):c.1020C>T (p.His340=) SNV Uncertain significance 877125 GRCh37: 11:32421587-32421587
GRCh38: 11:32400041-32400041
16 WT1 , LOC107982234 NM_024426.6(WT1):c.313G>T (p.Ala105Ser) SNV Uncertain significance 840419 GRCh37: 11:32456594-32456594
GRCh38: 11:32435048-32435048
17 WT1 , LOC107982234 NM_024426.6(WT1):c.298C>G (p.Pro100Ala) SNV Uncertain significance 877249 GRCh37: 11:32456609-32456609
GRCh38: 11:32435063-32435063
18 WT1 NM_024426.6(WT1):c.*12C>T SNV Uncertain significance 877954 GRCh37: 11:32410592-32410592
GRCh38: 11:32389046-32389046
19 WT1 NM_024426.6(WT1):c.*5T>C SNV Uncertain significance 877955 GRCh37: 11:32410599-32410599
GRCh38: 11:32389053-32389053
20 WT1 NM_024426.6(WT1):c.1568G>A (p.Ter523=) SNV Uncertain significance 515922 rs148856160 GRCh37: 11:32410605-32410605
GRCh38: 11:32389059-32389059
21 WT1 NM_024426.6(WT1):c.*629T>C SNV Uncertain significance 878010 GRCh37: 11:32409975-32409975
GRCh38: 11:32388429-32388429
22 WT1 NM_024426.6(WT1):c.1017-9T>C SNV Uncertain significance 414075 rs368486676 GRCh37: 11:32421599-32421599
GRCh38: 11:32400053-32400053
23 WT1 NM_024426.6(WT1):c.973G>A (p.Ala325Thr) SNV Uncertain significance 878161 GRCh37: 11:32438079-32438079
GRCh38: 11:32416533-32416533
24 WT1 , LOC107982234 NM_024426.6(WT1):c.402G>A (p.Pro134=) SNV Uncertain significance 721377 rs777527675 GRCh37: 11:32456505-32456505
GRCh38: 11:32434959-32434959
25 WT1 , LOC107982234 NM_024426.6(WT1):c.-87C>T SNV Uncertain significance 877311 GRCh37: 11:32456993-32456993
GRCh38: 11:32435447-32435447
26 WT1 NM_024426.6(WT1):c.*1066T>G SNV Uncertain significance 879412 GRCh37: 11:32409538-32409538
GRCh38: 11:32387992-32387992
27 WT1 NM_024426.6(WT1):c.1182C>T (p.Arg394=) SNV Uncertain significance 414080 rs147939483 GRCh37: 11:32417885-32417885
GRCh38: 11:32396339-32396339
28 WT1 NM_024426.6(WT1):c.1131T>C (p.Pro377=) SNV Uncertain significance 198590 rs151034312 GRCh37: 11:32417936-32417936
GRCh38: 11:32396390-32396390
29 WT1 NM_024426.6(WT1):c.813G>C (p.Pro271=) SNV Uncertain significance 879620 GRCh37: 11:32449576-32449576
GRCh38: 11:32428030-32428030
30 WT1 NM_024426.6(WT1):c.785G>A (p.Gly262Asp) SNV Uncertain significance 406688 rs372225738 GRCh37: 11:32449604-32449604
GRCh38: 11:32428058-32428058
31 WT1 NM_024426.6(WT1):c.*100A>G SNV Uncertain significance 879521 GRCh37: 11:32410504-32410504
GRCh38: 11:32388958-32388958
32 WT1 NM_024426.6(WT1):c.1124G>A (p.Arg375His) SNV Uncertain significance 406692 rs554416372 GRCh37: 11:32417943-32417943
GRCh38: 11:32396397-32396397
33 WT1 , LOC107982234 NM_024426.6(WT1):c.341C>T (p.Ala114Val) SNV Uncertain significance 522546 rs1311557029 GRCh37: 11:32456566-32456566
GRCh38: 11:32435020-32435020
34 WT1 NM_024426.6(WT1):c.*1021_*1022GT[19] Microsatellite Uncertain significance 304377 rs58549495 GRCh37: 11:32409549-32409550
GRCh38: 11:32388003-32388004
35 WT1 , LOC107982234 NM_024426.6(WT1):c.309C>A (p.Gly103=) SNV Uncertain significance 241480 rs547333427 GRCh37: 11:32456598-32456598
GRCh38: 11:32435052-32435052
36 WT1 , LOC107982234 NM_024426.6(WT1):c.-106C>T SNV Uncertain significance 304438 rs867975105 GRCh37: 11:32457012-32457012
GRCh38: 11:32435466-32435466
37 WT1 NM_024426.6(WT1):c.1017-15T>C SNV Uncertain significance 304420 rs374441355 GRCh37: 11:32421605-32421605
GRCh38: 11:32400059-32400059
38 WT1 , LOC107982234 NM_024426.6(WT1):c.162C>G (p.Ser54Arg) SNV Uncertain significance 304429 rs776954184 GRCh37: 11:32456745-32456745
GRCh38: 11:32435199-32435199
39 WT1 NM_024426.6(WT1):c.*534C>T SNV Uncertain significance 304402 rs868546165 GRCh37: 11:32410070-32410070
GRCh38: 11:32388524-32388524
40 WT1 NM_024426.6(WT1):c.*614A>C SNV Uncertain significance 304397 rs886048219 GRCh37: 11:32409990-32409990
GRCh38: 11:32388444-32388444
41 WT1 , LOC107982234 NM_024426.6(WT1):c.375C>T (p.Gly125=) SNV Uncertain significance 241481 rs776209354 GRCh37: 11:32456532-32456532
GRCh38: 11:32434986-32434986
42 WT1 NM_024426.6(WT1):c.*354G>T SNV Uncertain significance 304407 rs886048224 GRCh37: 11:32410250-32410250
GRCh38: 11:32388704-32388704
43 WT1 , LOC107982234 NM_024426.6(WT1):c.-76T>C SNV Uncertain significance 304432 rs886048235 GRCh37: 11:32456982-32456982
GRCh38: 11:32435436-32435436
44 WT1 , LOC107982234 NM_024426.6(WT1):c.512G>T (p.Gly171Val) SNV Uncertain significance 438653 rs1554946480 GRCh37: 11:32456395-32456395
GRCh38: 11:32434849-32434849
45 WT1 NM_024426.6(WT1):c.1180C>T (p.Arg394Cys) SNV Uncertain significance 599126 rs1564972874 GRCh37: 11:32417887-32417887
GRCh38: 11:32396341-32396341
46 WT1 NM_024426.6(WT1):c.1216A>G (p.Arg406Gly) SNV Uncertain significance 635489 rs1590338690 GRCh37: 11:32417851-32417851
GRCh38: 11:32396305-32396305
47 WT1 , LOC107982234 NM_024426.6(WT1):c.83G>A (p.Gly28Glu) SNV Uncertain significance 241487 rs751641518 GRCh37: 11:32456824-32456824
GRCh38: 11:32435278-32435278
48 WT1 , LOC107982234 NM_024426.6(WT1):c.314C>G (p.Ala105Gly) SNV Uncertain significance 476699 rs948061247 GRCh37: 11:32456593-32456593
GRCh38: 11:32435047-32435047
49 WT1 , LOC107982234 NM_024426.6(WT1):c.193G>A (p.Gly65Arg) SNV Uncertain significance 241478 rs374404615 GRCh37: 11:32456714-32456714
GRCh38: 11:32435168-32435168
50 WT1 NM_024426.6(WT1):c.977G>C (p.Gly326Ala) SNV Uncertain significance 403610 rs766054482 GRCh37: 11:32438075-32438075
GRCh38: 11:32416529-32416529

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 TGFB1 PLCE1 PDGFA LAMC1 LAMB2 LAMB1
2 12.63 TGFB1 PDGFA LAMC1 LAMB2 LAMB1
3
Show member pathways
12.45 TGFB1 PDGFA LAMC1 LAMB2 LAMB1 AGRN
4
Show member pathways
12.18 TGFB1 PLCE1 PDGFA ARHGDIA
5
Show member pathways
12.09 TGFB1 PDGFA LAMC1 LAMB2 LAMB1 AGRN
6
Show member pathways
12.07 TGFB1 LAMC1 LAMB2 LAMB1
7
Show member pathways
11.93 LAMC1 LAMB2 LAMB1 AGRN
8
Show member pathways
11.89 LAMC1 LAMB2 AGRN
9 11.85 WT1 TGFB1 PAX2
10 11.68 TGFB1 LAMC1 LAMB2 LAMB1
11 11.66 LAMC1 LAMB2 LAMB1
12 11.53 TGFB1 PLCE1 PDGFA ARHGDIA
13 11.34 TGFB1 LAMC1 LAMB1
14 11.11 TGFB1 LAMC1 LAMB2 LAMB1 AGRN
15 11.1 LAMC1 LAMB2 LAMB1
16 11.09 WT1 TGFB1 PLCE1 PAX2 NPHS2 NPHS1
17 11.04 TGFB1 PDGFA
18 10.98 NPHS2 NPHS1
19 10.7 TGFB1 PLCE1 PDGFA LAMC1 LAMB2 LAMB1

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 extracellular exosome GO:0070062 10.02 NPHS2 NPHS1 LAMC1 LAMB2 LAMB1 ARHGDIA
2 endoplasmic reticulum lumen GO:0005788 9.73 PDGFA LAMC1 LAMB2 LAMB1
3 collagen-containing extracellular matrix GO:0062023 9.72 TGFB1 LAMC1 LAMB2 LAMB1 AGRN
4 Golgi lumen GO:0005796 9.63 TGFB1 PDGFA AGRN
5 slit diaphragm GO:0036057 9.4 NPHS2 NPHS1
6 laminin complex GO:0043256 9.37 LAMB2 LAMB1
7 laminin-11 complex GO:0043260 9.26 LAMC1 LAMB2
8 laminin-10 complex GO:0043259 9.16 LAMC1 LAMB1
9 laminin-1 complex GO:0005606 8.96 LAMC1 LAMB1
10 basement membrane GO:0005604 8.92 LAMC1 LAMB2 LAMB1 AGRN

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.78 TGFB1 LAMC1 LAMB2 LAMB1
2 extracellular matrix organization GO:0030198 9.65 PDGFA LAMC1 LAMB2 LAMB1 AGRN
3 excretion GO:0007588 9.58 NPHS2 NPHS1
4 substrate adhesion-dependent cell spreading GO:0034446 9.58 LAMC1 LAMB2 LAMB1
5 endoderm development GO:0007492 9.57 TGFB1 LAMC1
6 regulation of actin cytoskeleton reorganization GO:2000249 9.56 TGFB1 ARHGDIA
7 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.55 TGFB1 PAX2
8 cell activation GO:0001775 9.54 TGFB1 PDGFA
9 basement membrane assembly GO:0070831 9.52 LAMB2 LAMB1
10 glomerular basement membrane development GO:0032836 9.51 WT1 NPHS1
11 mesenchymal to epithelial transition GO:0060231 9.49 WT1 PAX2
12 metanephric mesenchyme development GO:0072075 9.46 WT1 PAX2
13 positive regulation of epithelial cell proliferation GO:0050679 9.46 TGFB1 PAX2 LAMC1 LAMB1
14 glomerulus development GO:0032835 9.43 WT1 PLCE1
15 metanephric epithelium development GO:0072207 9.37 WT1 PAX2
16 animal organ morphogenesis GO:0009887 9.35 PDGFA LAMC1 LAMB2 LAMB1 AGRN
17 metanephric glomerular visceral epithelial cell development GO:0072249 9.32 NPHS2 LAMB2
18 tissue development GO:0009888 9.02 WT1 LAMC1 LAMB2 LAMB1 AGRN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.92 LAMC1 LAMB2 LAMB1 AGRN

Sources for Diffuse Mesangial Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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