DDS
MCID: DNY001
MIFTS: 52

Denys-Drash Syndrome (DDS) malady

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

Aliases & Classifications for Denys-Drash Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Denys-Drash Syndrome:

Name: Denys-Drash Syndrome 52 35 11 48 24 25 54 70 12 50 39 13 68
Drash Syndrome 48 24 25 54 27
Wilms Tumor and Pseudohermaphroditism 48 24 25 54
Nephropathy, Wilms Tumor, and Genital Anomalies 48 25
 
Dds 25 70
Nephropathy Associated with Male Pseudohermaphroditism and Wilms' Tumor 48
Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor 48

Characteristics:

Orphanet epidemiological data:

54
denys-drash syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
denys-drash syndrome:
Inheritance: autosomal dominant inheritance, somatic mutation

Classifications:



External Ids:

OMIM52 194080
Disease Ontology11 DOID:3764
MeSH39 D030321
NCIt45 C84668
Orphanet54 ORPHA220
SNOMED-CT62 236385009
MESH via Orphanet40 D030321
UMLS via Orphanet69 C0950121
ICD10 via Orphanet31 N04.1
MedGen37 C0950121

Summaries for Denys-Drash Syndrome

About this section
NIH Rare Diseases:48 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 gastric cancer, and has symptoms including ambiguous genitalia, male, male pseudohermaphroditism and ambiguous genitalia, female. An important gene associated with Denys-Drash Syndrome is WT1 (Wilms Tumor 1), and among its related pathways are Nephrin interactions and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney and testes, and related mouse phenotypes are endocrine/exocrine gland and cardiovascular system.

Disease Ontology:11 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:25 Denys-Drash syndrome is a condition that affects the kidneys and genitalia.

UniProtKB/Swiss-Prot:70 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:71 Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by... more...

Description from OMIM:52 194080

Related Diseases for Denys-Drash Syndrome

About this section

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1frasier syndrome30.2BAX, CD2AP, NPHS1, NPHS2, NR5A1, PAX2
2gastric cancer29.1CD2AP, NPHS1, NPHS2, PAX2, WT1
3dentin dysplasia, type ii10.9
4diastrophic dysplasia10.9
5dentin dysplasia, type i, with microdontia and misshapen teeth10.9
6mohr-tranebjaerg syndrome10.9
7dissociative disorder10.8
8darier disease10.7
9dentin dysplasia10.7
10nephrotic syndrome10.2
11gonadal dysgenesis10.2
12mucinous adenofibroma10.2PAX2, WT1
13transient pseudohypoaldosteronism10.2NPHS1, WT1
14anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis10.2PAX2, WT1
15gonadoblastoma10.2
16diffuse mesangial sclerosis10.2
17meninges hemangiopericytoma10.2PAX2, WT1
18pauci-immune glomerulonephritis10.1NPHS1, NPHS2
19glaucoma 1, open angle, e10.1NPHS1, NPHS2
20aphthous stomatitis10.1NPHS1, NPHS2
21gestational trophoblastic neoplasm10.1NR5A1, WT1
22renal agenesis, unilateral10.1CD2AP, NPHS2
23nodular tenosynovitis10.1PAX2, WT1
24cone dystrophy10.1NR5A1, WT1
25hypertrichosis of eyelid10.1NPHS1, NPHS2
26sex differentiation disease10.0NR5A1, WT1
27pseudohermaphroditism10.0
28mixed germ cell-sex cord neoplasm10.0NPHS1, NPHS2
29familial nephrotic syndrome10.0NPHS1, NPHS2, WT1
30lymphoma10.0
31hemolytic-uremic syndrome10.0
32pyloric stenosis10.0
33mixed gonadal dysgenesis10.0
34congenital diaphragmatic hernia10.0
35kidney disease10.0
36septate vagina10.0
37hypothyroidism, congenital, nongoitrous, 310.0NPHS1, NPHS2
38muscular dystrophy-dystroglycanopathy , type b, 110.0CD2AP, NPHS2, PAX2
39coronary artery disease10.0
40artery disease10.0
41sick sinus syndrome 310.0CD2AP, NPHS1, NPHS2
42hemiplegia10.0CD2AP, NPHS1, NPHS2
43biliary cirrhosis, primary, 29.9CD2AP, NPHS1, NPHS2
44endotheliitis9.9
4546 xx gonadal dysgenesis9.9NR5A1, WT1
46myocardial infarction9.8
47congenital torticollis9.8CD2AP, NPHS1, NPHS2, WT1
48focal segmental glomerulosclerosis9.8CD2AP, NPHS1, NPHS2, WT1
49malignant hyperthermia susceptibility 19.8CD2AP, NPHS1, NPHS2, WT1
50transient refractive change9.8CD2AP, NPHS1, NPHS2, WT1

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



Diseases related to denys-drash syndrome

Symptoms & Phenotypes for Denys-Drash Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

194080

Clinical features from OMIM:

194080

Human phenotypes related to Denys-Drash Syndrome:

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 ambiguous genitalia, male64 HP:0000033
2 male pseudohermaphroditism64 HP:0000037
3 ambiguous genitalia, female64 HP:0000061
4 focal segmental glomerulosclerosis64 HP:0000097
5 nephrotic syndrome64 HP:0000100
6 nephropathy64 HP:0000112
7 gonadal dysgenesis64 HP:0000133
8 ovarian gonadoblastoma64 HP:0000149
9 congenital diaphragmatic hernia64 HP:0000776
10 hypertension64 HP:0000822
11 diffuse mesangial sclerosis64 HP:0001967
12 nephroblastoma64 HP:0002667
13 gonadal tissue inappropriate for external genitalia or chromosomal sex64 HP:0003248
14 stage 5 chronic kidney disease64 HP:0003774
15 true hermaphroditism64 HP:0010459

MGI Mouse Phenotypes related to Denys-Drash Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.9BAX, CD2AP, NR5A1, PAX2, WT1
2MP:00053858.2CD2AP, NPHS2, NR5A1, PAX2, PDGFA, WT1
3MP:00053897.8BAX, NR5A1, PAX2, PDGFA, WT1
4MP:00053677.8BAX, CD2AP, NPHS1, NPHS2, PAX2, PDGFA
5MP:00053767.6BAX, CD2AP, NPHS1, NPHS2, NR5A1, PDGFA
6MP:00107687.2BAX, CD2AP, NPHS1, NPHS2, NR5A1, PAX2

Drugs & Therapeutics for Denys-Drash Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated DiseasesCompletedNCT01252901
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Denys-Drash Syndrome


Cochrane evidence based reviews: denys-drash syndrome

Genetic Tests for Denys-Drash Syndrome

About this section

Genetic tests related to Denys-Drash Syndrome:

id Genetic test Affiliating Genes
1 Drash Syndrome27
2 Denys-Drash Syndrome24 WT1

Anatomical Context for Denys-Drash Syndrome

About this section

MalaCards organs/tissues related to Denys-Drash Syndrome:

36
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

Publications for Denys-Drash Syndrome

About this section

Articles related to Denys-Drash Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome. (28081536)
2017
2
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications. (27596598)
2016
3
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome. (26882358)
2016
4
Bilateral Wilms' tumors in an infant with Denys-Drash syndrome and rarely seen truncation mutation in the WT1 gene-exon 6. (26628814)
2015
5
An unusual presentation of denys-drash syndrome due to bigenic disease. (24379226)
2014
6
Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome. (24625882)
2014
7
Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate. (25077094)
2014
8
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. (23715653)
2013
9
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. (23729537)
2013
10
A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome. (22876585)
2012
11
Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene. (21434831)
2011
12
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
13
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. (21552011)
2011
14
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. (21851196)
2011
15
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. (19797313)
2010
16
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. (20562648)
2010
17
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. (18197048)
2008
18
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. (18203154)
2008
19
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). (18040647)
2008
20
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
21
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. (17267748)
2007
22
A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1. (17295355)
2007
23
Case report: Denys- Drash syndrome. (18076855)
2007
24
Denys-Drash syndrome (DDS). (16823575)
2006
25
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. (16932893)
2006
26
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. (16303781)
2006
27
Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. (15910385)
2005
28
Gonadal effects of a mouse Denys-Drash syndrome mutation. (16245160)
2005
29
Clinical course of congenital nephrotic syndrome and Denys-Drash syndrome in Japan. (16354210)
2005
30
Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. (16003530)
2005
31
Denys-Drash syndrome. (15758579)
2005
32
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. (15503171)
2005
33
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. (15509792)
2004
34
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. (15349765)
2004
35
Denys-Drash syndrome. (15026863)
2004
36
The dysregulated glomerular cell growth in Denys-Drash syndrome. (15232745)
2004
37
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. (12915483)
2003
38
Wilms tumor in a pediatric renal transplant recipient with unexpected Denys-Drash syndrome. (12493420)
2002
39
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. (12161615)
2002
40
A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. (11933209)
2002
41
A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. (12138137)
2002
42
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. (11519891)
2001
43
Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome. (11393579)
2001
44
Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. (11322369)
2001
45
Genetic analysis of two female patients with incomplete Denys-Drash syndrome. (11228042)
2000
46
Hemolytic uremic syndrome associated with Denys-Drash syndrome. (11045393)
2000
47
A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. (10799199)
2000
48
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. (10805477)
2000
49
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. (10738002)
2000
50
Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome. (10586431)
1999

Variations for Denys-Drash Syndrome

About this section

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

70 (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 13)
id Gene Variation Type Significance SNP ID Assembly Location
1WT1NM_ 024426.4(WT1): c.1384C> T (p.Arg462Trp)SNVPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
2WT1NM_ 024426.4(WT1): c.1301G> A (p.Arg434His)SNVPathogenicrs121907901GRCh37Chr 11, 32414250: 32414250
3WT1NM_ 024426.4(WT1): c.1391A> G (p.Asp464Gly)SNVPathogenicrs121907902GRCh37Chr 11, 32413559: 32413559
4WT1NM_ 024426.4(WT1): c.1390G> A (p.Asp464Asn)SNVPathogenicrs28941778GRCh37Chr 11, 32413560: 32413560
5WT1NM_ 024426.4(WT1): c.1385G> C (p.Arg462Pro)SNVPathogenicrs121907903GRCh37Chr 11, 32413565: 32413565
6WT1NM_ 024426.4(WT1): c.1193G> A (p.Cys398Tyr)SNVPathogenicrs121907904GRCh37Chr 11, 32417859: 32417859
7WT1NM_ 024426.4(WT1): c.1432+5G> ASNVPathogenicrs587776576GRCh38Chr 11, 32391967: 32391967
8WT1NM_ 024426.4(WT1): c.1372C> T (p.Arg458Ter)SNVPathogenicrs121907909GRCh37Chr 11, 32413578: 32413578
9WT1NM_ 024426.4(WT1): c.1333C> T (p.His445Tyr)SNVPathogenicrs28942089GRCh37Chr 11, 32414218: 32414218
10WT1NM_ 024426.4(WT1): c.1282T> G (p.Cys428Gly)SNVPathogenicrs121907905GRCh37Chr 11, 32414269: 32414269
11WT1NM_ 024426.4(WT1): c.1288C> T (p.Arg430Ter)SNVPathogenicrs121907906GRCh37Chr 11, 32414263: 32414263
12WT1NM_ 024426.4(WT1): c.1323C> G (p.His441Gln)SNVPathogenicrs121907907GRCh37Chr 11, 32414228: 32414228
13WT1NM_ 001198551.1(WT1): c.161delC (p.Pro54Argfs)deletionPathogenicrs1060501253GRCh38Chr 11, 32428031: 32428031

Copy number variations for Denys-Drash Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
153562113100000036400000Copy numberWT1Denys-drash syndrome
253587113100000036400000Copy numberWT1Denys-drash syndrome

Expression for genes affiliated with Denys-Drash Syndrome

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

Pathways for genes affiliated with Denys-Drash Syndrome

About this section

GO Terms for genes affiliated with Denys-Drash Syndrome

About this section

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 15)
idNameGO IDScoreTop Affiliating Genes
1branching involved in ureteric bud morphogenesisGO:000165810.4PAX2, WT1
2camera-type eye developmentGO:004301010.4PAX2, WT1
3glomerular basement membrane developmentGO:003283610.3NPHS1, WT1
4mesenchymal to epithelial transitionGO:006023110.3PAX2, WT1
5metanephric epithelium developmentGO:007220710.3PAX2, WT1
6metanephric mesenchyme developmentGO:007207510.3PAX2, WT1
7excretionGO:000758810.2NPHS1, NPHS2
8germ cell developmentGO:000728110.2BAX, WT1
9adrenal gland developmentGO:003032510.2NR5A1, WT1
10negative regulation of female gonad developmentGO:200019510.0NR5A1, WT1
11positive regulation of male gonad developmentGO:200002010.0NR5A1, WT1
12sex determinationGO:00075309.8NR5A1, WT1
13male gonad developmentGO:00085849.5BAX, NR5A1, WT1
14tissue developmentGO:00098889.5NR5A1, WT1
15response to woundingGO:00096119.5BAX, PDGFA

Sources for Denys-Drash Syndrome

About this section
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