loading...| Preferred Name |
Denys-Drash syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_220 |
| alternative_term |
Drash syndrome Wilms tumor-DSD syndrome Wilms tumor-disorder of sex development 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 Neonatal Infancy |
| hasDbXref |
MeSH:D030321 MedDRA:10070179 OMIM:194080 UMLS:C0950121 ICD-11:LD2A.Y ICD-10:N04.1 |
| label |
Denys-Drash syndrome |
| notation |
ORPHA:220 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_567562 http://www.orpha.net/ORDO/Orphanet_98087 |
| prefixIRI |
ORDO:Orphanet_220 |
| prefLabel |
Denys-Drash syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Worldwide AND has_cases/families_value : 300.0 (Case) |
| treeView |
http://www.orpha.net/ORDO/Orphanet_567562 http://www.orpha.net/ORDO/Orphanet_98087 |
| subClassOf |