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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: 46, XY Disorders of Sex Development (D058490)
Parent Node: Wilms Tumor (D009396)
..Starting node ..Denys-Drash Syndrome (D030321)
Child Nodes:
Sister Nodes:
..Denys-Drash Syndrome (D030321)
..Familial Wilms tumor 2 (C536853)
..Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor (C536399)
..WAGR Syndrome (D017624) 2
..Wilms Tumor 3 (C565991)
..Wilms Tumor 4 (C563336)
..WILMS TUMOR 5 (OMIM:601583)
..Wilms tumor and radial bilateral aplasia (C536707)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3204

Name:

Denys-Drash Syndrome

Definition:

A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

Alternative IDs:

OMIM:194080

ParentIDs:

MESH:D009396|MESH:D058490

TreeNumbers:

C04.557.435.595.220 |C04.588.945.947.535.585.220 |C04.700.635.220 |C12.706.316.096.562 |C12.758.820.750.585.220 |C12.777.419.473.585.220 |C13.351.875.253.096.562 |C13.351.937.820.535.585.220 |C13.351.968.419.473.585.220 |C16.131.939.316.096.562 |C16.320.700.642.22

Synonyms:

Slim Mappings:

Reference:

MedGen: D030321
MeSH: D030321
OMIM: 194080;

Genes: WT1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000061	Ambiguous genitalia, female
3	HP:0000033	Ambiguous genitalia, male
4	HP:0000776	Congenital diaphragmatic hernia
5	HP:0001967	Diffuse mesangial sclerosis
6	HP:0000097	Focal segmental glomerulosclerosis
7	HP:0000133	Gonadal dysgenesis
8	HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex
9	HP:0000822	Hypertension
10	HP:0000037	Male pseudohermaphroditism
11	HP:0002667	Nephroblastoma
12	HP:0000112	Nephropathy
13	HP:0000100	Nephrotic syndrome
14	HP:0000149	Ovarian gonadoblastoma
15	HP:0001428	Somatic mutation
16	HP:0003774	Stage 5 chronic kidney disease
17	HP:0010459	True hermaphroditism

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_024426.4(WT1):c.1432+5G>A	7490	WT1	Pathogenic	587776576	RCV000030876; RCV000003665; RCV000208283;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009; MedGen:C0950122,OMIM:136680,ORPHA:347,SNOMED CT:445431000; MedGen:CN043611	11	32413513	32413513	NM_024426.4:c.1432+5G>A			OMIM Allelic Variant:607102.0009,OMIM Allelic Variant:607102.0020	C0950121 194080 Drash syndrome; C0950122 136680 Frasier syndrome; CN043611 Hereditary Nephrotic Syndromes
NM_024426.4(WT1):c.1391A>G (p.Asp464Gly)	7490	WT1	Pathogenic	121907902	RCV000003660;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32413559	32413559	NM_024426.4:c.1391A>G	NP_077744.3:p.Asp464Gly	NC_000011.9:g.32413559T>C	OMIM Allelic Variant:607102.0005	C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1390G>A (p.Asp464Asn)	7490	WT1	Pathogenic	28941778	RCV000003661; RCV000003662;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32413560	32413560	NM_024426.4:c.1390G>A	NP_077744.3:p.Asp464Asn	NC_000011.9:g.32413560C>T	OMIM Allelic Variant:607102.0006,OMIM Allelic Variant:607102.0023	C0268747 256370 Diffuse mesangial sclerosis; C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1385G>C (p.Arg462Pro)	7490	WT1	Pathogenic	121907903	RCV000003663;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32413565	32413565	NM_024426.4:c.1385G>C	NP_077744.3:p.Arg462Pro	NC_000011.9:g.32413565C>G	OMIM Allelic Variant:607102.0007	C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1384C>T (p.Arg462Trp)	7490	WT1	Pathogenic	121907900	RCV000003656; RCV000003657; RCV000003658;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009; MedGen:C1837026,OMIM:608978,ORPHA:3097	11	32413566	32413566	NM_024426.4:c.1384C>T	NP_077744.3:p.Arg462Trp	NC_000011.9:g.32413566G>A	OMIM Allelic Variant:607102.0003	C0268747 256370 Diffuse mesangial sclerosis; C0950121 194080 Drash syndrome; C1837026 608978 Meacham syndrome
NM_024426.4(WT1):c.1333C>T (p.His445Tyr)	7490	WT1	Pathogenic	28942089	RCV000003667; RCV000003668;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32414218	32414218	NM_024426.4:c.1333C>T	NP_077744.3:p.His445Tyr	NC_000011.9:g.32414218G>A	OMIM Allelic Variant:607102.0012,OMIM Allelic Variant:607102.0021	C0268747 256370 Diffuse mesangial sclerosis; C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1323C>G (p.His441Gln)	7490	WT1	Pathogenic	121907907	RCV000003672;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32414228	32414228	NM_024426.4:c.1323C>G	NP_077744.3:p.His441Gln	NC_000011.9:g.32414228G>C	OMIM Allelic Variant:607102.0015	C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1301G>A (p.Arg434His)	7490	WT1	Pathogenic	121907901	RCV000003659;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32414250	32414250	NM_024426.4:c.1301G>A	NP_077744.3:p.Arg434His	NC_000011.9:g.32414250C>T	OMIM Allelic Variant:607102.0004	C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1288C>T (p.Arg430Ter)	7490	WT1	Pathogenic	121907906	RCV000003671; RCV000003670;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009; MedGen:CN033288,OMIM:194070	11	32414263	32414263	NM_024426.4:c.1288C>T	NP_077744.3:p.Arg430Ter	NC_000011.9:g.32414263G>A	OMIM Allelic Variant:607102.0014,OMIM Allelic Variant:607102.0017	C0950121 194080 Drash syndrome; CN033288 194070 Wilms tumor 1
NM_024426.4(WT1):c.1282T>G (p.Cys428Gly)	7490	WT1	Pathogenic	121907905	RCV000003669;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32414269	32414269	NM_024426.4:c.1282T>G	NP_077744.3:p.Cys428Gly	NC_000011.9:g.32414269A>C	OMIM Allelic Variant:607102.0013	C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1250-32C>A	7490	WT1	Benign	2234593	RCV000210050;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32414333	32414333	NM_024426.4:c.1250-32C>A		NC_000011.9:g.32414333G>T	-	C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1250-52G>T	7490	WT1	Benign	869312745	RCV000210056;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32414353	32414353	NM_024426.4:c.1250-52G>T		NC_000011.9:g.32414353C>A	-	C0950121 194080 Drash syndrome
NM_024426.4(WT1):c.1193G>A (p.Cys398Tyr)	7490	WT1	Pathogenic	121907904	RCV000003664;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009	11	32417859	32417859	NM_024426.4:c.1193G>A	NP_077744.3:p.Cys398Tyr	NC_000011.9:g.32417859C>T	OMIM Allelic Variant:607102.0008	C0950121 194080 Drash syndrome