DDS
MCID: DNY001
MIFTS: 68

Denys-Drash Syndrome (DDS) malady

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

Summaries for Denys-Drash Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 gonadal dysgenesis, 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 TGF-beta/Smad Signaling and Nephrin interactions. The compounds dmrt and hydroxysteroid have been mentioned in the context of this disorder. Affiliated tissues include kidney and testes, and related mouse phenotypes are renal/urinary system and respiratory system.

Disease Ontology:9 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:22 Denys-Drash syndrome is a condition that affects the kidneys and genitalia.

Wikipedia:66 Denys?Drash syndrome (DDS) or Drash syndrome is very rare disorder or syndrome characterized by gonadal... more...

Description from OMIM:48 194080

Aliases & Classifications for Denys-Drash Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 23GTR, 41NCIt, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
denys-drash syndrome:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

denys-drash syndrome 9 10 44 21 22 48 11 46 50 63
drash syndrome 44 23 22 50
wilms tumor and pseudohermaphroditism 44 22 50
nephropathy, wilms tumor, and genital anomalies 44 22
nephropathy associated with male pseudohermaphroditism and wilms' tumor 44
pseudohermaphroditism, nephron disorder and wilms' tumor 44
dds 22


External Ids:

Disease Ontology9 DOID:3764
NCIt41 C84668
OMIM48 194080
SNOMED-CT59 236385009
MESH via Orphanet37 D030321
ICD10 via Orphanet27 N04.1
SNOMED-CT via Orphanet60 236385009
UMLS via Orphanet64 C0950121

Related Diseases for Denys-Drash Syndrome

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18GeneCards, 19GeneDecks
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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 97)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor31.0WT1, CD2AP, NPHS2, NPHS1, NR5A1, PDGFA
2gonadal dysgenesis31.0NR5A1, WT1
3diffuse mesangial sclerosis30.7NPHS2, PAX2, NPHS1, WT1
4nephrotic syndrome30.6CD2AP, NPHS1, NPHS2, PAX2, WT1
5glomerulosclerosis30.5PDGFA, NPHS1, NPHS2, WT1, CD2AP, TGFB1
6diabetic nephropathy30.3NPHS2, NPHS1, TGFB1, PDGFA
7nephrosis30.2NPHS1, NPHS2
8glomerulonephritis30.0NPHS1, TGFB1, NPHS2, CD2AP
9gonadoblastoma10.5
10pseudohermaphroditism10.4
11burkitt's lymphoma10.3
12hemolytic-uremic syndrome10.3
13congenital diaphragmatic hernia10.3
14mixed gonadal dysgenesis10.3
15kidney disease10.3
16pyloric stenosis10.3
17coronary artery disease10.3
18artery disease10.3
19endotheliitis10.3
20hypertension10.3
21myocardial infarction10.2
22leprosy10.2
2346xy sex reversal 310.1NR5A1
24frasier syndrome10.1WT1
25sex cord-gonadal stromal tumor10.1WT1, NR5A1
26lepromatous leprosy10.1
27acute myocardial infarction10.1
28diabetes mellitus10.1
29obesity10.1
30sarcoidosis10.1
31abrikosov's tumor10.1NR5A1, WT1
32intussusception10.1
33end stage renal failure10.1
34nephritis10.1
35hypospadias10.1SRD5A1, NR5A1, WT1
36cryptorchidism10.1NR5A1, SRD5A1, WT1
37congenital adrenal hyperplasia10.1SRD5A1, NR5A1
38addison's disease10.1NR5A1, WT1
39pallister-hall syndrome10.0MECOM, KLF10
40leydig cell tumor10.0SRD5A1, NR5A1
41nail-patella syndrome10.0NPHS2, PAX2, CD2AP
42ureteral obstruction10.0PDGFA, TGFB1
43klinefelter's syndrome10.0SRD5A1, NR5A1
44lipoid nephrosis10.0NPHS2, CD2AP, NPHS1
45gingival overgrowth10.0TGFB1, SRD5A1
46membranous glomerulonephritis10.0NPHS1, NPHS2, CD2AP
47primary hyperoxaluria10.0WT1, PAX2, TGFB1
48congenital nephrotic syndrome finnish type10.0CD2AP, WT1, NPHS1, NPHS2
49focal segmental glomerulosclerosis10.0NPHS1, NPHS2, PAX2, WT1, CD2AP
50osteosarcoma10.0KLF10, TGFB1, SAFB, PDGFA

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

194080

Clinical features from OMIM:

194080

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Denys-Drash Syndrome:

id Genetic test Affiliating Genes
1 Denys-Drash Syndrome21 WT1
2 Drash Syndrome23

Anatomical Context for Denys-Drash Syndrome

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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Denys-Drash Syndrome:

34
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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38MGI
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Publications for Denys-Drash Syndrome

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53PubMed
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Articles related to Denys-Drash Syndrome:

(show top 50)    (show all 71)
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
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
5
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. (21851196)
2011
6
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. (19797313)
2010
7
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. (20562648)
2010
8
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. (18197048)
2008
9
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G &gt; A(Arg366His) mutation. (18203154)
2008
10
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). (18040647)
2008
11
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
12
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. (17267748)
2007
13
Case report: Denys- Drash syndrome. (18076855)
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
Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. (15910385)
2005
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
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. (12915483)
2003
23
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. (12161615)
2002
24
Wilms tumor in a pediatric renal transplant recipient with unexpected Denys-Drash syndrome. (12493420)
2002
25
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. (11519891)
2001
26
Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. (11322369)
2001
27
Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome. (11393579)
2001
28
Hemolytic uremic syndrome associated with Denys-Drash syndrome. (11045393)
2000
29
A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. (10799199)
2000
30
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. (10077614)
1999
31
Unexpected Wilms' tumor in a pediatric renal transplant recipient: suspected Denys-Drash syndrome. (10371996)
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
Regulation of renal EGF receptor expression is normal in Denys-Drash syndrome. (9291179)
1997
35
Atypical presentation of Denys-Drash syndrome in a female with a novel Wt1 gene mutation. (9125334)
1996
36
A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome. (8956030)
1996
37
Elevated maternal serum and amniotic fluid alpha-fetoprotein levels in the Denys-Drash syndrome. (8844005)
1996
38
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases? (7556327)
1995
39
Aberrant proteoglycan composition of the glomerular basement membrane in a patient with Denys-Drash syndrome. (8808212)
1995
40
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. (7959750)
1994
41
The Denys-Drash syndrome. (8071974)
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
A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome. (8098976)
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
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Denys-Drash Syndrome:

65 (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:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1WT1NM_000378.4(WT1): c.1333C> T (p.Arg445Trp)single nucleotide variantPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
2WT1NM_000378.4(WT1): c.1250G> A (p.Arg417His)single nucleotide variantPathogenicrs121907901GRCh37Chr 11, 32414250: 32414250
3WT1NM_000378.4(WT1): c.1340A> G (p.Asp447Gly)single nucleotide variantPathogenicrs121907902GRCh37Chr 11, 32413559: 32413559
4WT1NM_000378.4(WT1): c.1339G> A (p.Asp447Asn)single nucleotide variantPathogenicrs28941778GRCh37Chr 11, 32413560: 32413560
5WT1NM_000378.4(WT1): c.1334G> C (p.Arg445Pro)single nucleotide variantPathogenicrs121907903GRCh37Chr 11, 32413565: 32413565
6WT1NM_000378.4(WT1): c.1142G> A (p.Cys381Tyr)single nucleotide variantPathogenicrs121907904GRCh37Chr 11, 32417859: 32417859
7WT1NM_001198551.1(WT1): c.787+14G> Asingle nucleotide variantPathogenicGRCh38Chr 11, 32391967: 32391967
8WT1NM_000378.4(WT1): c.1282C> T (p.His428Tyr)single nucleotide variantPathogenicrs28942089GRCh37Chr 11, 32414218: 32414218
9WT1NM_000378.4(WT1): c.1231T> G (p.Cys411Gly)single nucleotide variantPathogenicrs121907905GRCh37Chr 11, 32414269: 32414269
10WT1NM_000378.4(WT1): c.1237C> T (p.Arg413Ter)single nucleotide variantPathogenicrs121907906GRCh37Chr 11, 32414263: 32414263
11WT1NM_000378.4(WT1): c.1272C> G (p.His424Gln)single nucleotide variantPathogenicrs121907907GRCh37Chr 11, 32414228: 32414228

Expression for genes affiliated with Denys-Drash Syndrome

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2BioGPS, 16Gene 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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51PathCards, 5Cell Signaling Technology, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PAX2, TGFB1
29.9NPHS1, CD2AP
39.7PDGFA, TGFB1
49.6CD2AP, NPHS1, NPHS2
59.5PDGFA, WT1, TGFB1
6
Show member pathways
MAPK signaling pathway39
9.3TGFB1, MECOM, PDGFA

Compounds for genes affiliated with Denys-Drash Syndrome

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46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank, 30IUPHAR, 52PharmGKB
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Compounds related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1dmrt4610.3WT1, NR5A1
2hydroxysteroid4610.0NR5A1, SRD5A1
3puromycin aminonucleoside469.9NPHS1, NPHS2, CD2AP
4calcitriol46 62 25 1212.6WT1, SRD5A1, TGFB1
5sildenafil30 46 52 25 1213.6TGFB1, SRD5A1
6creatinine469.6TGFB1, NPHS1, NPHS2, WT1
7ribonucleic acid469.5TGFB1, PDGFA, NR5A1, WT1
812-o-tetradecanoylphorbol 13-acetate469.5WT1, PDGFA, TGFB1
9progesterone46 30 62 25 1213.3SRD5A1, PDGFA, NR5A1, WT1
10glutamine469.1WT1, SRD5A1, SAFB, TGFB1
11indomethacin46 30 62 1212.1NPHS1, SRD5A1, TGFB1
12vegf469.0TGFB1, SRD5A1, PDGFA, NPHS1, WT1
13testosterone46 62 25 1212.0SAFB, SRD5A1, NR5A1, WT1
14dexamethasone46 52 30 1212.0NPHS1, PDGFA, SRD5A1, TGFB1
15oligonucleotide468.9TGFB1, SAFB, PDGFA, NR5A1, WT1
16lipid468.8SAFB, NR5A1, NPHS1, NPHS2, CD2AP
17serine468.7TGFB1, PAX2, SAFB, NR5A1, NPHS1, WT1
18tyrosine468.6PAX2, SAFB, PDGFA, NPHS1, NPHS2, WT1
19zinc46 259.6SAFB, MECOM, PDGFA, NR5A1, KLF10, WT1
20vitamin d468.5WT1, NR5A1, PDGFA, SRD5A1, SAFB, TGFB1
21steroid468.4SAFB, SRD5A1, NR5A1, NPHS1, NPHS2, CD2AP
22estrogen468.2TGFB1, SAFB, SRD5A1, PDGFA, NR5A1, KLF10
23retinoic acid46 259.2TGFB1, SAFB, SRD5A1, PDGFA, NR5A1, NPHS1

GO Terms for genes affiliated with Denys-Drash Syndrome

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17Gene Ontology
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Cellular components related to Denys-Drash Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:03605710.0NPHS1, NPHS2
2microvillusGO:0059029.7TGFB1, PDGFA
3protein complexGO:0432349.4NPHS1, NPHS2, PAX2
4nuclear speckGO:0166079.3MECOM, SRSF6, WT1
5nucleusGO:0056346.8TGFB1, PAX2, SAFB, SRSF6, MECOM, KLF10

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1metanephric epithelium developmentGO:07220710.4PAX2, WT1
2negative regulation of female gonad developmentGO:200019510.3NR5A1, WT1
3mesenchymal to epithelial transitionGO:06023110.3WT1, PAX2
4positive regulation of male gonad developmentGO:200002010.3WT1, NR5A1
5metanephric mesenchyme developmentGO:07207510.3WT1, PAX2
6glomerular basement membrane developmentGO:03283610.3WT1, NPHS1
7tissue developmentGO:00988810.2WT1, NR5A1
8adrenal gland developmentGO:03032510.2NR5A1, WT1
9negative regulation of programmed cell deathGO:04306910.2MECOM, PAX2
10positive regulation of branching involved in ureteric bud morphogenesisGO:09019010.1TGFB1, PAX2
11sex determinationGO:00753010.1SRD5A1, WT1
12camera-type eye developmentGO:04301010.1WT1, PAX2
13protein kinase B signalingGO:04349110.0TGFB1, PAX2
14ureteric bud developmentGO:0016579.9TGFB1, WT1
15hormone metabolic processGO:0424459.9NR5A1, SAFB
16excretionGO:0075889.8NPHS2, NPHS1
17positive regulation of MAP kinase activityGO:0434069.7TGFB1, PDGFA
18transforming growth factor beta receptor signaling pathwayGO:0071799.7PDGFA, TGFB1, KLF10
19cell-cell signalingGO:0072679.6KLF10, NR5A1, PDGFA
20negative regulation of transcription, DNA-templatedGO:0458929.6PAX2, MECOM, WT1, TGFB1
21negative regulation of transcription from RNA polymerase II promoterGO:0001229.6PAX2, TGFB1, WT1, KLF10
22positive regulation of transcription, DNA-templatedGO:0458939.5WT1, TGFB1, PAX2, MECOM
23inner ear developmentGO:0488399.4TGFB1, PDGFA
24positive regulation of transcription from RNA polymerase II promoterGO:0459448.8PAX2, TGFB1, NR5A1, MECOM, WT1, SAFB

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

idNameGO IDScoreTop Affiliating Genes
1C2H2 zinc finger domain bindingGO:07074210.0WT1, PAX2
2protein bindingGO:0055155.7WT1, TGFB1, PAX2, SAFB, MECOM, ZNF274

Products for genes affiliated with Denys-Drash Syndrome

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Sources for Denys-Drash Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet