DMS
MCID: DFF021
MIFTS: 38

Diffuse Mesangial Sclerosis (DMS) 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 48 68
Diffuse Mesangial Sclerosis Syndromes 24 27
Isolated Diffuse Mesangial Sclerosis 48 24
Familial Mesangial Sclerosis 48 68
Mesangial Sclerosis, Diffuse 48 50
 
Nephrotic Syndrome, Early Onset with Diffuse Mesangial Sclerosis 48
Diffuse Isolated Mesangial Sclerosis 48
Idms 24
Dms 48

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 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 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 Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism.

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 53)
idRelated DiseaseScoreTop Affiliating Genes
1sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis12.1
2familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis12.1
3nephrotic syndrome, type 411.7
4dermatomyositis11.6
5denys-drash syndrome11.5
6myotonic dystrophy 111.3
7pierson syndrome11.3
8nephrotic syndrome, type 311.3
9maturity-onset diabetes of the young11.2
10diabetes insipidus11.2
11epidermolysis bullosa simplex, dowling-meara type11.0
12nephrotic syndrome, type 811.0
13diaphyseal medullary stenosis with malignant fibrous histiocytoma10.7
14childhood type dermatomyositis10.7
15neonatal dermatomyositis10.7
16myotonic dystrophy 210.7
17wolfram syndrome10.7
18nephrotic syndrome10.3
19congenital megacalycosis10.3PLCE1, WT1
20congenital bilateral megacalycosis10.1NPHS1, PTPRO
21anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis10.1LAMC1, PAX2, WT1
22mucinous adenofibroma10.0PAX2, WT1
23glaucoma 1, open angle, e10.0LAMB2, NPHS1, NPHS2
24congenital torticollis10.0NPHS1, NPHS2, WT1
25sick sinus syndrome 310.0NPHS1, NPHS2
26cholangitis, primary sclerosing10.0LAMB1, LAMB2, NPHS2
27aphthous stomatitis10.0NPHS1, NPHS2, TGFB1
28hypertrichosis of eyelid10.0NPHS1, NPHS2, TGFB1
29pauci-immune glomerulonephritis9.9NPHS1, NPHS2, PTPRO
30mixed germ cell-sex cord neoplasm9.9NPHS1, NPHS2, TGFB1
31familial nephrotic syndrome9.9NPHS1, NPHS2, TGFB1, WT1
32microcephaly9.9
33heart valve disease9.9NPHS1, NPHS2, TGFB1
34focal segmental glomerulosclerosis9.9LAMB2, NPHS1, NPHS2, PLCE1, WT1
35benign secondary hypertension9.9NPHS2, PTPRO, TGFB1
36biliary cirrhosis, primary, 29.9LAMC1, NPHS1, NPHS2, TGFB1
37calcinosis9.8NPHS1, NPHS2, TGFB1
38hypothyroidism, congenital, nongoitrous, 39.8LAMB2, NPHS1, NPHS2, PTPRO
39lung giant cell carcinoma9.8NPHS1, NPHS2, PAX2, WT1
40deafness, autosomal recessive 519.8NPHS1, NPHS2, PDGFA, PLCE1, WT1
41breast cancer9.8
42multiple myeloma9.8
43frasier syndrome9.8NPHS1, NPHS2, PAX2, PDGFA, WT1
44kawasaki disease9.8
45cataract9.8
46dyskeratosis congenita9.8
47malignant hyperthermia susceptibility 19.8LAMB2, NPHS1, NPHS2, PTPRO, WT1
48cerebral cavernous malformations-29.7NPHS1, NPHS2, PAX2, PTPRO, WT1
49gastric cancer9.7LAMB2, NPHS1, NPHS2, PAX2, PTPRO, WT1
50transient pseudohypoaldosteronism9.6ARHGDIA, NPHS1, NUP93, PLCE1, PTPRO, WT1

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



Diseases related to diffuse mesangial sclerosis

Symptoms & Phenotypes for Diffuse Mesangial Sclerosis

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GenomeRNAi Phenotypes related to Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-19210.3NUP93, TGFB1, WT1

MGI Mouse Phenotypes related to Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9AGRN, ARHGDIA, LAMB2, LAMC1, NPHS1, NPHS2
2MP:00053857.7AGRN, ARHGDIA, LAMC1, NPHS2, PAX2, PDGFA
3MP:00107687.3AGRN, ARHGDIA, LAMB1, LAMB2, LAMC1, NPHS1
4MP:00053676.5AGRN, ARHGDIA, LAMB2, LAMC1, NPHS1, NPHS2

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 Sclerosis27
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:

36
Brain

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
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
Immunohistochemical analysis of molecular events in tubulo-interstitial fibrosis in a mouse model of diffuse mesangial sclerosis (ICGN strain). (11307931)
2001
13
Diffuse mesangial sclerosis presenting as infantile nephrotic syndrome. (11418734)
2001
14
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. (11241056)
2001
15
Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis. (11405118)
2001
16
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. (10805477)
2000
17
Nephrotic mice (ICGN strain): a model of diffuse mesangial sclerosis in infantile nephrotic syndrome. (10085455)
1999
18
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. (9916932)
1999
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
Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement. (9894834)
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
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
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. (7180443)
1982
37
Diffuse mesangial sclerosis and ocular abnormalities in two siblings. (6809680)
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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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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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
1basal laminaGO:000560510.6AGRN, LAMB2
2laminin-11 complexGO:004326010.4LAMB2, LAMC1
3laminin-1 complexGO:000560610.4LAMB1, LAMC1
4laminin-10 complexGO:004325910.4LAMB1, LAMC1
5basement membraneGO:000560410.2LAMB1, LAMB2, LAMC1
6slit diaphragmGO:003605710.0NPHS1, NPHS2
7Golgi lumenGO:00057969.7AGRN, PDGFA, TGFB1
8extracellular matrixGO:00310129.5AGRN, LAMB1, LAMB2, LAMC1, TGFB1
9endoplasmic reticulum lumenGO:00057889.3LAMB1, LAMB2, LAMC1, PDGFA
10proteinaceous extracellular matrixGO:00055789.1AGRN, LAMB1, LAMB2, LAMC1, TGFB1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.6NPHS1, WT1
2mesenchymal to epithelial transitionGO:006023110.6PAX2, WT1
3metanephric epithelium developmentGO:007220710.6PAX2, WT1
4metanephric mesenchyme developmentGO:007207510.6PAX2, WT1
5metanephric glomerular visceral epithelial cell developmentGO:007224910.5LAMB2, NPHS2
6positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.4PAX2, TGFB1
7glomerular visceral epithelial cell developmentGO:007201510.3NPHS1, NUP93
8glomerular visceral epithelial cell differentiationGO:007211210.3PTPRO, WT1
9glomerulus developmentGO:003283510.1PLCE1, PTPRO, WT1
10positive regulation of SMAD protein import into nucleusGO:006039110.0NUP93, TGFB1
11cell activationGO:000177510.0PDGFA, TGFB1
12regulation of actin cytoskeleton reorganizationGO:20002499.7ARHGDIA, TGFB1
13positive regulation of epithelial cell proliferationGO:00506799.6LAMB1, LAMC1, PAX2, TGFB1
14extracellular matrix organizationGO:00301988.9AGRN, LAMB1, LAMB2, LAMC1, PDGFA

Sources for Diffuse Mesangial Sclerosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet