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Details
Link-It Detail - Disease - Denys-Drash Syndrome
Debug Stats
  • ### Total Build Time: 183 ms 27.701 KB
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  • Reload Stats
Disease (1)
Denys-Drash Syndrome C0950121
Definition (1)
A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders.
Semantic Types (2)
Congenital Abnormality (T019)
Neoplastic Process (T191)
Parents (1)
img Wilms Tumor C0027708
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Neoplastic Syndromes, Hereditary C00276724img Wilms Tumor C0027708
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Wilms Tumor C0027708
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208877img Wilms Tumor C0027708
img Male Urogenital Diseases C1720894img Urologic Diseases C00420756img Wilms Tumor C0027708
img Male Urogenital Diseases C1720894img Urogenital Neoplasms C00420656img Wilms Tumor C0027708
img Neoplasms C0027651img Neoplasms by Site C00276537img Wilms Tumor C0027708
img Neoplasms C0027651img Neoplasms by Histologic Type C00276525img Wilms Tumor C0027708
Relationships (26)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 21
diso_​to_​gene : 1
diso_​to_​phen : 2


Relationships:
none : 5
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 19
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_CHEM13img WT1 Protein C0148873
DISO_to_CHEM13img WT1 Proteins C0148873
DISO_to_GENE10img Genes, Wilms Tumor C0079433
DISO_to_DISOmanifestation_ofimg Ambiguities, Genital C0266362
DISO_to_DISOmanifestation_ofimg Caused by mutation in the Wilms tumor 1 gene (WT1, 607102.0003). C1860273
DISO_to_DISOmanifestation_ofimg Chronic/endstage renal failure C1860270
DISO_to_DISOmanifestation_ofimg Death usually due to renal failure by average age 3 C1860274
DISO_to_DISOalias_ofimg Denys-Drash Syndrome C0950121
DISO_to_DISOmanifestation_ofimg Diaphragmatic hernia (rare) C1860272
DISO_to_DISOmanifestation_ofimg Diffuse mesangial sclerosis glomerulopathy C1860271
DISO_to_DISOmanifestation_ofimg Focal glomerulosclerosis C0017668
DISO_to_DISOmanifestation_ofimg GBY C0206661
DISO_to_DISOmanifestation_ofimg Gonadal Dysgenesis C0018051
DISO_to_DISOmanifestation_ofimg Gonadal tissue inappropriate for external genitalia or chromosomal sex C1860268
DISO_to_DISOmanifestation_ofimg Gonadoblastoma C0206661
DISO_to_DISOmanifestation_ofimg Hypertension C0020538
DISO_to_DISOmanifestation_ofimg Kidney Diseases C0022658
DISO_to_DISOmanifestation_ofimg Male Pseudohermaphroditism C0238395
DISO_to_DISOmanifestation_ofimg Most case are sporadic C1865403
DISO_to_DISOmanifestation_ofimg Nephroblastoma C0027708
DISO_to_DISOmanifestation_ofimg Nephrotic Syndrome C0027726
DISO_to_DISOmanifestation_ofimg Phenotypic overlap with WAGR syndrome (194072), Frasier syndrome (136680) C1860275
DISO_to_DISOinheritance_type_ofimg Somatic mutation C0544886
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanWT17490Wilms tumor 1
img GAD, Score=1000, Pubmed Id: 8956030, UMLKSK CUI: C0950121
img GENERIF, Score=1000, Pubmed Id: 12161615, UMLKSK CUI: C0950121
img GENERIF, Score=668, Pubmed Id: 11933209, UMLKSK CUI: C0950121
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0950121Denys-Drash Syndrome0self