DDS
MCID: DNY001
MIFTS: 54

Denys-Drash Syndrome (DDS)

Categories: 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 58 39 12 77 54 26 60 76 13 56 45 15 41 74
Drash Syndrome 58 54 26 60 30 6
Nephropathy, Wilms Tumor, and Genital Anomalies 58 54 26
Dds 58 26 76
Wilms Tumor and Pseudohermaphroditism 54 26
Nephropathy Associated with Male Pseudohermaphroditism and Wilms' Tumor 54
Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor 54
Wilms Tumor-Disorder of Sex Development Syndrome 60
Wilms Tumor and Pseudo- or True Hermaphroditism 58
Wilms Tumor-Dsd Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
denys-drash syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
denys-drash syndrome:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3764
OMIM 58 194080
MeSH 45 D030321
NCIt 51 C84668
MESH via Orphanet 46 D030321
ICD10 via Orphanet 35 N04.1
UMLS via Orphanet 75 C0950121
Orphanet 60 ORPHA220
MedGen 43 C0950121
UMLS 74 C0950121

Summaries for Denys-Drash Syndrome

NIH Rare Diseases : 54 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 gonadal dysgenesis and frasier syndrome. An important gene associated with Denys-Drash Syndrome is WT1 (WT1 Transcription Factor), 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 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).

Genetics Home Reference : 26 Denys-Drash syndrome is a condition that affects the kidneys and genitalia.

UniProtKB/Swiss-Prot : 76 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 : 77 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 144)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 30.9 NR5A1 WT1
2 frasier syndrome 30.7 CD2AP NPHS1 NPHS2 NR5A1 PDGFA WT1
3 pseudohermaphroditism 30.4 NR5A1 WT1
4 nephrotic syndrome 30.4 CD2AP NPHS1 NPHS2 WT1
5 familial nephrotic syndrome 30.3 CD2AP NPHS1 NPHS2 WT1
6 diffuse mesangial sclerosis 30.0 NPHS1 NPHS2 PAX2 PDGFA WT1
7 wilms tumor 1 29.9 NPHS1 NPHS2 NR5A1 PAX2 WT1
8 end stage renal failure 29.8 NPHS1 NPHS2 WT1
9 kidney disease 29.6 CD2AP NPHS1 NPHS2 PAX2 WT1
10 iga glomerulonephritis 29.5 NPHS1 NPHS2
11 dentin dysplasia, type i 12.0
12 dentin dysplasia, type ii 12.0
13 dentin dysplasia 11.8
14 meacham winn culler syndrome 11.6
15 mohr-tranebjaerg syndrome 11.4
16 darier-white disease 11.3
17 diastrophic dysplasia 11.3
18 dissociative disorder 11.1
19 wilms tumor 5 10.8
20 wilms tumor 6 10.8
21 meacham syndrome 10.5
22 hemolytic-uremic syndrome 10.4
23 lepromatous leprosy 10.4
24 blood group, junior system 10.3
25 burkitt lymphoma 10.2
26 diaphragmatic hernia, congenital 10.2
27 nephrotic syndrome, type 4 10.2
28 gonadoblastoma 10.2
29 cardiac-urogenital syndrome 10.2
30 lymphoma 10.2
31 pyloric stenosis 10.2
32 mixed gonadal dysgenesis 10.2
33 kidney benign neoplasm 10.2 PAX2 WT1
34 arteries, anomalies of 10.2
35 myocardial infarction 10.2
36 microvascular complications of diabetes 3 10.2
37 coronary artery anomaly 10.2
38 prostatic acinar adenocarcinoma 10.2 PAX2 WT1
39 mayer-rokitansky-kuster-hauser syndrome 10.2 PAX2 WT1
40 nephrogenic adenofibroma 10.2 PAX2 WT1
41 ovarian brenner tumor 10.2 PAX2 WT1
42 46,xy partial gonadal dysgenesis 10.1 NR5A1 WT1
43 kidney hypertrophy 10.1 NPHS1 NPHS2
44 hypoparathyroidism, sensorineural deafness, and renal disease 10.1 NPHS1 NPHS2
45 microvascular complications of diabetes 4 10.1
46 microvascular complications of diabetes 6 10.1
47 microvascular complications of diabetes 7 10.1
48 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
49 male reproductive organ benign neoplasm 10.1 NR5A1 WT1
50 crescentic glomerulonephritis 10.1 NPHS2 WT1

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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112
3 nephrotic syndrome 60 33 hallmark (90%) Very frequent (99-80%) HP:0000100
4 male pseudohermaphroditism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000037
5 nephroblastoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002667
6 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
7 gonadal dysgenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000133
8 true hermaphroditism 33 HP:0010459
9 congenital diaphragmatic hernia 33 HP:0000776
10 ambiguous genitalia, male 33 HP:0000033
11 stage 5 chronic kidney disease 33 HP:0003774
12 focal segmental glomerulosclerosis 33 HP:0000097
13 ambiguous genitalia, female 33 HP:0000061
14 ovarian gonadoblastoma 33 HP:0000149
15 gonadal tissue inappropriate for external genitalia or chromosomal sex 33 HP:0003248
16 diffuse mesangial sclerosis 33 HP:0001967

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 CD2AP FASLG NPHS1 NPHS2 NR5A1 PDGFA
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 30 WT1

Anatomical Context for Denys-Drash Syndrome

MalaCards organs/tissues related to Denys-Drash Syndrome:

42
Kidney, Testes, Prostate, Heart, Ovary, Neutrophil
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 124)
# Title Authors Year
1
Testicular Preservation in 46 XY Denys-Drash Syndrome: A Report of Two Cases. ( 29975959 )
2019
2
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. ( 30963316 )
2019
3
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
4
Management of Denys-Drash syndrome: A case series based on an international survey. ( 30450273 )
2018
5
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 )
2018
6
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome. ( 28081536 )
2017
7
Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. ( 28720077 )
2017
8
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
9
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome. ( 26882358 )
2016
10
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications. ( 27596598 )
2016
11
Bilateral Wilms' tumors in an infant with Denys-Drash syndrome and rarely seen truncation mutation in the WT1 gene-exon 6. ( 26628814 )
2015
12
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
13
An unusual presentation of Denys-Drash syndrome due to bigenic disease. ( 24379226 )
2014
14
Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome. ( 24625882 )
2014
15
Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate. ( 25077094 )
2014
16
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. ( 23715653 )
2013
17
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. ( 23729537 )
2013
18
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
19
A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome. ( 22876585 )
2012
20
Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene. ( 21434831 )
2011
21
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. ( 21552011 )
2011
22
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
23
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. ( 21851196 )
2011
24
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. ( 19797313 )
2010
25
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. ( 20562648 )
2010
26
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). ( 18040647 )
2008
27
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. ( 18197048 )
2008
28
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. ( 18203154 )
2008
29
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. ( 17267748 )
2007
30
A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1. ( 17295355 )
2007
31
Case report: Denys- Drash syndrome. ( 18076855 )
2007
32
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. ( 18163932 )
2007
33
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. ( 17853480 )
2007
34
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. ( 16303781 )
2006
35
Denys-Drash syndrome (DDS). ( 16823575 )
2006
36
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. ( 16932893 )
2006
37
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. ( 15503171 )
2005
38
Denys-Drash syndrome. ( 15758579 )
2005
39
Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. ( 15910385 )
2005
40
Gonadal effects of a mouse Denys-Drash syndrome mutation. ( 16245160 )
2005
41
Clinical course of congenital nephrotic syndrome and Denys-Drash syndrome in Japan. ( 16354210 )
2005
42
[Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. ( 16003530 )
2005
43
Denys-Drash syndrome. ( 15026863 )
2004
44
The dysregulated glomerular cell growth in Denys-Drash syndrome. ( 15232745 )
2004
45
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. ( 15349765 )
2004
46
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. ( 15509792 )
2004
47
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. ( 15604628 )
2004
48
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. ( 12915483 )
2003
49
A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. ( 11933209 )
2002
50
A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. ( 12138137 )
2002

Variations for Denys-Drash Syndrome

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

76 (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 438)
# 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_024426.5(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 GRCh37 Chromosome 11, 32421544: 32421544
26 WT1 NM_024426.5(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 GRCh38 Chromosome 11, 32399998: 32399998
27 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 GRCh37 Chromosome 11, 32410710: 32410710
28 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 GRCh38 Chromosome 11, 32389164: 32389164
29 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 NCBI36 Chromosome 11, 32367286: 32367286
30 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 GRCh37 Chromosome 11, 32421568: 32421568
31 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 GRCh38 Chromosome 11, 32400022: 32400022
32 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 NCBI36 Chromosome 11, 32378144: 32378144
33 WT1 NM_024426.4(WT1): c.745C> T (p.Pro249Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234584 GRCh37 Chromosome 11, 32450067: 32450067
34 WT1 NM_024426.4(WT1): c.745C> T (p.Pro249Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234584 GRCh38 Chromosome 11, 32428521: 32428521
35 WT1 NM_024426.4(WT1): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs147241955 GRCh37 Chromosome 11, 32417913: 32417913
36 WT1 NM_024426.4(WT1): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs147241955 GRCh38 Chromosome 11, 32396367: 32396367
37 WT1 NM_024426.5(WT1): c.1304G> A (p.Arg435Gln) single nucleotide variant Uncertain significance rs144788858 GRCh37 Chromosome 11, 32414262: 32414262
38 WT1 NM_024426.5(WT1): c.1304G> A (p.Arg435Gln) single nucleotide variant Uncertain significance rs144788858 GRCh38 Chromosome 11, 32392716: 32392716
39 WT1 NM_024426.5(WT1): c.123G> C (p.Pro41=) single nucleotide variant Benign/Likely benign rs555140661 GRCh37 Chromosome 11, 32456784: 32456784
40 WT1 NM_024426.5(WT1): c.123G> C (p.Pro41=) single nucleotide variant Benign/Likely benign rs555140661 GRCh38 Chromosome 11, 32435238: 32435238
41 WT1 NM_024426.5(WT1): c.345C> T (p.Pro115=) single nucleotide variant Benign rs1799925 GRCh37 Chromosome 11, 32456562: 32456562
42 WT1 NM_024426.5(WT1): c.345C> T (p.Pro115=) single nucleotide variant Benign rs1799925 GRCh38 Chromosome 11, 32435016: 32435016
43 WT1 NM_024426.5(WT1): c.1131T> C (p.Pro377=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh37 Chromosome 11, 32417936: 32417936
44 WT1 NM_024426.5(WT1): c.1131T> C (p.Pro377=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh38 Chromosome 11, 32396390: 32396390
45 WT1 NM_024426.5(WT1): c.1122A> G (p.Arg374=) single nucleotide variant Benign rs16754 GRCh37 Chromosome 11, 32417945: 32417945
46 WT1 NM_024426.5(WT1): c.1122A> G (p.Arg374=) single nucleotide variant Benign rs16754 GRCh38 Chromosome 11, 32396399: 32396399
47 WT1 NM_024426.5(WT1): c.1265-52G> T single nucleotide variant Benign rs869312745 GRCh37 Chromosome 11, 32414353: 32414353
48 WT1 NM_024426.4(WT1): c.1250-32C> A single nucleotide variant Benign rs2234593 GRCh38 Chromosome 11, 32392787: 32392787
49 WT1 NM_024426.4(WT1): c.1250-32C> A single nucleotide variant Benign rs2234593 GRCh37 Chromosome 11, 32414333: 32414333
50 WT1 NM_024426.5(WT1): c.1265-52G> T single nucleotide variant Benign rs869312745 GRCh38 Chromosome 11, 32392807: 32392807

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 12)
# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.51 PAX2 WT1
2 branching involved in ureteric bud morphogenesis GO:0001658 9.49 PAX2 WT1
3 excretion GO:0007588 9.48 NPHS1 NPHS2
4 tissue development GO:0009888 9.46 NR5A1 WT1
5 adrenal gland development GO:0030325 9.43 NR5A1 WT1
6 glomerular basement membrane development GO:0032836 9.4 NPHS1 WT1
7 mesenchymal to epithelial transition GO:0060231 9.37 PAX2 WT1
8 metanephric mesenchyme development GO:0072075 9.32 PAX2 WT1
9 positive regulation of male gonad development GO:2000020 9.26 NR5A1 WT1
10 sex determination GO:0007530 9.16 NR5A1 WT1
11 metanephric epithelium development GO:0072207 8.96 PAX2 WT1
12 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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