DDS
MCID: DNY001
MIFTS: 70

Denys-Drash Syndrome (DDS) malady

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

Summaries for Denys-Drash Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 gonadal dysgenesis and pseudohermaphroditism, 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 testes, 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:63 Denys–Drash syndrome (DDS) or Drash syndrome is very rare disorder or syndrome characterized by... more...

Description from OMIM:46 194080

Aliases & Classifications for Denys-Drash Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
denys-drash syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

denys-drash syndrome 8 9 42 20 21 46 10 44 48 60
drash syndrome 42 22 21 48
wilms tumor and pseudohermaphroditism 42 21 48
nephropathy, wilms tumor, and genital anomalies 42 21
nephropathy associated with male pseudohermaphroditism and wilms' tumor 42
pseudohermaphroditism, nephron disorder and wilms' tumor 42
dds 21


External Ids:

Disease Ontology8 DOID:3764
NCIt39 C84668
OMIM46 194080
SNOMED-CT56 236385009
MESH via Orphanet35 D030321
ICD10 via Orphanet26 N04.1
SNOMED-CT via Orphanet57 236385009
UMLS via Orphanet61 C0950121

Related Diseases for Denys-Drash Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Denys-Drash Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis30.7WT1, NR5A1, SRY
2pseudohermaphroditism30.6WT1, SRY
3nephrotic syndrome30.6NPHS1, PAX2, CD2AP, NPHS2, WT1
4mixed gonadal dysgenesis30.4SRY, SRD5A1
5hypertension30.4TGFB1
6diabetic nephropathy30.3PDGFA, TGFB1, NPHS1, NPHS2
7glomerulonephritis30.0NPHS2, TGFB1, NPHS1, CD2AP
8renal wilms' tumor10.5
9gonadoblastoma10.4
10burkitt's lymphoma10.3
11congenital diaphragmatic hernia10.3
12hemolytic-uremic syndrome10.3
13gonadal disease10.3
14kidney disease10.3
15pyloric stenosis10.3
16coronary artery disease10.3
17myocardial infarction10.2
18leprosy10.1
19lepromatous leprosy10.0
20coronary restenosis10.0
21acute myocardial infarction10.0
22diabetes mellitus10.0
23obesity10.0
24sarcoidosis10.0
25intussusception10.0
26end stage renal failure10.0
27sertoli-leydig cell tumor10.0WT1
28endometriosis10.0NR5A1
29hypogonadism10.0NR5A1
30prolactinoma10.0NR5A1
31hyperandrogenism10.0SRD5A1
32amenorrhea10.0SRY
33frasier syndrome10.0SRY, WT1
34leydig cell tumor10.0NR5A1, SRD5A1
35kidney cancer10.0PAX2
3646xx sex reversal 110.0SRY, SRD5A1
37androgen insensitivity syndrome10.0SRD5A1, SRY
3846,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0NR5A1, SRY
39nephrosis10.0NPHS2, NPHS1
40infertility10.0NR5A1, SRY
41insulin resistance10.0NPHS1
42sex cord-gonadal stromal tumor10.0NR5A1, WT1
43congenital adrenal hyperplasia10.0SRD5A1, NR5A1, SRY
44nephritis10.0NPHS1, NPHS2
45nail-patella syndrome10.0NPHS2, CD2AP, PAX2
46diffuse mesangial sclerosis10.0NPHS2, WT1, NPHS1, PAX2
47hypospadias10.0SRY, SRD5A1, NR5A1, WT1
48cryptorchidism10.0SRD5A1, SRY, NR5A1, WT1
49adenoma10.0SRD5A1, PAX2, NR5A1
50lipoid nephrosis10.0CD2AP, NPHS1, NPHS2

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



Diseases related to denys-drash syndrome

Clinical Features for Denys-Drash Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

194080

Clinical synopsis from OMIM:

194080

Symptoms:

48 (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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Denys-Drash Syndrome:

32
Kidney, Testes

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

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36MGI
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MGI Mouse Phenotypes related to Denys-Drash Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9PDGFA, WT1, NPHS1, NPHS2, CD2AP, PAX2
2MP:00053858.6PDGFA, WT1, NPHS2, MECOM, NR5A1, CD2AP
3MP:00053808.6PDGFA, WT1, MECOM, NR5A1, ZNF274, PAX2
4MP:00053798.3SAFB, WT1, NR5A1, ZNF274, PAX2, SRY
5MP:00053787.9PDGFA, WT1, NPHS2, MECOM, NR5A1, CD2AP
6MP:00053767.8KLF10, SAFB, PDGFA, WT1, NPHS1, NPHS2
7MP:00053897.8TGFB1, SAFB, PDGFA, WT1, MECOM, NR5A1
8MP:00053847.7KLF10, SAFB, WT1, MECOM, NR5A1, CD2AP
9MP:00107687.4NPHS2, NPHS1, WT1, PDGFA, SAFB, MECOM

Publications for Denys-Drash Syndrome

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50PubMed
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Articles related to Denys-Drash Syndrome:

(show top 50)    (show all 80)
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
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
4
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. (21851196)
2011
5
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. (21552011)
2011
6
Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G&gt;A mutation in the WT1 gene. (21434831)
2011
7
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. (19797313)
2010
8
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G &gt; A(Arg366His) mutation. (18203154)
2008
9
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). (18040647)
2008
10
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
11
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. (17267748)
2007
12
Case report: Denys- Drash syndrome. (18076855)
2007
13
A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1. (17295355)
2007
14
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. (16303781)
2006
15
Denys-Drash syndrome (DDS). (16823575)
2006
16
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. (16932893)
2006
17
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. (15503171)
2005
18
Denys-Drash syndrome. (15758579)
2005
19
Denys-Drash syndrome. (15026863)
2004
20
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. (15349765)
2004
21
The dysregulated glomerular cell growth in Denys-Drash syndrome. (15232745)
2004
22
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. (15509792)
2004
23
A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. (12138137)
2002
24
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. (11519891)
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
A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. (10799199)
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
A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome. (8956030)
1996
35
Elevated maternal serum and amniotic fluid alpha-fetoprotein levels in the Denys-Drash syndrome. (8844005)
1996
36
Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1. (8810912)
1996
37
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases? (7556327)
1995
38
Diaphragmatic hernia in Denys-Drash syndrome. (7645607)
1995
39
Denys-Drash syndrome. (8772891)
1995
40
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. (7795587)
1995
41
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. (7959750)
1994
42
The Denys-Drash syndrome. (8071974)
1994
43
A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome. (8098976)
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
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

Genetic Variations for Denys-Drash Syndrome

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Genetic disease variations for Denys-Drash Syndrome:

62 (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

Expression for genes affiliated with Denys-Drash Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 37NCBI BioSystems Database
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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

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1dmrt4410.1SRY, NR5A1, WT1
2puromycin aminonucleoside4410.0NPHS1, NPHS2, CD2AP
3ribonucleic acid449.6PDGFA, WT1, NR5A1, TGFB1
4estradiol44 11 2411.2SRD5A1, SRY, NR5A1, SAFB
5testosterone44 59 11 2412.0SAFB, WT1, NR5A1, SRY, SRD5A1
6vitamin d448.9SAFB, PDGFA, WT1, NR5A1, SRD5A1, TGFB1
7oligonucleotide448.9SAFB, PDGFA, WT1, NR5A1, SRY, TGFB1
8zinc44 249.7KLF10, SAFB, PDGFA, WT1, MECOM, NR5A1
9estrogen448.6KLF10, SAFB, PDGFA, WT1, NR5A1, SRD5A1
10steroid448.6SRD5A1, SRY, CD2AP, NR5A1, NPHS2, NPHS1
11retinoic acid44 249.6SAFB, PDGFA, WT1, NPHS1, NR5A1, SRD5A1
12serine448.5SAFB, WT1, NPHS1, NR5A1, PAX2, SRY
13tyrosine448.3SAFB, PDGFA, WT1, NPHS1, NPHS2, PAX2

GO Terms for genes affiliated with Denys-Drash Syndrome

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16Gene Ontology
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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:0707429.8PAX2, WT1
2protein bindingGO:0055157.0SAFB, WT1, NPHS1, NPHS2, SCEL, MECOM

Products for genes affiliated with Denys-Drash Syndrome

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Sources for Denys-Drash Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet