loading...| Preferred Name |
Denys-Drash syndrome |
|
| Synonyms |
Drash syndrome |
|
| Definitions |
A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_220 |
|
| alternative_term |
Drash syndrome Wilms tumor-disorder of sex development syndrome Wilms tumor-DSD syndrome |
|
| definition |
A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 |
|
| has_age_of_onset |
Adolescent Childhood Infancy Neonatal |
|
| hasDbXref |
OMIM:194080 UMLS:C0950121 ICD-10:N04.1 MeSH:D030321 ICD-11:LD2A.Y MedDRA:10070179 |
|
| label |
Denys-Drash syndrome |
|
| notation |
ORPHA:220 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_325638 http://www.orpha.net/ORDO/Orphanet_183422 |
|
| prefixIRI |
ORDO:Orphanet_220 |
|
| prefLabel |
Denys-Drash syndrome |
|
| present_in |
Worldwide AND has_cases/families_value : 300.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_325638 http://www.orpha.net/ORDO/Orphanet_183422 |
|
| subClassOf |