MCID: DNY001
MIFTS: 57

Denys-Drash Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

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, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Denys-Drash Syndrome:

Name: Denys-Drash Syndrome 49 32 10 11 45 22 23 47 12 51 65 36 67
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 194080
Disease Ontology10 DOID:3764
NCIt42 C84668
Orphanet51 220
SNOMED-CT59 236385009
ICD10 via Orphanet28 N04.1
MESH via Orphanet37 D030321
UMLS via Orphanet66 C0950121
MedGen34 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 frasier syndrome and gonadal dysgenesis, and has symptoms including male pseudohermaphroditism, proteinuria and nephrotic syndrome. An important gene associated with Denys-Drash Syndrome is WT1 (Wilms Tumor 1), and among its related pathways are Nephrin interactions and Ceramide signaling pathway. Affiliated tissues include kidney and testes, and related mouse phenotypes are reproductive system and cardiovascular 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).

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

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.

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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Diseases related to Denys-Drash Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1frasier syndrome29.6CD2AP, NPHS1, NPHS2, NR5A1, PDGFA, WT1
2gonadal dysgenesis10.6
3gonadoblastoma10.5
4glomerulosclerosis10.5
5diffuse mesangial sclerosis10.5
6pseudohermaphroditism10.5
7congenital diaphragmatic hernia10.4
8mixed gonadal dysgenesis10.4
9hemolytic-uremic syndrome10.4
10kidney disease10.4
11nephrotic syndrome10.4
12pyloric stenosis10.4
13septate vagina10.4
14coronary artery disease10.3
15artery disease10.3
16endotheliitis10.3
17myocardial infarction10.2
18renal artery disease10.2PAX2, WT1
19obesity10.1
20leprosy10.1
21gastroesophageal junction adenocarcinoma10.1PAX2, WT1
22paranasal sinus sarcoma10.1PAX2, WT1
23mccallum macadam johnston syndrome10.1PAX2, WT1
24end stage renal failure10.1
25glomerulonephritis10.1
26intussusception10.1
27glomerular disease10.1
28papillary follicular thyroid adenocarcinoma10.1PAX2, WT1
29pigmented paravenous retinochoroidal atrophy10.1NR5A1, WT1
30autosomal recessive myogenic arthrogryposis multiplex congenita10.1CD2AP, NPHS1
31prostate cancer10.1
32diastrophic dysplasia10.1
33mohr-tranebjaerg syndrome10.1
34acute myocardial infarction10.1
35gastric cancer10.1
36lepromatous leprosy10.1
37specific developmental disorder10.1
38developmental disabilities10.1
39mesothelioma, somatic10.0PDGFA, WT1
40pfeiffer syndrome type 310.0NPHS1, NPHS2
41sex differentiation disease10.0NR5A1, WT1
42corneal dystrophy, fuchs endothelial, 810.0NPHS1, NPHS2
43glycogen storage disease due to lactate dehydrogenase deficiency9.9NPHS2, PAX2, WT1
44nail-patella syndrome9.9CD2AP, NPHS2, PAX2
45colorectal cancer9.9
46systemic lupus erythematosus9.9
47prostate cancer 19.9
48dyslexia 39.9
49coronary heart disease 29.9
50diabetes mellitus, noninsulin-dependent9.9

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 24)
id Description Frequency HPO Source Accession
1 male pseudohermaphroditism hallmark (90%) HP:0000037
2 proteinuria hallmark (90%) HP:0000093
3 nephrotic syndrome hallmark (90%) HP:0000100
4 nephropathy hallmark (90%) HP:0000112
5 nephroblastoma (wilms tumor) hallmark (90%) HP:0002667
6 hypertension typical (50%) HP:0000822
7 gonadal dysgenesis occasional (7.5%) HP:0000133
8 autosomal dominant inheritance HP:0000006
9 ambiguous genitalia, male HP:0000033
10 male pseudohermaphroditism HP:0000037
11 ambiguous genitalia, female HP:0000061
12 focal segmental glomerulosclerosis HP:0000097
13 nephrotic syndrome HP:0000100
14 nephropathy HP:0000112
15 gonadal dysgenesis HP:0000133
16 ovarian gonadoblastoma HP:0000149
17 congenital diaphragmatic hernia HP:0000776
18 hypertension HP:0000822
19 somatic mutation HP:0001428
20 diffuse mesangial sclerosis HP:0001967
21 nephroblastoma (wilms tumor) HP:0002667
22 gonadal tissue inappropriate for external genitalia or chromosomal sex HP:0003248
23 stage 5 chronic kidney disease HP:0003774
24 true hermaphroditism HP:0010459

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
2 Drash Syndrome24

Anatomical Context for Denys-Drash Syndrome

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MalaCards organs/tissues related to Denys-Drash Syndrome:

33
Kidney, Testes

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:00053897.8BAX, NR5A1, PAX2, PDGFA, WT1
2MP:00053857.5CD2AP, NPHS2, NR5A1, PAX2, PDGFA, WT1
3MP:00053677.2BAX, CD2AP, NPHS1, NPHS2, PAX2, PDGFA
4MP:00053787.2BAX, CD2AP, NPHS2, NR5A1, PDGFA, WT1
5MP:00053766.5BAX, CD2AP, NPHS1, NPHS2, NR5A1, PDGFA
6MP:00107686.5BAX, CD2AP, NPHS1, NPHS2, NR5A1, PAX2

Publications for Denys-Drash Syndrome

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Articles related to Denys-Drash Syndrome:

(show top 50)    (show all 76)
idTitleAuthorsYear
1
Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome. (24625882)
2014
2
An unusual presentation of denys-drash syndrome due to bigenic disease. (24379226)
2014
3
Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate. (25077094)
2014
4
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. (23715653)
2013
5
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. (23729537)
2013
6
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome. (21559934)
2011
7
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. (21851196)
2011
8
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. (19797313)
2010
9
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. (20562648)
2010
10
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. (18197048)
2008
11
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G &gt; A(Arg366His) mutation. (18203154)
2008
12
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). (18040647)
2008
13
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
14
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. (17267748)
2007
15
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. (16303781)
2006
16
Denys-Drash syndrome (DDS). (16823575)
2006
17
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. (16932893)
2006
18
Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. (15910385)
2005
19
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. (15503171)
2005
20
Denys-Drash syndrome. (15758579)
2005
21
Denys-Drash syndrome. (15026863)
2004
22
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. (15349765)
2004
23
The dysregulated glomerular cell growth in Denys-Drash syndrome. (15232745)
2004
24
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. (12915483)
2003
25
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. (12161615)
2002
26
Wilms tumor in a pediatric renal transplant recipient with unexpected Denys-Drash syndrome. (12493420)
2002
27
A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. (12138137)
2002
28
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. (11519891)
2001
29
Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. (11322369)
2001
30
Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome. (11393579)
2001
31
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (10738002)
2000
32
Hemolytic uremic syndrome associated with Denys-Drash syndrome. (11045393)
2000
33
A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. (10799199)
2000
34
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. (10077614)
1999
35
Unexpected Wilms' tumor in a pediatric renal transplant recipient: suspected Denys-Drash syndrome. (10371996)
1999
36
Renal transplantation in the management of bilateral Wilms' tumour (BWT) and of Denys-Drash syndrome (DDS). (9641183)
1998
37
No evidence of WT1 involvement in a Burkitt's lymphoma in a patient with Denys-Drash syndrome. (9681076)
1998
38
Regulation of renal EGF receptor expression is normal in Denys-Drash syndrome. (9291179)
1997
39
Atypical presentation of Denys-Drash syndrome in a female with a novel Wt1 gene mutation. (9125334)
1996
40
A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome. (8956030)
1996
41
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases? (7556327)
1995
42
Aberrant proteoglycan composition of the glomerular basement membrane in a patient with Denys-Drash syndrome. (8808212)
1995
43
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. (7959750)
1994
44
Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome. (8281163)
1993
45
A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys-Drash syndrome. (8281164)
1993
46
A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome. (8381368)
1993
47
Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. (8229473)
1993
48
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. (8388765)
1993
49
Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development. (1338905)
1992
50
Inherited WT1 mutation in Denys-Drash syndrome. (1327525)
1992

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_001198551.1(WT1): c.787+14G> 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 pathways (with members indented)ScoreTop Affiliating Genes
19.5CD2AP, NPHS1
29.1BAX, PDGFA
39.1CD2AP, NPHS1, NPHS2
48.8BAX, PDGFA, WT1

GO Terms for genes affiliated with Denys-Drash Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:00360579.6NPHS1, NPHS2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentGO:190021210.3PAX2, WT1
2metanephric mesenchyme developmentGO:007207510.2PAX2, WT1
3metanephric epithelium developmentGO:007220710.2PAX2, WT1
4mesonephros developmentGO:000182310.1PAX2, WT1
5negative regulation of female gonad developmentGO:200019510.1NR5A1, WT1
6mesenchymal to epithelial transitionGO:006023110.0PAX2, WT1
7glomerular basement membrane developmentGO:003283610.0NPHS1, WT1
8branching involved in ureteric bud morphogenesisGO:000165810.0PAX2, WT1
9excretionGO:00075889.9NPHS1, NPHS2
10camera-type eye developmentGO:00430109.9PAX2, WT1
11adrenal gland developmentGO:00303259.8NR5A1, WT1
12germ cell developmentGO:00072819.6BAX, WT1
13positive regulation of male gonad developmentGO:20000209.5NR5A1, WT1
14response to woundingGO:00096119.5BAX, PDGFA
15tissue developmentGO:00098889.4NR5A1, WT1
16male gonad developmentGO:00085848.7BAX, NR5A1, 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