Denys-Drash syndrome
Synonyms: Drash syndrome · Wilms tumor-DSD syndrome · Wilms tumor-disorder of sex development syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Denys-Drash syndrome | Drash syndrome · Wilms tumor-DSD syndrome · Wilms tumor-disorder of sex development syndrome |
| fr | Syndrome de Denys-Drash | Syndrome de Drash · Syndrome de tumeur de Wilms-DSD · Syndrome de tumeur de Wilms-anomalie du développement sexuel |
| de | Denys-Drash-Syndrom | Drash-Syndrom · Wilms Tumor mit Störung der Geschlechtsentwicklung · Wilms-Tumor-DSD-Syndrom |
| es | Síndrome de Denys-Drash | Síndrome de tumor de Wilms-ADS · Síndrome de tumor de Wilms-anomalia del desarrollo sexual |
| it | Sindrome di Denys-Drash | Sindrome di Drash · Tumore di Wilms - pseudoermafroditismo |
| nl | Syndroom van Denys-Drash | Syndroom van Drash · Wilmstumor - DSD-syndroom · Wilmstumor - geslachtsontwikkelingsstoornis-syndroom |
| pt | Síndrome Denys-Drash | Síndrome de tumor de Wilms-DSD · Síndrome de tumor de Wilms-doença do desenvolvimento sexual · Síndrome Drash |
| pl | Zespół Denysa i Drasha | Guz Wilmsa i pseudohermfrodytyzm · Zespół Drasha |
| cs | Denysův-Drashův syndrom | Drashův syndrom · Wilmsův tumor a pseudohermafroditismus · Denys-Drashův syndrom |
| uk | Синдром Дениса-Драша | Синдром Драша · Синдром пухлини Вільмса - порушення статевого розвитку · Пухлина Вільмса - синдром DSD |
| zh | Denys-Drash综合征 | Wilms瘤-性分化障碍综合征 |
| tr | Denys-Drash sendromu | Drash sendromu · Wilms tümörü-DSD sendromu · Wilms tümör-cinsiyet gelişim sendromu bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 194080 | E | validated | |
| ICD-10 | N04.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 0008682 | E | validated | |
| MeSH | D030321 | E | validated | |
| UMLS | C0950121 | E | validated | |
| GARD | 5576 | E | validated | |
| MedDRA | 10070179 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor | 1655284[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2017-08-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0002667 | Nephroblastoma | |
| HP:0000112 | Nephropathy | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000093 | Proteinuria | |
| Frequent (79-30%) | ||
| HP:0000822 | Hypertension | |
| Occasional (29-5%) | ||
| HP:0000133 | Gonadal dysgenesis | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/220
- This record as JSON: /data/d/220.json