DDS
MCID: DNY001
MIFTS: 58

Denys-Drash Syndrome (DDS) malady

Nephrological, Reproductive, Endocrine, Fetal, Cancer categories

Summaries for Denys-Drash Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Denys-Drash Syndrome, also known as drash syndrome, is related to wilms tumor and diffuse mesangial sclerosis, and has symptoms including renal disease/nephropathy, nephrotic syndrome and proteinuria. An important gene associated with Denys-Drash Syndrome is WT1 (Wilms tumor 1), and among its related pathways are Cell-cell junction organization and Nephrin/Neph1 signaling in the kidney podocyte. The compounds dmrt and puromycin aminonucleoside have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are renal/urinary system and cardiovascular system.

Disease Ontology:8 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:21 Denys-Drash syndrome is a condition that affects the kidneys and genitalia.

Wikipedia:64 Denys–Drash syndrome (DDS) or Drash syndrome is very rare disorder or syndrome characterized by... more...

Description from OMIM:47 194080

Aliases & Classifications for Denys-Drash Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Nephrological, Reproductive, Endocrine


Characteristics (Orphanet epidemiological data):

49
denys-drash syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

denys-drash syndrome 8 9 43 20 21 47 10 45 49 61
drash syndrome 43 22 21 49
wilms tumor and pseudohermaphroditism 43 21 49
nephropathy, wilms tumor, and genital anomalies 43 21
nephropathy associated with male pseudohermaphroditism and wilms' tumor 43
pseudohermaphroditism, nephron disorder and wilms' tumor 43
dds 21


External Ids:

Disease Ontology8 DOID:3764
NCIt40 C84668
OMIM47 194080
SNOMED-CT57 236385009
MESH via Orphanet36 D030321
ICD10 via Orphanet26 N04.1
SNOMED-CT via Orphanet58 236385009
UMLS via Orphanet62 C0950121

Related Diseases for Denys-Drash Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor31.2PDGFA, WT1, NPHS1, NPHS2, NR5A1, CD2AP
2diffuse mesangial sclerosis30.6PAX2, NPHS2, NPHS1, WT1
3mixed gonadal dysgenesis30.4SRD5A1, SRY
4diabetic nephropathy30.3PDGFA, NPHS1, NPHS2, TGFB1
5nephrosis30.0NPHS2, NPHS1
6nephritis30.0NPHS1, NPHS2
7n syndrome10.9
8renal wilms' tumor10.5
9gonadoblastoma10.4
10char syndrome10.4
11coronary artery disease,10.3
12klinefelter's syndrome10.3
13burkitt's lymphoma10.3
14congenital diaphragmatic hernia10.3
15potter's syndrome10.3
16hemolytic-uremic syndrome10.3
17kid syndrome10.3
18hernia, congenital diaphragmatic 110.3
19lepromatous leprosy10.1
20coronary restenosis10.1
21acute myocardial infarction10.1
22intussusception10.0
23conn's syndrome10.0
24sertoli-leydig cell tumor10.0WT1
25endometriosis10.0NR5A1
26hypogonadism10.0NR5A1
27prolactinoma10.0NR5A1
28hyperandrogenism10.0SRD5A1
29amenorrhea10.0SRY
30frasier syndrome10.0SRY, WT1
31pseudohermaphroditism10.0SRY, WT1
32leydig cell tumor10.0NR5A1, SRD5A1
33kidney cancer10.0PAX2
3446xx sex reversal 110.0SRD5A1, SRY
35androgen insensitivity syndrome10.0SRD5A1, SRY
3646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0SRY, NR5A1
37gonadal dysgenesis10.0SRY, NR5A1, WT1
38infertility10.0SRY, NR5A1
39insulin resistance10.0NPHS1
40sex cord-gonadal stromal tumor10.0WT1, NR5A1
41congenital adrenal hyperplasia10.0NR5A1, SRY, SRD5A1
42nail-patella syndrome10.0PAX2, CD2AP, NPHS2
43hypertension10.0TGFB1
44cryptorchidism10.0WT1, NR5A1, SRY, SRD5A1
45hypospadias10.0WT1, NR5A1, SRY, SRD5A1
46adenoma10.0SRD5A1, PAX2, NR5A1
47lipoid nephrosis10.0NPHS1, NPHS2, CD2AP
48membranous glomerulonephritis10.0NPHS1, NPHS2, CD2AP
49choriocarcinoma10.0NR5A1, PDGFA
50primary hyperoxaluria10.0TGFB1, PAX2, WT1

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



Diseases related to denys-drash syndrome

Clinical Features for Denys-Drash Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

194080

Clinical synopsis from OMIM:

194080

Symptoms:

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

Drugs & Therapeutics for Denys-Drash Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Denys-Drash Syndrome

Drug clinical trials:

Search ClinicalTrials for Denys-Drash Syndrome

Search NIH Clinical Center for Denys-Drash Syndrome

Search CenterWatch for Denys-Drash Syndrome

Genetic Tests for Denys-Drash Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Denys-Drash Syndrome:

id Genetic test Affiliating Genes
1 Denys-drash Syndrome20 WT1
2 Drash Syndrome22

Anatomical Context for Denys-Drash Syndrome

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Denys-Drash Syndrome:

33
Kidney

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Animal Models for Denys-Drash Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Denys-Drash Syndrome

Sources:
51PubMed
See all sources

Articles related to Denys-Drash Syndrome:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
An unusual presentation of denys-drash syndrome due to bigenic disease. (24379226)
2014
2
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. (23715653)
2013
3
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. (23729537)
2013
4
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. (18197048)
2008
5
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G &gt; A(Arg366His) mutation. (18203154)
2008
6
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
7
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. (17267748)
2007
8
Case report: Denys- Drash syndrome. (18076855)
2007
9
A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1. (17295355)
2007
10
Denys-Drash syndrome (DDS). (16823575)
2006
11
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. (16932893)
2006
12
Denys-Drash syndrome. (15758579)
2005
13
Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. (16003530)
2005
14
Denys-Drash syndrome. (15026863)
2004
15
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. (15349765)
2004
16
The dysregulated glomerular cell growth in Denys-Drash syndrome. (15232745)
2004
17
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. (15509792)
2004
18
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. (12161615)
2002
19
Wilms tumor in a pediatric renal transplant recipient with unexpected Denys-Drash syndrome. (12493420)
2002
20
A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. (12138137)
2002
21
A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. (11933209)
2002
22
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. (11519891)
2001
23
Clinical spectrum of Denys-Drash and Frasier syndrome. (11354777)
2001
24
Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. (11322369)
2001
25
Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome. (11393579)
2001
26
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. (10945603)
2000
27
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? (10762296)
2000
28
Genetic analysis of two female patients with incomplete Denys-Drash syndrome. (11228042)
2000
29
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. (10077614)
1999
30
Unexpected Wilms' tumor in a pediatric renal transplant recipient: suspected Denys-Drash syndrome. (10371996)
1999
31
Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome. (10586431)
1999
32
Renal transplantation in the management of bilateral Wilms' tumour (BWT) and of Denys-Drash syndrome (DDS). (9641183)
1998
33
No evidence of WT1 involvement in a Burkitt's lymphoma in a patient with Denys-Drash syndrome. (9681076)
1998
34
Elevated maternal serum and amniotic fluid alpha-fetoprotein levels in the Denys-Drash syndrome. (8844005)
1996
35
Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1. (8810912)
1996
36
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases? (7556327)
1995
37
Denys-Drash syndrome. (8772891)
1995
38
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. (7795587)
1995
39
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. (7959750)
1994
40
The Denys-Drash syndrome. (8071974)
1994
41
WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin. (8112732)
1994
42
Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome. (8281163)
1993
43
A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys-Drash syndrome. (8281164)
1993
44
Distinct molecular origins for Denys-Drash and Frasier syndromes. (8386697)
1993
45
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
46
Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. (8229473)
1993
47
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. (8388765)
1993
48
Molecular analysis of two Japanese cases of Denys-Drash syndrome. (8295405)
1993
49
A novel zinc finger mutation in a patient with Denys-Drash syndrome. (8111391)
1993
50
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. (1655284)
1991

Genetic Variations for Denys-Drash Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Denys-Drash Syndrome:

63 (show all 24)
id Symbol AA change Variation 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

Expression for genes affiliated with Denys-Drash Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Denys-Drash Syndrome

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

Pathways for genes affiliated with Denys-Drash Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database
See all sources

Pathways related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8CD2AP, NPHS2, NPHS1
29.8CD2AP, NPHS2, NPHS1
39.8CD2AP, NPHS2, NPHS1

Compounds for genes affiliated with Denys-Drash Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1dmrt4510.1SRY, NR5A1, WT1
2puromycin aminonucleoside4510.0NPHS1, NPHS2, CD2AP
3ribonucleic acid459.6PDGFA, WT1, NR5A1, TGFB1
4estradiol45 11 2411.2SRD5A1, SRY, NR5A1, SAFB
5testosterone45 60 11 2412.0SAFB, WT1, NR5A1, SRY, SRD5A1
6vitamin d458.9SAFB, PDGFA, WT1, NR5A1, SRD5A1, TGFB1
7oligonucleotide458.9SAFB, PDGFA, WT1, NR5A1, SRY, TGFB1
8zinc45 249.7KLF10, SAFB, PDGFA, WT1, MECOM, NR5A1
9estrogen458.6KLF10, SAFB, PDGFA, WT1, NR5A1, SRD5A1
10steroid458.6SRD5A1, SRY, CD2AP, NR5A1, NPHS2, NPHS1
11retinoic acid45 249.6SAFB, PDGFA, WT1, NPHS1, NR5A1, SRD5A1
12serine458.5SAFB, WT1, NPHS1, NR5A1, PAX2, SRY
13tyrosine458.3SAFB, PDGFA, WT1, NPHS1, NPHS2, PAX2

GO Terms for genes affiliated with Denys-Drash Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:03605710.0NPHS2, NPHS1
2transport vesicleGO:0301338.6YIPF3, YIPF1, YIPF2

Biological processes related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of female gonad developmentGO:200019510.4NR5A1, WT1
2metanephric epithelium developmentGO:07220710.4PAX2, WT1
3mesenchymal to epithelial transitionGO:06023110.4WT1, PAX2
4metanephric mesenchyme developmentGO:07207510.3WT1, PAX2
5glomerular basement membrane developmentGO:03283610.3NPHS1, WT1
6sex determinationGO:00753010.2WT1, SRD5A1
7positive regulation of male gonad developmentGO:200002010.2SRY, NR5A1, WT1
8negative regulation of programmed cell deathGO:04306910.1PAX2, MECOM
9male gonad developmentGO:00858410.0WT1, NR5A1, SRY
10hormone metabolic processGO:0424459.8NR5A1, SAFB
11positive regulation of branching involved in ureteric bud morphogenesisGO:0901909.7PAX2, TGFB1
12positive regulation of transcription, DNA-dependentGO:0458939.6TGFB1, SRY, PAX2, MECOM, WT1
13transforming growth factor beta receptor signaling pathwayGO:0071799.6TGFB1, PDGFA, KLF10
14negative regulation of transcription from RNA polymerase II promoterGO:0001229.5KLF10, WT1, PAX2, SRY, TGFB1
15embryo developmentGO:0097909.4PDGFA, SCEL, TGFB1
16cell differentiationGO:0301549.3YIPF3, MECOM, NR5A1, SRY, SRD5A1
17positive regulation of transcription from RNA polymerase II promoterGO:0459449.0TGFB1, PAX2, NR5A1, MECOM, SAFB

Molecular functions related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1C2H2 zinc finger domain bindingGO:0707429.8WT1, PAX2
2protein bindingGO:0055157.0KLF10, SAFB, WT1, NPHS1, NPHS2, SCEL

Products for genes affiliated with Denys-Drash Syndrome

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Sources for Denys-Drash Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet