DDS
MCID: DNY001
MIFTS: 57

Denys-Drash Syndrome (DDS)

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

Aliases & Classifications for Denys-Drash Syndrome

MalaCards integrated aliases for Denys-Drash Syndrome:

Name: Denys-Drash Syndrome 57 12 75 53 25 59 74 13 55 44 15 40 72
Drash Syndrome 57 53 25 59 29 6
Nephropathy, Wilms Tumor, and Genital Anomalies 57 53 25
Dds 57 25 74
Wilms Tumor and Pseudohermaphroditism 53 25
Nephropathy Associated with Male Pseudohermaphroditism and Wilms' Tumor 53
Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor 53
Wilms Tumor-Disorder of Sex Development Syndrome 59
Wilms Tumor and Pseudo- or True Hermaphroditism 57
Wilms Tumor-Dsd Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
denys-drash syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
most cases are sporadic
death usually due to renal failure by average age 3
phenotypic overlap with wagr syndrome (), frasier syndrome ()


HPO:

32
denys-drash syndrome:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:3764
OMIM 57 194080
MeSH 44 D030321
NCIt 50 C84668
MESH via Orphanet 45 D030321
ICD10 via Orphanet 34 N04.1
UMLS via Orphanet 73 C0950121
Orphanet 59 ORPHA220
MedGen 42 C0950121
UMLS 72 C0950121

Summaries for Denys-Drash Syndrome

Genetics Home Reference : 25 Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys. Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile). Affected females usually have normal genitalia and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.

MalaCards based summary : Denys-Drash Syndrome, also known as drash syndrome, is related to gonadal dysgenesis and pseudohermaphroditism. An important gene associated with Denys-Drash Syndrome is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include Kidney, kidney and testes, and related phenotypes are proteinuria and nephropathy

Disease Ontology : 12 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).

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 74 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 : 75 Denys-Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal... more...

More information from OMIM: 194080

Related Diseases for Denys-Drash Syndrome

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

(show top 50) (show all 298)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 31.3 WT1 NR5A1
2 pseudohermaphroditism 31.2 WT1 NR5A1
3 end stage renal failure 31.0 WT1 NPHS2 NPHS1
4 frasier syndrome 30.5 WT1 PDGFA NR5A1 NPHS2 NPHS1 CD2AP
5 nephrotic syndrome 30.4 WT1 NPHS2 NPHS1 CD2AP
6 familial nephrotic syndrome 30.2 WT1 NPHS2 NPHS1 CD2AP
7 cryptorchidism, unilateral or bilateral 30.0 WT1 NR5A1
8 diffuse mesangial sclerosis 29.9 WT1 PDGFA PAX2 NPHS2 NPHS1
9 nephrotic syndrome, type 1 29.8 WT1 NPHS2 NPHS1 CD2AP
10 kidney disease 29.8 WT1 PAX2 NPHS2 NPHS1 CD2AP
11 iga glomerulonephritis 29.6 NPHS2 NPHS1
12 wilms tumor 1 29.6 WT1 PAX2 NR5A1 NPHS2 NPHS1
13 focal segmental glomerulosclerosis 29.4 WT1 PAX2 NPHS2 NPHS1 CD2AP
14 dentin dysplasia, type i 12.1
15 dentin dysplasia, type ii 12.1
16 dentin dysplasia 11.9
17 meacham winn culler syndrome 11.7
18 diastrophic dysplasia 11.7
19 mohr-tranebjaerg syndrome 11.5
20 darier-white disease 11.4
21 dissociative disorder 11.2
22 wilms tumor 5 11.1
23 leprosy 3 10.7
24 hansen's disease 10.7
25 hypospadias 10.6
26 meacham syndrome 10.5
27 diaphragmatic hernia, congenital 10.5
28 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.5
29 nephrotic syndrome, type 4 10.5
30 gonadoblastoma 10.5
31 lepromatous leprosy 10.4
32 aniridia 1 10.4
33 hemolytic-uremic syndrome 10.4
34 hypogonadism 10.4
35 hypogonadotropism 10.4
36 microvascular complications of diabetes 3 10.3
37 kidney benign neoplasm 10.3 WT1 PAX2
38 prostatic acinar adenocarcinoma 10.3 WT1 PAX2
39 mayer-rokitansky-kuster-hauser syndrome 10.3 WT1 PAX2
40 microvascular complications of diabetes 4 10.3
41 microvascular complications of diabetes 6 10.3
42 microvascular complications of diabetes 7 10.3
43 nephrogenic adenofibroma 10.3 WT1 PAX2
44 ovarian brenner tumor 10.2 WT1 PAX2
45 46,xy partial gonadal dysgenesis 10.2 WT1 NR5A1
46 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
47 burkitt lymphoma 10.2
48 mesothelioma, malignant 10.2
49 hemolytic uremic syndrome, atypical 1 10.2
50 androgen insensitivity syndrome 10.2

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



Diseases related to Denys-Drash Syndrome

Symptoms & Phenotypes for Denys-Drash Syndrome

Human phenotypes related to Denys-Drash Syndrome:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
3 nephrotic syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000100
4 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
5 nephroblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002667
6 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
7 gonadal dysgenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000133
8 congenital diaphragmatic hernia 32 HP:0000776
9 true hermaphroditism 32 HP:0010459
10 ambiguous genitalia, male 32 HP:0000033
11 stage 5 chronic kidney disease 32 HP:0003774
12 focal segmental glomerulosclerosis 32 HP:0000097
13 ambiguous genitalia, female 32 HP:0000061
14 ovarian gonadoblastoma 32 HP:0000149
15 gonadal tissue inappropriate for external genitalia or chromosomal sex 32 HP:0003248
16 diffuse mesangial sclerosis 32 HP:0001967

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Genitourinary Internal Genitalia Male:
gonadoblastoma
gonadal dysgenesis
gonadal tissue inappropriate for external genitalia or chromosomal sex
testicular and ovarian tissue present

Neoplasia:
gonadoblastoma
nephroblastoma (wilms tumor)

Genitourinary External Genitalia Female:
ambiguous genitalia

Genitourinary Kidneys:
nephropathy
nephrotic syndrome
focal segmental glomerulosclerosis
nephroblastoma (wilms tumor)
chronic/endstage renal failure
more
Genitourinary Internal Genitalia Female:
gonadoblastoma
gonadal dysgenesis
gonadal tissue inappropriate for external genitalia or chromosomal sex
testicular and ovarian tissue present

Genitourinary External Genitalia Male:
male pseudohermaphroditism
ambiguous genitalia

Chest Diaphragm:
diaphragmatic hernia (rare)

Clinical features from OMIM:

194080

MGI Mouse Phenotypes related to Denys-Drash Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CD2AP NPHS2 NR5A1 PAX2 PDGFA WT1
2 homeostasis/metabolism MP:0005376 9.8 BAX CD2AP NPHS1 NPHS2 NR5A1 PDGFA
3 mortality/aging MP:0010768 9.76 BAX CD2AP NPHS1 NPHS2 NR5A1 PAX2
4 endocrine/exocrine gland MP:0005379 9.72 BAX CD2AP NR5A1 PAX2 WT1
5 renal/urinary system MP:0005367 9.5 BAX CD2AP NPHS1 NPHS2 PAX2 PDGFA
6 reproductive system MP:0005389 9.02 BAX NR5A1 PAX2 PDGFA WT1

Drugs & Therapeutics for Denys-Drash Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry for Patients With WT1 Mutation Associated Diseases Completed NCT01252901
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Denys-Drash Syndrome

Cochrane evidence based reviews: denys-drash syndrome

Genetic Tests for Denys-Drash Syndrome

Genetic tests related to Denys-Drash Syndrome:

# Genetic test Affiliating Genes
1 Drash Syndrome 29 WT1

Anatomical Context for Denys-Drash Syndrome

MalaCards organs/tissues related to Denys-Drash Syndrome:

41
Kidney, Testes, Testis, Pituitary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Denys-Drash Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Metanephric Mesenchyme Metanephric Mesenchyme Cells Affected by disease

Publications for Denys-Drash Syndrome

Articles related to Denys-Drash Syndrome:

(show top 50) (show all 284)
# Title Authors PMID Year
1
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 9 38 8 71
1338906 1992
2
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 9 38 8 71
1655284 1991
3
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. 38 8 71
18203154 2008
4
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 38 8 71
9607189 1998
5
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. 9 38 8
10077614 1999
6
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 9 38 71
9529364 1998
7
A clinical overview of WT1 gene mutations. 9 38 71
9090524 1997
8
Inherited WT1 mutation in Denys-Drash syndrome. 9 38 71
1327525 1992
9
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. 38 8
19797313 2010
10
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 38 71
17853480 2007
11
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. 38 8
12915483 2003
12
Diaphragmatic hernia in Denys-Drash syndrome. 38 8
7645607 1995
13
The Denys-Drash syndrome. 38 8
8071974 1994
14
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. 38 8
1338905 1992
15
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 38 71
1302008 1992
16
Molecular analysis of chromosome region 11p13 in patients with Drash syndrome. 38 8
1849870 1991
17
Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). 38 8
2172500 1990
18
Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome. 38 8
3026952 1987
19
The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases. 38 8
3000666 1985
20
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 38 71
6307071 1983
21
Familial Wilms' tumor associated with a WT1 zinc finger mutation. 71
8975729 1996
22
Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor. 8
3039839 1987
23
Pseudohermaphroditism, nephron disorder and wilms' tumor: a unifying concept. 8
4153449 1974
24
A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. 8
4316066 1970
25
[Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism]. 8
4292870 1967
26
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 9 38
20497763 2010
27
WT1 gene mutations in three girls with nephrotic syndrome. 9 38
17541636 2008
28
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. 9 38
18197048 2008
29
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. 9 38
18163932 2007
30
Complete sex reversal in a WAGR syndrome patient. 9 38
17935232 2007
31
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. 9 38
17533022 2007
32
VEGF transcription and mRNA stability are altered by WT1 not DDS(R384W) expression in LNCaP cells. 9 38
17487399 2007
33
[Congenital urogenital malformations associated with nephroblastomas. Long-term results of a study in Erlangen]. 9 38
17285219 2007
34
WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis. 9 38
17061122 2007
35
A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1. 9 38
17295355 2007
36
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 9 38
16932893 2006
37
WT1 and glomerular diseases. 9 38
16927106 2006
38
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. 9 38
16303781 2006
39
[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. 9 38
16440249 2006
40
[Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. 9 38
16003530 2005
41
WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities. 9 38
15838390 2005
42
Denys-Drash syndrome. 9 38
15758579 2005
43
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. 9 38
15503171 2005
44
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. 9 38
15349765 2004
45
Slow progressive FSGS associated with an F392L WT1 mutation. 9 38
14745636 2004
46
Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. 9 38
14671061 2004
47
Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. 9 38
12970737 2003
48
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. 9 38
15357247 2003
49
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. 9 38
12161615 2002
50
Functional characterization of WT1 binding sites within the human vitamin D receptor gene promoter. 9 38
11773605 2001

Variations for Denys-Drash Syndrome

ClinVar genetic disease variations for Denys-Drash Syndrome:

6 (show top 50) (show all 265)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1): c.812del (p.Pro271fs) deletion Pathogenic rs1060501253 11:32449577-32449577 11:32428031-32428031
2 WT1 NM_024426.6(WT1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs1423753702 11:32417947-32417947 11:32396401-32396401
3 WT1 NC_000011.9: g.(?_32417797)_(32439206_?)del deletion Pathogenic 11:32417797-32439206 11:32396251-32417660
4 WT1 NM_024426.6(WT1): c.334del (p.Asp112fs) deletion Pathogenic rs1554946600 11:32456573-32456573 11:32435027-32435027
5 WT1 NM_024426.6(WT1): c.682dup (p.Asp228fs) duplication Pathogenic rs1554945232 11:32450145-32450145 11:32428599-32428599
6 WT1 NC_000011.9: g.(?_32410604)_(32456891_?)del deletion Pathogenic 11:32410604-32456891 11:32389058-32435345
7 WT1 NM_024426.6(WT1): c.1149del (p.Val384fs) deletion Pathogenic rs1554939839 11:32417918-32417918 11:32396372-32396372
8 WT1 NM_024426.6(WT1): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs1554946500 11:32456429-32456429 11:32434883-32434883
9 WT1 NM_024426.6(WT1): c.1399C> T (p.Arg467Trp) single nucleotide variant Pathogenic rs121907900 11:32413566-32413566 11:32392020-32392020
10 WT1 NM_024426.6(WT1): c.1316G> A (p.Arg439His) single nucleotide variant Pathogenic rs121907901 11:32414250-32414250 11:32392704-32392704
11 WT1 NM_024426.6(WT1): c.1406A> G (p.Asp469Gly) single nucleotide variant Pathogenic rs121907902 11:32413559-32413559 11:32392013-32392013
12 WT1 NM_024426.6(WT1): c.1405G> A (p.Asp469Asn) single nucleotide variant Pathogenic rs28941778 11:32413560-32413560 11:32392014-32392014
13 WT1 NM_024426.6(WT1): c.1400G> C (p.Arg467Pro) single nucleotide variant Pathogenic rs121907903 11:32413565-32413565 11:32392019-32392019
14 WT1 NM_024426.6(WT1): c.1208G> A (p.Cys403Tyr) single nucleotide variant Pathogenic rs121907904 11:32417859-32417859 11:32396313-32396313
15 WT1 NM_024426.6(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 11:32413513-32413513 11:32391967-32391967
16 WT1 NM_024426.6(WT1): c.1387C> T (p.Arg463Ter) single nucleotide variant Pathogenic rs121907909 11:32413578-32413578 11:32392032-32392032
17 WT1 NM_024426.6(WT1): c.1348C> T (p.His450Tyr) single nucleotide variant Pathogenic rs28942089 11:32414218-32414218 11:32392672-32392672
18 WT1 NM_024426.6(WT1): c.1297T> G (p.Cys433Gly) single nucleotide variant Pathogenic rs121907905 11:32414269-32414269 11:32392723-32392723
19 WT1 NM_024426.6(WT1): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs121907906 11:32414263-32414263 11:32392717-32392717
20 WT1 NM_024426.6(WT1): c.1338C> G (p.His446Gln) single nucleotide variant Pathogenic rs121907907 11:32414228-32414228 11:32392682-32392682
21 WT1 NM_024426.6(WT1): c.653del (p.Arg218fs) deletion Pathogenic 11:32456254-32456254 11:32434708-32434708
22 WT1 NM_024426.6(WT1): c.882C> A (p.Tyr294Ter) single nucleotide variant Pathogenic 11:32449507-32449507 11:32427961-32427961
23 WT1 NC_000011.9: g.(?_32410594)_(32456901_?)del deletion Pathogenic 11:32410594-32456901 11:32389048-32435355
24 WT1 NM_024426.6(WT1): c.965+1G> A single nucleotide variant Likely pathogenic 11:32439122-32439122 11:32417576-32417576
25 WT1 NM_024426.6(WT1): c.1421A> C (p.His474Pro) single nucleotide variant Likely pathogenic 11:32413544-32413544 11:32391998-32391998
26 WT1 NM_024426.6(WT1): c.1405G> T (p.Asp469Tyr) single nucleotide variant Likely pathogenic rs28941778 11:32413560-32413560 11:32392014-32392014
27 WT1 NM_024426.6(WT1): c.662-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 11:32450171-32450171 11:32428625-32428625
28 WT1 NM_024426.6(WT1): c.375C> T (p.Gly125=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 11:32456532-32456532 11:32434986-32434986
29 WT1 NM_024426.6(WT1): c.381C> G (p.Pro127=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 11:32456526-32456526 11:32434980-32434980
30 WT1 NM_024426.6(WT1): c.151del (p.Ala51fs) deletion Conflicting interpretations of pathogenicity rs776155094 11:32456756-32456756 11:32435210-32435210
31 WT1 NM_024426.6(WT1): c.1059C> T (p.Ile353=) single nucleotide variant Conflicting interpretations of pathogenicity rs527655625 11:32421548-32421548 11:32400002-32400002
32 WT1 NM_024426.6(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 11:32421544-32421544 11:32399998-32399998
33 WT1 NM_024426.6(WT1): c.760C> T (p.Pro254Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234584 11:32450067-32450067 11:32428521-32428521
34 WT1 NM_024426.6(WT1): c.1131T> C (p.Pro377=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 11:32417936-32417936 11:32396390-32396390
35 WT1 NM_024426.6(WT1): c.1092C> A (p.His364Gln) single nucleotide variant Uncertain significance rs587778756 11:32421515-32421515 11:32399969-32399969
36 WT1 NM_024426.6(WT1): c.1154G> A (p.Arg385Gln) single nucleotide variant Uncertain significance rs147241955 11:32417913-32417913 11:32396367-32396367
37 WT1 NM_024426.6(WT1): c.1304G> A (p.Arg435Gln) single nucleotide variant Uncertain significance rs144788858 11:32414262-32414262 11:32392716-32392716
38 WT1 NM_024426.6(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 11:32410710-32410710 11:32389164-32389164
39 WT1 NM_024426.6(WT1): c.1039G> A (p.Asp347Asn) single nucleotide variant Uncertain significance rs267602851 11:32421568-32421568 11:32400022-32400022
40 WT1 NM_024426.6(WT1): c.355T> C (p.Ser119Pro) single nucleotide variant Uncertain significance rs1187111469 11:32456552-32456552 11:32435006-32435006
41 WT1 NM_024426.6(WT1): c.307G> T (p.Gly103Cys) single nucleotide variant Uncertain significance rs1348287926 11:32456600-32456600 11:32435054-32435054
42 WT1 NM_024426.6(WT1): c.203G> A (p.Gly68Glu) single nucleotide variant Uncertain significance rs1170323988 11:32456704-32456704 11:32435158-32435158
43 WT1 NM_024426.6(WT1): c.379C> A (p.Pro127Thr) single nucleotide variant Uncertain significance rs1554946578 11:32456528-32456528 11:32434982-32434982
44 WT1 NM_024426.6(WT1): c.121C> T (p.Pro41Ser) single nucleotide variant Uncertain significance rs926668379 11:32456786-32456786 11:32435240-32435240
45 WT1 NM_024426.6(WT1): c.124G> A (p.Gly42Ser) single nucleotide variant Uncertain significance rs762288656 11:32456783-32456783 11:32435237-32435237
46 WT1 NM_024426.6(WT1): c.86G> A (p.Cys29Tyr) single nucleotide variant Uncertain significance rs992227366 11:32456821-32456821 11:32435275-32435275
47 WT1 NM_024426.6(WT1): c.77G> A (p.Gly26Glu) single nucleotide variant Uncertain significance rs1484558172 11:32456830-32456830 11:32435284-32435284
48 WT1 NM_024426.6(WT1): c.1113+5G> A single nucleotide variant Uncertain significance rs930795675 11:32421489-32421489 11:32399943-32399943
49 WT1 NM_024426.6(WT1): c.1073A> G (p.Gln358Arg) single nucleotide variant Uncertain significance rs1554940518 11:32421534-32421534 11:32399988-32399988
50 WT1 NM_024426.6(WT1): c.779C> T (p.Ser260Leu) single nucleotide variant Uncertain significance rs1444869026 11:32450048-32450048 11:32428502-32428502

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

74 (show all 24)
# Symbol AA change Variation ID SNP ID
1 WT1 p.Cys330Tyr VAR_007743
2 WT1 p.Cys360Gly VAR_007744
3 WT1 p.Arg366Cys VAR_007745
4 WT1 p.Arg366His VAR_007746
5 WT1 p.His373Gln VAR_007747
6 WT1 p.Arg394Trp VAR_007750
7 WT1 p.Asp396Asn VAR_007751
8 WT1 p.Asp396Gly VAR_007752
9 WT1 p.Met342Arg VAR_015054
10 WT1 p.Cys355Tyr VAR_015055
11 WT1 p.His373Tyr VAR_015056
12 WT1 p.His377Arg VAR_015057
13 WT1 p.Cys385Arg VAR_015058
14 WT1 p.Cys388Phe VAR_015059
15 WT1 p.Arg394Gln VAR_015061
16 WT1 p.Leu398Pro VAR_015062
17 WT1 p.Cys360Tyr VAR_043800
18 WT1 p.Arg366Leu VAR_043802
19 WT1 p.Gln369Pro VAR_043803
20 WT1 p.Cys388Tyr VAR_043806
21 WT1 p.Arg394Pro VAR_043808
22 WT1 p.Asp396Tyr VAR_043809
23 WT1 p.His401Tyr VAR_043811
24 WT1 p.His405Arg VAR_043812

Copy number variations for Denys-Drash Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 53562 11 31000000 36400000 Copy number WT1 Denys-drash syndrome
2 53587 11 31000000 36400000 Copy number WT1 Denys-drash syndrome

Expression for Denys-Drash Syndrome

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

Pathways for Denys-Drash Syndrome

GO Terms for Denys-Drash Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 slit diaphragm GO:0036057 8.62 NPHS2 NPHS1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.61 WT1 NR5A1 BAX
2 response to wounding GO:0009611 9.55 PDGFA BAX
3 camera-type eye development GO:0043010 9.54 WT1 PAX2
4 branching involved in ureteric bud morphogenesis GO:0001658 9.52 WT1 PAX2
5 germ cell development GO:0007281 9.51 WT1 BAX
6 excretion GO:0007588 9.49 NPHS2 NPHS1
7 tissue development GO:0009888 9.48 WT1 NR5A1
8 adrenal gland development GO:0030325 9.46 WT1 NR5A1
9 mesenchymal to epithelial transition GO:0060231 9.4 WT1 PAX2
10 glomerular basement membrane development GO:0032836 9.37 WT1 NPHS1
11 sex determination GO:0007530 9.32 WT1 NR5A1
12 positive regulation of male gonad development GO:2000020 9.26 WT1 NR5A1
13 metanephric mesenchyme development GO:0072075 9.16 WT1 PAX2
14 metanephric epithelium development GO:0072207 8.96 WT1 PAX2
15 negative regulation of female gonad development GO:2000195 8.62 WT1 NR5A1

Sources for Denys-Drash Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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