Denys-Drash syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES DDS drash syndrome Wilms tumor and pseudohermaphroditism |
| Number of Symptoms | 21 |
| OrphanetNr: | 220 |
| OMIM Id: |
194080
|
| ICD-10: |
N04.1 |
| UMLs: |
C0950121 |
| MeSH: |
D030321 |
| MedDRA: |
10070179 |
| Snomed: |
236385009 |
Prevalence, inheritance and age of onset:
| Prevalence: | 150 cases [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Polymalformative genetic syndrome with increased risk of developing cancer
-Rare genetic disease -Rare oncologic disease Primary glomerular disease -Rare genetic disease -Rare renal disease Syndrome with 46,XY disorder of sex development -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Syndrome with disorder of sex development of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000037) | Male pseudohermaphroditism | Very frequent [Orphanet] | 25 / 7739 | |||
|
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(HPO:0000100) | Nephrotic syndrome | Very frequent [Orphanet] | 83 / 7739 | |||
|
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(HPO:0003774) | Stage 5 chronic kidney disease | 78 / 7739 | ||||
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(HPO:0010459) | True hermaphroditism | 5 / 7739 | ||||
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(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000097) | Focal segmental glomerulosclerosis | 37 / 7739 | ||||
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(HPO:0000133) | Gonadal dysgenesis | Occasional [Orphanet] | 21 / 7739 | |||
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(HPO:0000062) | Ambiguous genitalia | 74 / 7739 | ||||
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(HPO:0000150) | Gonadoblastoma | 8 / 7739 | ||||
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(HPO:0000033) | Ambiguous genitalia, male | 9 / 7739 | ||||
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(HPO:0002667) | Nephroblastoma | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0001967) | Diffuse mesangial sclerosis | 11 / 7739 | ||||
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(HPO:0000093) | Proteinuria | Very frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000061) | Ambiguous genitalia, female | 8 / 7739 | ||||
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(HPO:0003248) | Gonadal tissue inappropriate for external genitalia or chromosomal sex | 1 / 7739 | ||||
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(HPO:0000149) | Ovarian gonadoblastoma | 2 / 7739 | ||||
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(HPO:0000776) | Congenital diaphragmatic hernia | 36 / 7739 | ||||
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
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(OMIM) | Chronic/endstage renal failure | 1 / 7739 | ||||
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(HPO:0001428) | Somatic mutation | 100 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Drash et al. (1970) reported 2 unrelated children with a syndrome comprising pseudohermaphroditism, Wilms tumor, hypertension, and degenerative renal disease. Barakat et al. (1974) reported 3 cases of pseudohermaphroditism, nephron disorder, and Wilms tumor, and made reference to ... |
| Molecular genetics OMIM |
In 10 patients with Denys-Drash syndrome, Pelletier et al. (1991) identified mutations in the WT1 gene (607102.0003-607102.0006). Baird et al. (1992) demonstrated heterozygous constitutional mutations in 6 of 8 patients with the Denys-Drash syndrome. The mutations were the ... |