MCID: DNY001
MIFTS: 53

Denys-Drash Syndrome

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

Aliases & Classifications for Denys-Drash Syndrome

MalaCards integrated aliases for Denys-Drash Syndrome:

Name: Denys-Drash Syndrome 57 38 12 76 53 25 59 75 13 55 44 15 40 73
Drash Syndrome 57 53 25 59 29 6
Nephropathy, Wilms Tumor, and Genital Anomalies 57 53 25
Wilms Tumor and Pseudohermaphroditism 53 25 59
Dds 57 25 75
Nephropathy Associated with Male Pseudohermaphroditism and Wilms' Tumor 53
Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor 53
Wilms Tumor and Pseudo- or True Hermaphroditism 57

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

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 somatic mutation autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 194080
Disease Ontology 12 DOID:3764
MeSH 44 D030321
NCIt 50 C84668
SNOMED-CT 68 236385009
Orphanet 59 ORPHA220
MESH via Orphanet 45 D030321
UMLS via Orphanet 74 C0950121
ICD10 via Orphanet 34 N04.1
MedGen 42 C0950121
UMLS 73 C0950121

Summaries for Denys-Drash Syndrome

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.

MalaCards based summary : Denys-Drash Syndrome, also known as drash syndrome, is related to wilms tumor 5 and gonadal dysgenesis. An important gene associated with Denys-Drash Syndrome is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, kidney and testes, and related phenotypes are hypertension and proteinuria

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 Denys-Drash syndrome is a condition that affects the kidneys and genitalia.

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).

Wikipedia : 76 Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal... more...

Description 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 96)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 5 31.5 PAX2 WT1
2 gonadal dysgenesis 30.4 NR5A1 WT1
3 end stage renal failure 29.6 NPHS1 NPHS2 WT1
4 nephrotic syndrome 29.5 CD2AP NPHS1 NPHS2 WT1
5 wilms tumor 1 29.2 NPHS2 NR5A1 PAX2 WT1
6 iga glomerulonephritis 29.0 CD2AP NPHS1 NPHS2
7 frasier syndrome 28.9 CD2AP NPHS1 NPHS2 NR5A1 PDGFA WT1
8 diffuse mesangial sclerosis 28.6 NPHS1 NPHS2 PAX2 PDGFA WT1
9 kidney disease 28.5 CD2AP NPHS1 NPHS2 PAX2 WT1
10 dentin dysplasia, type i 11.8
11 dentin dysplasia, type ii 11.8
12 dentin dysplasia 11.6
13 meacham winn culler syndrome 11.4
14 mohr-tranebjaerg syndrome 11.2
15 darier-white disease 11.1
16 diastrophic dysplasia 11.1
17 dissociative disorder 10.9
18 wilms tumor 6 10.6
19 renal adenoma 10.5 PAX2 WT1
20 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.5 NPHS1 WT1
21 mayer-rokitansky-kuster-hauser syndrome 10.4 PAX2 WT1
22 nephrogenic adenofibroma 10.4 PAX2 WT1
23 ovarian brenner tumor 10.4 PAX2 WT1
24 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.3 NPHS1 NPHS2
25 46,xy partial gonadal dysgenesis 10.3 NR5A1 WT1
26 kidney hypertrophy 10.3 NPHS1 NPHS2
27 crescentic glomerulonephritis 10.3 NPHS2 WT1
28 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 NPHS1 NPHS2
29 sertoli cell tumor 10.3 NR5A1 WT1
30 gonadoblastoma 10.3
31 hemolytic-uremic syndrome 10.3
32 spermatocele 10.2 NR5A1 PAX2
33 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.2 CD2AP NPHS2
34 sex cord-gonadal stromal tumor 10.1 NR5A1 WT1
35 persistent mullerian duct syndrome 10.1 NR5A1 WT1
36 diaphragmatic hernia, congenital 10.1
37 nephrotic syndrome, type 4 10.1
38 lymphoma 10.1
39 pyloric stenosis 10.1
40 mixed gonadal dysgenesis 10.1
41 47, xxy 10.1
42 septate vagina 10.1
43 46 xy gonadal dysgenesis 10.1 NR5A1 WT1
44 arteries, anomalies of 10.1
45 coronary artery anomaly 10.1
46 galloway-mowat syndrome 10.0 NPHS1 NPHS2
47 endotheliitis 10.0
48 pseudohermaphroditism 10.0 NR5A1 WT1
49 microvascular complications of diabetes 3 10.0
50 microvascular complications of diabetes 4 10.0

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



Diseases related to Denys-Drash Syndrome

Symptoms & Phenotypes for Denys-Drash Syndrome

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Denys-Drash Syndrome:

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

MGI Mouse Phenotypes related to Denys-Drash Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 CD2AP FASLG NPHS2 NR5A1 PAX2 PDGFA
2 homeostasis/metabolism MP:0005376 9.8 FASLG NPHS1 NPHS2 NR5A1 PDGFA WT1
3 mortality/aging MP:0010768 9.76 CD2AP FASLG NPHS1 NPHS2 NR5A1 PAX2
4 endocrine/exocrine gland MP:0005379 9.72 CD2AP FASLG NR5A1 PAX2 WT1
5 renal/urinary system MP:0005367 9.5 CD2AP FASLG NPHS1 NPHS2 PAX2 PDGFA
6 reproductive system MP:0005389 9.02 FASLG NR5A1 PAX2 PDGFA WT1

Drugs & Therapeutics for Denys-Drash Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases Completed NCT01252901
2 Rare Disease Patient Registry & Natural History Study - 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
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 86)
# Title Authors Year
1
46-XY Denys-Drash Syndrome. Is There a Role for Nephron-sparing Modalities in Management of Renal Masses? A Report of 2 Cases. ( 29723589 )
2018
2
Testicular Preservation in 46 XY Denys-Drash Syndrome: A Report of Two Cases. ( 29975959 )
2018
3
Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. ( 28720077 )
2017
4
Role for first zinc finger of WT1 in DNA sequence specificity: Denys-Drash syndrome-associated WT1 mutant in ZF1 enhances affinity for a subset of WT1 binding sites. ( 29294058 )
2017
5
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome. ( 28081536 )
2017
6
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G&amp;gt;A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome. ( 26882358 )
2016
7
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications. ( 27596598 )
2016
8
Bilateral Wilms' tumors in an infant with Denys-Drash syndrome and rarely seen truncation mutation in the WT1 gene-exon 6. ( 26628814 )
2015
9
Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome. ( 24625882 )
2014
10
An unusual presentation of denys-drash syndrome due to bigenic disease. ( 24379226 )
2014
11
Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate. ( 25077094 )
2014
12
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. ( 23715653 )
2013
13
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. ( 23729537 )
2013
14
A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome. ( 22876585 )
2012
15
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. ( 21851196 )
2011
16
Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G&amp;gt;A mutation in the WT1 gene. ( 21434831 )
2011
17
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. ( 21552011 )
2011
18
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
19
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. ( 20562648 )
2010
20
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. ( 19797313 )
2010
21
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G &amp;gt; A(Arg366His) mutation. ( 18203154 )
2008
22
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. ( 18197048 )
2008
23
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). ( 18040647 )
2008
24
A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1. ( 17295355 )
2007
25
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. ( 17267748 )
2007
26
Case report: Denys- Drash syndrome. ( 18076855 )
2007
27
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. ( 18163932 )
2007
28
Denys-Drash syndrome (DDS). ( 16823575 )
2006
29
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. ( 16303781 )
2006
30
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. ( 16932893 )
2006
31
Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. ( 15910385 )
2005
32
Denys-Drash syndrome. ( 15758579 )
2005
33
[Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. ( 16003530 )
2005
34
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. ( 15503171 )
2005
35
Clinical course of congenital nephrotic syndrome and Denys-Drash syndrome in Japan. ( 16354210 )
2005
36
Gonadal effects of a mouse Denys-Drash syndrome mutation. ( 16245160 )
2005
37
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. ( 15509792 )
2004
38
Denys-Drash syndrome. ( 15026863 )
2004
39
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. ( 15349765 )
2004
40
The dysregulated glomerular cell growth in Denys-Drash syndrome. ( 15232745 )
2004
41
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. ( 12915483 )
2003
42
A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. ( 11933209 )
2002
43
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. ( 12161615 )
2002
44
Wilms tumor in a pediatric renal transplant recipient with unexpected Denys-Drash syndrome. ( 12493420 )
2002
45
A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. ( 12138137 )
2002
46
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. ( 11519891 )
2001
47
Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. ( 11322369 )
2001
48
Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome. ( 11393579 )
2001
49
Absence of correlation between genotype and the severity of diffuse mesangial sclerosis in Denys-Drash syndrome. ( 10805477 )
2000
50
Hemolytic uremic syndrome associated with Denys-Drash syndrome. ( 11045393 )
2000

Variations for Denys-Drash Syndrome

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

75 (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

ClinVar genetic disease variations for Denys-Drash Syndrome:

6
(show top 50) (show all 364)
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
2 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh38 Chromosome 11, 32392020: 32392020
3 WT1 NM_024426.4(WT1): c.1301G> A (p.Arg434His) single nucleotide variant Pathogenic rs121907901 GRCh37 Chromosome 11, 32414250: 32414250
4 WT1 NM_024426.4(WT1): c.1301G> A (p.Arg434His) single nucleotide variant Pathogenic rs121907901 GRCh38 Chromosome 11, 32392704: 32392704
5 WT1 NM_024426.4(WT1): c.1391A> G (p.Asp464Gly) single nucleotide variant Pathogenic rs121907902 GRCh37 Chromosome 11, 32413559: 32413559
6 WT1 NM_024426.4(WT1): c.1391A> G (p.Asp464Gly) single nucleotide variant Pathogenic rs121907902 GRCh38 Chromosome 11, 32392013: 32392013
7 WT1 NM_024426.4(WT1): c.1390G> A (p.Asp464Asn) single nucleotide variant Pathogenic rs28941778 GRCh37 Chromosome 11, 32413560: 32413560
8 WT1 NM_024426.4(WT1): c.1390G> A (p.Asp464Asn) single nucleotide variant Pathogenic rs28941778 GRCh38 Chromosome 11, 32392014: 32392014
9 WT1 NM_024426.4(WT1): c.1385G> C (p.Arg462Pro) single nucleotide variant Pathogenic rs121907903 GRCh37 Chromosome 11, 32413565: 32413565
10 WT1 NM_024426.4(WT1): c.1385G> C (p.Arg462Pro) single nucleotide variant Pathogenic rs121907903 GRCh38 Chromosome 11, 32392019: 32392019
11 WT1 NM_024426.4(WT1): c.1193G> A (p.Cys398Tyr) single nucleotide variant Pathogenic rs121907904 GRCh37 Chromosome 11, 32417859: 32417859
12 WT1 NM_024426.4(WT1): c.1193G> A (p.Cys398Tyr) single nucleotide variant Pathogenic rs121907904 GRCh38 Chromosome 11, 32396313: 32396313
13 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh38 Chromosome 11, 32391967: 32391967
14 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh37 Chromosome 11, 32413513: 32413513
15 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh37 Chromosome 11, 32413578: 32413578
16 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh38 Chromosome 11, 32392032: 32392032
17 WT1 NM_024426.4(WT1): c.1333C> T (p.His445Tyr) single nucleotide variant Pathogenic rs28942089 GRCh37 Chromosome 11, 32414218: 32414218
18 WT1 NM_024426.4(WT1): c.1333C> T (p.His445Tyr) single nucleotide variant Pathogenic rs28942089 GRCh38 Chromosome 11, 32392672: 32392672
19 WT1 NM_024426.4(WT1): c.1282T> G (p.Cys428Gly) single nucleotide variant Pathogenic rs121907905 GRCh37 Chromosome 11, 32414269: 32414269
20 WT1 NM_024426.4(WT1): c.1282T> G (p.Cys428Gly) single nucleotide variant Pathogenic rs121907905 GRCh38 Chromosome 11, 32392723: 32392723
21 WT1 NM_024426.4(WT1): c.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh37 Chromosome 11, 32414263: 32414263
22 WT1 NM_024426.4(WT1): c.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh38 Chromosome 11, 32392717: 32392717
23 WT1 NM_024426.4(WT1): c.1323C> G (p.His441Gln) single nucleotide variant Pathogenic rs121907907 GRCh37 Chromosome 11, 32414228: 32414228
24 WT1 NM_024426.4(WT1): c.1323C> G (p.His441Gln) single nucleotide variant Pathogenic rs121907907 GRCh38 Chromosome 11, 32392682: 32392682
25 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh37 Chromosome 11, 32456784: 32456784
26 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh38 Chromosome 11, 32435238: 32435238
27 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh37 Chromosome 11, 32456562: 32456562
28 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh38 Chromosome 11, 32435016: 32435016
29 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh37 Chromosome 11, 32417936: 32417936
30 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh38 Chromosome 11, 32396390: 32396390
31 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh37 Chromosome 11, 32417945: 32417945
32 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh38 Chromosome 11, 32396399: 32396399
33 WT1 NM_024426.4(WT1): c.1250-32C> A single nucleotide variant Benign rs2234593 GRCh38 Chromosome 11, 32392787: 32392787
34 WT1 NM_024426.4(WT1): c.1250-32C> A single nucleotide variant Benign rs2234593 GRCh37 Chromosome 11, 32414333: 32414333
35 WT1 NM_024426.4(WT1): c.1250-52G> T single nucleotide variant Benign rs869312745 GRCh38 Chromosome 11, 32392807: 32392807
36 WT1 NM_024426.4(WT1): c.1250-52G> T single nucleotide variant Benign rs869312745 GRCh37 Chromosome 11, 32414353: 32414353
37 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh37 Chromosome 11, 32410704: 32410704
38 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh38 Chromosome 11, 32389158: 32389158
39 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh38 Chromosome 11, 32396416: 32396416
40 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh37 Chromosome 11, 32417962: 32417962
41 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh38 Chromosome 11, 32417597: 32417597
42 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh37 Chromosome 11, 32439143: 32439143
43 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh38 Chromosome 11, 32428054: 32428054
44 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh37 Chromosome 11, 32449600: 32449600
45 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh38 Chromosome 11, 32428625: 32428625
46 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh37 Chromosome 11, 32450171: 32450171
47 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh38 Chromosome 11, 32434694: 32434694
48 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh37 Chromosome 11, 32456240: 32456240
49 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh38 Chromosome 11, 32434818: 32434818
50 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh37 Chromosome 11, 32456364: 32456364

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

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

# Super pathways Score Top Affiliating Genes
1 11.15 PAX2 PDGFA
2 10.89 CD2AP NPHS1 NPHS2 PAX2 WT1
3 10.55 CD2AP NPHS1 NPHS2
4 10.5 CD2AP NPHS1

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 NPHS1 NPHS2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.69 FASLG NR5A1 PDGFA
2 camera-type eye development GO:0043010 9.52 PAX2 WT1
3 branching involved in ureteric bud morphogenesis GO:0001658 9.49 PAX2 WT1
4 excretion GO:0007588 9.48 NPHS1 NPHS2
5 tissue development GO:0009888 9.46 NR5A1 WT1
6 adrenal gland development GO:0030325 9.43 NR5A1 WT1
7 mesenchymal to epithelial transition GO:0060231 9.4 PAX2 WT1
8 glomerular basement membrane development GO:0032836 9.37 NPHS1 WT1
9 positive regulation of male gonad development GO:2000020 9.32 NR5A1 WT1
10 sex determination GO:0007530 9.26 NR5A1 WT1
11 metanephric mesenchyme development GO:0072075 9.16 PAX2 WT1
12 metanephric epithelium development GO:0072207 8.96 PAX2 WT1
13 negative regulation of female gonad development GO:2000195 8.62 NR5A1 WT1

Sources for Denys-Drash Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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