MCID: DNY001
MIFTS: 54

Denys-Drash Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Denys-Drash Syndrome

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Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Denys-Drash Syndrome:

Name: Denys-Drash Syndrome 49 32 10 11 45 22 23 47 12 51 67 36 65
Drash Syndrome 45 22 23 51 24
Wilms Tumor and Pseudohermaphroditism 45 22 23 51
Nephropathy, Wilms Tumor, and Genital Anomalies 45 23
 
Dds 23 67
Nephropathy Associated with Male Pseudohermaphroditism and Wilms' Tumor 45
Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor 45

Characteristics:

Orphanet epidemiological data:

51
denys-drash syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
denys-drash syndrome:
Inheritance: somatic mutation, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 194080
Disease Ontology10 DOID:3764
MeSH36 D030321
NCIt42 C84668
Orphanet51 220
SNOMED-CT59 236385009
ICD10 via Orphanet28 N04.1
MESH via Orphanet37 D030321
UMLS via Orphanet66 C0950121
MedGen34 C0950121
UMLS65 C0950121

Summaries for Denys-Drash Syndrome

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NIH Rare Diseases:45 Denys-drash syndrome is a condition that affects the kidneys and genitalia. kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. in addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as wilms tumor. males with denys-drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. the testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. affected females usually have normal genitalia. for this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. denys-drash syndrome is caused by mutations in the wt1 gene. this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. however, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. last updated: 10/28/2013

MalaCards based summary: Denys-Drash Syndrome, also known as drash syndrome, is related to dentin dysplasia, type ii and diastrophic dysplasia, and has symptoms including nephroblastoma (wilms tumor), nephropathy and nephrotic syndrome. An important gene associated with Denys-Drash Syndrome is WT1 (Wilms Tumor 1), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, testes and t cells, and related mouse phenotypes are embryo and renal/urinary system.

Disease Ontology:10 An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).

UniProtKB/Swiss-Prot:67 Denys-Drash syndrome: Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic.

Genetics Home Reference:23 Denys-Drash syndrome is a condition that affects the kidneys and genitalia.

Wikipedia:68 Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal... more...

Description from OMIM:49 194080

Related Diseases for Denys-Drash Syndrome

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Graphical network of the top 20 diseases related to Denys-Drash Syndrome:



Diseases related to denys-drash syndrome

Symptoms for Denys-Drash Syndrome

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Symptoms by clinical synopsis from OMIM:

194080

Clinical features from OMIM:

194080

Symptoms:

 51 (show all 7)
  • renal disease/nephropathy
  • nephrotic syndrome
  • proteinuria
  • male pseudohermaphrodism/lack of virilisation
  • nephroblastoma/wilms tumor
  • chronic arterial hypertension
  • mixed gonadal dysgenesis

HPO human phenotypes related to Denys-Drash Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 nephroblastoma (wilms tumor) hallmark (90%) HP:0002667
2 nephropathy hallmark (90%) HP:0000112
3 nephrotic syndrome hallmark (90%) HP:0000100
4 proteinuria hallmark (90%) HP:0000093
5 male pseudohermaphroditism hallmark (90%) HP:0000037
6 hypertension typical (50%) HP:0000822
7 gonadal dysgenesis occasional (7.5%) HP:0000133
8 true hermaphroditism HP:0010459
9 stage 5 chronic kidney disease HP:0003774
10 gonadal tissue inappropriate for external genitalia or chromosomal sex HP:0003248
11 nephroblastoma (wilms tumor) HP:0002667
12 diffuse mesangial sclerosis HP:0001967
13 hypertension HP:0000822
14 congenital diaphragmatic hernia HP:0000776
15 ovarian gonadoblastoma HP:0000149
16 gonadal dysgenesis HP:0000133
17 nephropathy HP:0000112
18 nephrotic syndrome HP:0000100
19 focal segmental glomerulosclerosis HP:0000097
20 ambiguous genitalia, female HP:0000061
21 male pseudohermaphroditism HP:0000037
22 ambiguous genitalia, male HP:0000033

Drugs & Therapeutics for Denys-Drash Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated DiseasesCompletedNCT01252901

Search NIH Clinical Center for Denys-Drash Syndrome


Cochrane evidence based reviews: denys-drash syndrome

Genetic Tests for Denys-Drash Syndrome

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Genetic tests related to Denys-Drash Syndrome:

id Genetic test Affiliating Genes
1 Denys-Drash Syndrome22 WT1

Anatomical Context for Denys-Drash Syndrome

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MalaCards organs/tissues related to Denys-Drash Syndrome:

33
Kidney, Testes, T cells, Neutrophil, Placenta, Endothelial, Myeloid

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Denys-Drash Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyMetanephric MesenchymeMetanephric Mesenchyme Cells Affected by disease

Animal Models for Denys-Drash Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Denys-Drash Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5MECOM, NR5A1, PAX2, PDGFA, WT1
2MP:00053678.4CD2AP, NPHS1, PAX2, PDGFA, WT1
3MP:00053898.3MECOM, NR5A1, PAX2, PDGFA, WT1
4MP:00053857.7CD2AP, MECOM, NR5A1, PAX2, PDGFA, WT1
5MP:00107686.9CD2AP, MECOM, NPHS1, NR5A1, PAX2, PDGFA

Publications for Denys-Drash Syndrome

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Articles related to Denys-Drash Syndrome:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Diabetes retinopathy is a poor predictor for renal and cardiovascular outcomes in comparison with hypertensive retinopathy in patients with chronic kidney disease. (26008724)
2015
2
Re-expression of LKB1 in LKB1-mutant EKVX cells leads to resistance to paclitaxel through the up-regulation of MDR1 expression. (25769882)
2015
3
POEMS Syndrome with IgG-I>/IgA-I_ Biclonal Gammopathy and Abnormal Serum Free Light Chain Ratio: a Case Report. (26663802)
2015
4
An unusual cause of terminal hematuria in a child: Eosinophilic cystitis. (25485018)
2014
5
Correlations between behavioural and oxidative parameters in a rat quinolinic acid model of Huntington's disease: protective effect of melatonin. (23340221)
2013
6
Molecular pathology of Bernard-Soulier syndrome in Indian patients. (23402648)
2013
7
S. Burt Wolbach, Rocky Mountain spotted fever, and blood-sucking arthropods: triumph of an early investigative pathologist. (23256917)
2013
8
Regulation of ubiquitin transfer by XIAP, a dimeric RING E3 ligase. (23259674)
2013
9
Skin squamous cell carcinoma propagating cells increase with tumour progression and invasiveness. (23188079)
2012
10
The involvement of CHD5 hypermethylation in laryngeal squamous cell carcinoma. (21636313)
2011
11
Serine protease autotransporters from Shigella flexneri and pathogenic Escherichia coli target a broad range of leukocyte glycoproteins. (21768350)
2011
12
Effect and safety of mycophenolate mofetil in idiopathic pulmonary fibrosis. (22135741)
2011
13
Collagenous colitis and nonsteroidal anti-inflammatory drugs. (20206864)
2010
14
Hematemesis and pyloric stenosis. (19745098)
2010
15
Adenosine deaminase modulation of telomerase activity and replicative senescence in human CD8 T lymphocytes. (20147632)
2010
16
Combined adaptive servo-ventilation and automatic positive airway pressure (anticyclic modulated ventilation) in co-existing obstructive and central sleep apnea syndrome and periodic breathing. (19303811)
2009
17
Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition. (19372546)
2009
18
Evaluation of iron deficiency anemia in older adults: the role of wireless capsule endoscopy. (19623687)
2009
19
Validated ligand binding sites in CCK receptors. next step: computer-aided design of novel CCK ligands. (17584146)
2007
20
Opposite effects of high glucose on MMP-2 and TIMP-2 in human endothelial cells. (17203468)
2007
21
Cardiac glycosides in cancer research and cancer therapy. (17514873)
2006
22
Treatment of neuroleptic-induced tardive dyskinesia with levetiracetam: a case series. (16633158)
2006
23
Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. (16388083)
2006
24
Human pancreatic mucinous cystadenoma is characterized by distinct mucin, cytokeratin and CD10 expression compared with intraductal papillary-mucinous adenoma. (16722930)
2006
25
An aspirin responsive non-progressive chronic chorea. (16421142)
2006
26
Effect of dietary melengestrol acetate on the incidence of acute interstitial pneumonia in feedlot heifers. (16850945)
2006
27
Surgical management of macular retinoschisis associated with high myopia. (16908827)
2006
28
Antenatal diagnosis of placenta accreta: a review. (15971281)
2005
29
DNA intrastrand cross-link at the 5'-GA-3' sequence formed by busulfan and its role in the cytotoxic effect. (15132775)
2004
30
ACBP and cholesterol differentially alter fatty acyl CoA utilization by microsomal ACAT. (12518025)
2003
31
Macrophage migration inhibitory factor activates antigen-presenting dendritic cells and induces inflammatory cytokines in ulcerative colitis. (12109441)
2002
32
Matrilysin shedding of syndecan-1 regulates chemokine mobilization and transepithelial efflux of neutrophils in acute lung injury. (12464176)
2002
33
Transmembrane proteins of tight junctions. (10966862)
2000
34
Initial experiences of women from hereditary breast cancer families after bilateral prophylactic mastectomy: a retrospective study. (10873354)
2000
35
Surgical management of infantile hypertrophic pyloric stenosis--can it be performed by general surgeons? (11041036)
2000
36
Gangliosides GD1a and GM3 induce interleukin-10 production by human T cells. (10066419)
1999
37
Congenital torticollis in association with craniosynostosis. (10361966)
1999
38
Prognostic factors in papillary and follicular thyroid carcinomas: p53 expression is a significant indicator of prognosis. (9473076)
1998
39
Antibodies against a peptide sequence located in the linker region of the HMG-1/2 box domains in sera from patients with juvenile rheumatoid arthritis. (9336414)
1997
40
Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism. (9147642)
1997
41
Markers of airway smooth muscle cell phenotype. (8764231)
1996
42
A domain of p47phox that interacts with human neutrophil flavocytochrome b558. (7592831)
1995
43
SOX3 is an X-linked gene related to SRY. (8111369)
1993
44
Short segment incremental studies in the evaluation of ulnar neuropathy at the elbow. (1518514)
1992
45
Phosphorylation of Xenopus cyclins B1 and B2 is not required for cell cycle transitions. (1649383)
1991
46
Wegener autoantigen and myeloblastin are encoded by a single mRNA. (1681549)
1991
47
Successful management of an intracranial arteriovenous malformation by conventional irradiation. (4020441)
1985
48
Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE). (6437963)
1984
49
Partial inhibition of cell-mediated immunity (CMI) by niridazole: effect upon development of autoimmune aspermatogenic orchitis (AIAO) in guinea pigs. (7102889)
1982
50
Electroencephalographic and behavioral effects of a GABA agonist (muscimol) on photosensitive epilepsy in the baboon, papio papio. (113208)
1979

Variations for Denys-Drash Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Denys-Drash Syndrome:

67 (show all 24)
id Symbol AA change Variation ID SNP ID
1WT1p.Cys330TyrVAR_007743
2WT1p.Cys360GlyVAR_007744
3WT1p.Arg366CysVAR_007745
4WT1p.Arg366HisVAR_007746
5WT1p.His373GlnVAR_007747
6WT1p.Arg394TrpVAR_007750
7WT1p.Asp396AsnVAR_007751
8WT1p.Asp396GlyVAR_007752
9WT1p.Met342ArgVAR_015054
10WT1p.Cys355TyrVAR_015055
11WT1p.His373TyrVAR_015056
12WT1p.His377ArgVAR_015057
13WT1p.Cys385ArgVAR_015058
14WT1p.Cys388PheVAR_015059
15WT1p.Arg394GlnVAR_015061
16WT1p.Leu398ProVAR_015062
17WT1p.Cys360TyrVAR_043800
18WT1p.Arg366LeuVAR_043802
19WT1p.Gln369ProVAR_043803
20WT1p.Cys388TyrVAR_043806
21WT1p.Arg394ProVAR_043808
22WT1p.Asp396TyrVAR_043809
23WT1p.His401TyrVAR_043811
24WT1p.His405ArgVAR_043812

Clinvar genetic disease variations for Denys-Drash Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1WT1NM_024426.4(WT1): c.1384C> T (p.Arg462Trp)single nucleotide variantPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
2WT1NM_024426.4(WT1): c.1301G> A (p.Arg434His)single nucleotide variantPathogenicrs121907901GRCh37Chr 11, 32414250: 32414250
3WT1NM_024426.4(WT1): c.1391A> G (p.Asp464Gly)single nucleotide variantPathogenicrs121907902GRCh37Chr 11, 32413559: 32413559
4WT1NM_024426.4(WT1): c.1390G> A (p.Asp464Asn)single nucleotide variantPathogenicrs28941778GRCh37Chr 11, 32413560: 32413560
5WT1NM_024426.4(WT1): c.1385G> C (p.Arg462Pro)single nucleotide variantPathogenicrs121907903GRCh37Chr 11, 32413565: 32413565
6WT1NM_024426.4(WT1): c.1193G> A (p.Cys398Tyr)single nucleotide variantPathogenicrs121907904GRCh37Chr 11, 32417859: 32417859
7WT1NM_024426.4(WT1): c.1432+5G> Asingle nucleotide variantPathogenicrs587776576GRCh38Chr 11, 32391967: 32391967
8WT1NM_024426.4(WT1): c.1333C> T (p.His445Tyr)single nucleotide variantPathogenicrs28942089GRCh37Chr 11, 32414218: 32414218
9WT1NM_024426.4(WT1): c.1282T> G (p.Cys428Gly)single nucleotide variantPathogenicrs121907905GRCh37Chr 11, 32414269: 32414269
10WT1NM_024426.4(WT1): c.1288C> T (p.Arg430Ter)single nucleotide variantPathogenicrs121907906GRCh37Chr 11, 32414263: 32414263
11WT1NM_024426.4(WT1): c.1323C> G (p.His441Gln)single nucleotide variantPathogenicrs121907907GRCh37Chr 11, 32414228: 32414228

Expression for genes affiliated with Denys-Drash Syndrome

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Search GEO for disease gene expression data for Denys-Drash Syndrome.

Pathways for genes affiliated with Denys-Drash Syndrome

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Pathways related to Denys-Drash Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6PAX2, PDGFA
29.5CD2AP, NPHS1
39.5CD2AP, NPHS1

GO Terms for genes affiliated with Denys-Drash Syndrome

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Biological processes related to Denys-Drash Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1metanephric mesenchyme developmentGO:007207510.1PAX2, WT1
2metanephric epithelium developmentGO:007220710.1PAX2, WT1
3camera-type eye developmentGO:004301010.1PAX2, WT1
4sex determinationGO:00075309.7SRY, WT1
5cell differentiationGO:00301548.7MECOM, NR5A1, SRY
6positive regulation of transcription, DNA-templatedGO:00458938.2MECOM, NR5A1, SRY, WT1

Molecular functions related to Denys-Drash Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.1CD2AP, NR5A1, PAX2, SRY, WT1

Sources for Denys-Drash Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet