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 56 12 74 52 25 58 73 13 54 43 15 39 71
Drash Syndrome 56 52 25 58 29 6
Nephropathy, Wilms Tumor, and Genital Anomalies 56 52 25
Dds 56 25 73
Wilms Tumor and Pseudohermaphroditism 52 25
Nephropathy Associated with Male Pseudohermaphroditism and Wilms' Tumor 52
Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor 52
Wilms Tumor-Disorder of Sex Development Syndrome 58
Wilms Tumor and Pseudo- or True Hermaphroditism 56
Wilms Tumor-Dsd Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
denys-drash syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
denys-drash syndrome:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare renal diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:3764
OMIM 56 194080
MeSH 43 D030321
NCIt 49 C84668
MESH via Orphanet 44 D030321
ICD10 via Orphanet 33 N04.1
UMLS via Orphanet 72 C0950121
Orphanet 58 ORPHA220
MedGen 41 C0950121
UMLS 71 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 frasier syndrome and wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. An important gene associated with Denys-Drash Syndrome is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin interactions. Affiliated tissues include Kidney, testes and heart, and related phenotypes are proteinuria and nephropathy

Disease Ontology : 12 A syndrome 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 : 52 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 : 73 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 : 74 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 307)
# Related Disease Score Top Affiliating Genes
1 frasier syndrome 31.1 WT1 TRPC6 PLCE1 NR5A1 NPHS2 NPHS1
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 31.0 WT1 NR5A1 NPHS1
3 end stage renal failure 31.0 WT1 PLCE1 NPHS2 NPHS1
4 diffuse mesangial sclerosis 30.9 WT1 PLCE1 PDGFA PAX2 NPHS2 NPHS1
5 glomerular disease 30.7 NPHS2 NPHS1 CD2AP
6 nephrotic syndrome, type 1 30.4 WT1 NPHS2 NPHS1 CD2AP ACTN4
7 nephrotic syndrome, type 2 30.2 PLCE1 NPHS2 NPHS1 ACTN4
8 iga glomerulonephritis 29.9 SYNPO NPHS2 NPHS1
9 kidney disease 29.6 WT1 TRPC6 PAX2 NPHS2 NPHS1 LMX1B
10 wilms tumor 1 29.6 WT1 SYNPO PDGFA PAX2 NR5A1 NPHS2
11 nephrotic syndrome 29.4 WT1 TRPC6 SYNPO PLCE1 NPHS2 NPHS1
12 genetic steroid-resistant nephrotic syndrome 29.2 WT1 TRPC6 PLCE1 PAX2 NPHS2 NPHS1
13 familial nephrotic syndrome 28.7 WT1 TRPC6 SYNPO PLCE1 NPHS2 NPHS1
14 focal segmental glomerulosclerosis 27.2 WT1 TRPC6 SYNPO PLCE1 PAX2 NPHS2
15 dentin dysplasia, type i 12.2
16 dentin dysplasia, type ii 12.1
17 dentin dysplasia 11.9
18 meacham winn culler syndrome 11.7
19 diastrophic dysplasia 11.7
20 mohr-tranebjaerg syndrome 11.5
21 darier-white disease 11.4
22 hereditary dentin defect 11.3
23 dissociative disorder 11.2
24 wilms tumor 5 11.1
25 pseudohermaphroditism 10.9
26 leprosy 3 10.7
27 hansen's disease 10.7
28 gonadal dysgenesis 10.6
29 hypospadias 10.6
30 gonadoblastoma 10.5
31 meacham syndrome 10.5
32 diaphragmatic hernia, congenital 10.5
33 cryptorchidism, unilateral or bilateral 10.5
34 nephrotic syndrome, type 4 10.5
35 genetic nephrotic syndrome 10.4 WT1 NPHS2
36 lepromatous leprosy 10.4
37 epididymal neoplasm 10.4 WT1 PAX2
38 aniridia 1 10.4
39 hemolytic-uremic syndrome 10.4
40 hypogonadism 10.4
41 hypogonadotropism 10.4
42 renal adenoma 10.4 WT1 PAX2
43 microvascular complications of diabetes 3 10.3
44 epididymis adenocarcinoma 10.3 WT1 PAX2
45 iga nephropathy 1 10.3 NPHS2 NPHS1
46 microcystic stromal tumor 10.3 WT1 NR5A1
47 epididymis cancer 10.3 WT1 PAX2
48 46,xy partial gonadal dysgenesis 10.3 WT1 NR5A1
49 microvascular complications of diabetes 4 10.3
50 microvascular complications of diabetes 6 10.3

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
3 nephrotic syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000100
4 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
5 nephroblastoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002667
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 gonadal dysgenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000133
8 congenital diaphragmatic hernia 31 HP:0000776
9 true hermaphroditism 31 HP:0010459
10 ambiguous genitalia, male 31 HP:0000033
11 stage 5 chronic kidney disease 31 HP:0003774
12 focal segmental glomerulosclerosis 31 HP:0000097
13 ambiguous genitalia, female 31 HP:0000061
14 ovarian gonadoblastoma 31 HP:0000149
15 gonadal tissue inappropriate for external genitalia or chromosomal sex 31 HP:0003248
16 diffuse mesangial sclerosis 31 HP:0001967

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 ACTN4 CD2AP FASLG LMX1B NPHS2 NR5A1
2 homeostasis/metabolism MP:0005376 10.1 ACTN4 BAX CD2AP FASLG LMX1B NPHS1
3 mortality/aging MP:0010768 10.03 ACTN4 BAX CD2AP FASLG LMX1B NPHS1
4 muscle MP:0005369 9.7 ACTN4 BAX LMX1B PDGFA PLCE1 TRPC6
5 nervous system MP:0003631 9.65 ACTN4 BAX FASLG LMX1B NPHS1 NR5A1
6 renal/urinary system MP:0005367 9.36 ACTN4 BAX CD2AP FASLG LMX1B NPHS1

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:

40
Kidney, Testes, Heart, Thyroid, Brain, Ovary, T Cells
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 287)
# Title Authors PMID Year
1
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 54 61 56 6
1338906 1992
2
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 54 61 56 6
1655284 1991
3
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. 61 56 6
18203154 2008
4
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 61 56 6
9607189 1998
5
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. 54 61 56
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. 54 61 6
9529364 1998
7
A clinical overview of WT1 gene mutations. 54 61 6
9090524 1997
8
Inherited WT1 mutation in Denys-Drash syndrome. 54 61 6
1327525 1992
9
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. 61 56
19797313 2010
10
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 61 6
17853480 2007
11
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. 61 56
12915483 2003
12
Diaphragmatic hernia in Denys-Drash syndrome. 61 56
7645607 1995
13
The Denys-Drash syndrome. 61 56
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. 61 56
1338905 1992
15
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 61 6
1302008 1992
16
Molecular analysis of chromosome region 11p13 in patients with Drash syndrome. 61 56
1849870 1991
17
Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). 61 56
2172500 1990
18
Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome. 61 56
3026952 1987
19
The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases. 61 56
3000666 1985
20
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 61 6
6307071 1983
21
Familial Wilms' tumor associated with a WT1 zinc finger mutation. 6
8975729 1996
22
Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor. 56
3039839 1987
23
Pseudohermaphroditism, nephron disorder and wilms' tumor: a unifying concept. 56
4153449 1974
24
A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. 56
4316066 1970
25
[Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism]. 56
4292870 1967
26
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 54 61
20497763 2010
27
WT1 gene mutations in three girls with nephrotic syndrome. 54 61
17541636 2008
28
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. 54 61
18197048 2008
29
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. 54 61
18163932 2007
30
Complete sex reversal in a WAGR syndrome patient. 54 61
17935232 2007
31
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. 54 61
17533022 2007
32
VEGF transcription and mRNA stability are altered by WT1 not DDS(R384W) expression in LNCaP cells. 54 61
17487399 2007
33
[Congenital urogenital malformations associated with nephroblastomas. Long-term results of a study in Erlangen]. 54 61
17285219 2007
34
WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis. 54 61
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. 54 61
17295355 2007
36
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 54 61
16932893 2006
37
WT1 and glomerular diseases. 54 61
16927106 2006
38
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. 54 61
16303781 2006
39
[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. 54 61
16440249 2006
40
[Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. 54 61
16003530 2005
41
WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities. 54 61
15838390 2005
42
Denys-Drash syndrome. 54 61
15758579 2005
43
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. 54 61
15503171 2005
44
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. 54 61
15349765 2004
45
Slow progressive FSGS associated with an F392L WT1 mutation. 54 61
14745636 2004
46
Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. 54 61
14671061 2004
47
Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. 54 61
12970737 2003
48
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. 54 61
15357247 2003
49
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. 54 61
12161615 2002
50
Functional characterization of WT1 binding sites within the human vitamin D receptor gene promoter. 54 61
11773605 2001

Variations for Denys-Drash Syndrome

ClinVar genetic disease variations for Denys-Drash Syndrome:

6 (show top 50) (show all 226) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)SNV Pathogenic 3487 rs121907900 11:32413566-32413566 11:32392020-32392020
2 WT1 NM_024426.6(WT1):c.1316G>A (p.Arg439His)SNV Pathogenic 3488 rs121907901 11:32414250-32414250 11:32392704-32392704
3 WT1 NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)SNV Pathogenic 3489 rs121907902 11:32413559-32413559 11:32392013-32392013
4 WT1 NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)SNV Pathogenic 3490 rs28941778 11:32413560-32413560 11:32392014-32392014
5 WT1 NM_024426.6(WT1):c.1400G>C (p.Arg467Pro)SNV Pathogenic 3491 rs121907903 11:32413565-32413565 11:32392019-32392019
6 WT1 NM_024426.6(WT1):c.1208G>A (p.Cys403Tyr)SNV Pathogenic 3492 rs121907904 11:32417859-32417859 11:32396313-32396313
7 WT1 NM_024426.6(WT1):c.1447+5G>ASNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
8 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)SNV Pathogenic 3494 rs121907909 11:32413578-32413578 11:32392032-32392032
9 WT1 NM_024426.6(WT1):c.1348C>T (p.His450Tyr)SNV Pathogenic 3495 rs28942089 11:32414218-32414218 11:32392672-32392672
10 WT1 NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)SNV Pathogenic 3496 rs121907905 11:32414269-32414269 11:32392723-32392723
11 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
12 WT1 NM_024426.6(WT1):c.1338C>G (p.His446Gln)SNV Pathogenic 3498 rs121907907 11:32414228-32414228 11:32392682-32392682
13 WT1 NM_024426.6(WT1):c.812del (p.Pro271fs)deletion Pathogenic 406680 rs1060501253 11:32449577-32449577 11:32428031-32428031
14 WT1 NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)SNV Pathogenic 449416 rs1423753702 11:32417947-32417947 11:32396401-32396401
15 WT1 NC_000011.9:g.(?_32417797)_(32439206_?)deldeletion Pathogenic 476672 11:32417797-32439206 11:32396251-32417660
16 WT1 NM_024426.6(WT1):c.334del (p.Asp112fs)deletion Pathogenic 476700 rs1554946600 11:32456573-32456573 11:32435027-32435027
17 WT1 NM_024426.6(WT1):c.682dup (p.Asp228fs)duplication Pathogenic 476713 rs1554945232 11:32450144-32450145 11:32428598-32428599
18 WT1 NC_000011.9:g.(?_32410604)_(32456891_?)deldeletion Pathogenic 543163 11:32410604-32456891 11:32389058-32435345
19 WT1 NM_024426.6(WT1):c.478C>T (p.Gln160Ter)SNV Pathogenic 543125 rs1554946500 11:32456429-32456429 11:32434883-32434883
20 WT1 NM_024426.6(WT1):c.1149del (p.Val384fs)deletion Pathogenic 543120 rs1554939839 11:32417918-32417918 11:32396372-32396372
21 WT1 NM_024426.6(WT1):c.653del (p.Arg218fs)deletion Pathogenic 571628 rs1565000973 11:32456254-32456254 11:32434708-32434708
22 WT1 NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)SNV Pathogenic 645008 11:32449507-32449507 11:32427961-32427961
23 WT1 NC_000011.9:g.(?_32410594)_(32456901_?)deldeletion Pathogenic 665054 11:32410594-32456901 11:32389048-32435355
24 WT1 NM_024426.6(WT1):c.472G>T (p.Glu158Ter)SNV Pathogenic 584762 rs1565001383 11:32456435-32456435 11:32434889-32434889
25 WT1 NM_024426.6(WT1):c.1354+4_1354+11deldeletion Likely pathogenic 802667 11:32414201-32414208 11:32392655-32392662
26 WT1 NM_024426.6(WT1):c.965+1G>ASNV Likely pathogenic 661942 11:32439122-32439122 11:32417576-32417576
27 WT1 NM_024426.6(WT1):c.523G>T (p.Gly175Cys)SNV Likely pathogenic 807722 11:32456384-32456384 11:32434838-32434838
28 WT1 NM_024426.6(WT1):c.1421A>C (p.His474Pro)SNV Likely pathogenic 623223 rs1564969626 11:32413544-32413544 11:32391998-32391998
29 WT1 NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)SNV Likely pathogenic 547167 rs28941778 11:32413560-32413560 11:32392014-32392014
30 WT1 NM_024426.6(WT1):c.124G>A (p.Gly42Ser)SNV Conflicting interpretations of pathogenicity 543129 rs762288656 11:32456783-32456783 11:32435237-32435237
31 WT1 NM_024426.6(WT1):c.-106C>TSNV Conflicting interpretations of pathogenicity 304438 rs867975105 11:32457012-32457012 11:32435466-32435466
32 WT1 NM_024426.6(WT1):c.662-6C>ASNV Conflicting interpretations of pathogenicity 241486 rs372418954 11:32450171-32450171 11:32428625-32428625
33 WT1 NM_024426.6(WT1):c.151del (p.Ala51fs)deletion Conflicting interpretations of pathogenicity 265295 rs776155094 11:32456756-32456756 11:32435210-32435210
34 WT1 NM_024426.6(WT1):c.887+4G>ASNV Uncertain significance 304421 rs778673400 11:32449498-32449498 11:32427952-32427952
35 WT1 NM_024426.6(WT1):c.162C>G (p.Ser54Arg)SNV Uncertain significance 304429 rs776954184 11:32456745-32456745 11:32435199-32435199
36 WT1 NM_024426.6(WT1):c.1198T>C (p.Tyr400His)SNV Uncertain significance 304419 rs746353651 11:32417869-32417869 11:32396323-32396323
37 WT1 NM_024426.6(WT1):c.661+6T>CSNV Uncertain significance 241485 rs557166021 11:32456240-32456240 11:32434694-32434694
38 WT1 NM_024426.6(WT1):c.416C>G (p.Pro139Arg)SNV Uncertain significance 241482 rs878855085 11:32456491-32456491 11:32434945-32434945
39 WT1 NM_024426.6(WT1):c.193G>A (p.Gly65Arg)SNV Uncertain significance 241478 rs374404615 11:32456714-32456714 11:32435168-32435168
40 WT1 NM_024426.6(WT1):c.83G>A (p.Gly28Glu)SNV Uncertain significance 241487 rs751641518 11:32456824-32456824 11:32435278-32435278
41 WT1 NM_024426.6(WT1):c.70C>T (p.Arg24Cys)SNV Uncertain significance 241484 rs878855086 11:32456837-32456837 11:32435291-32435291
42 WT1 NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)SNV Uncertain significance 78335 rs267602849 11:32410710-32410710 11:32389164-32389164
43 WT1 NM_024426.6(WT1):c.1039G>A (p.Asp347Asn)SNV Uncertain significance 78337 rs267602851 11:32421568-32421568 11:32400022-32400022
44 WT1 NM_024426.6(WT1):c.1092C>A (p.His364Gln)SNV Uncertain significance 135454 rs587778756 11:32421515-32421515 11:32399969-32399969
45 WT1 NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)SNV Uncertain significance 135455 rs147241955 11:32417913-32417913 11:32396367-32396367
46 WT1 NM_024426.6(WT1):c.1304G>A (p.Arg435Gln)SNV Uncertain significance 135456 rs144788858 11:32414262-32414262 11:32392716-32392716
47 WT1 NM_024426.6(WT1):c.1469G>A (p.Arg490Gln)SNV Uncertain significance 241477 rs139893274 11:32410704-32410704 11:32389158-32389158
48 WT1 NM_024426.6(WT1):c.587G>A (p.Gly196Asp)SNV Uncertain significance 304423 rs753112302 11:32456320-32456320 11:32434774-32434774
49 WT1 NM_024426.6(WT1):c.977G>C (p.Gly326Ala)SNV Uncertain significance 403610 rs766054482 11:32438075-32438075 11:32416529-32416529
50 WT1 NM_024426.6(WT1):c.584C>G (p.Ser195Cys)SNV Uncertain significance 406700 rs778194188 11:32456323-32456323 11:32434777-32434777

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

73 (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 Chromosome 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 11.19 WT1 TRPC6 SYNPO PLCE1 PAX2 NPHS2
2 10.67 NPHS1 CD2AP ACTN4
3 10.67 TRPC6 NPHS2 NPHS1 CD2AP

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 cell GO:0005623 9.5 TRPC6 TMSB15A PLCE1 PAX2 FASLG BAX
2 slit diaphragm GO:0036057 8.8 TRPC6 NPHS2 NPHS1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.69 WT1 NR5A1 BAX
2 adrenal gland development GO:0030325 9.52 WT1 NR5A1
3 hormone metabolic process GO:0042445 9.49 SAFB NR5A1
4 regulation of mRNA processing GO:0050684 9.48 SRPK1 SAFB
5 mesenchymal to epithelial transition GO:0060231 9.46 WT1 PAX2
6 glomerular basement membrane development GO:0032836 9.43 WT1 NPHS1
7 glomerulus development GO:0032835 9.4 WT1 PLCE1
8 positive regulation of male gonad development GO:2000020 9.37 WT1 NR5A1
9 metanephric mesenchyme development GO:0072075 9.32 WT1 PAX2
10 sex determination GO:0007530 9.26 WT1 NR5A1
11 metanephric epithelium development GO:0072207 9.16 WT1 PAX2
12 negative regulation of female gonad development GO:2000195 8.96 WT1 NR5A1
13 retinal cell programmed cell death GO:0046666 8.62 FASLG BAX

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 YIPF3 YIPF2 WT1 TRPC6 SYNPO SRPK1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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