| Syndrome/Condition | Gene | Overgrowth Phenotype | Non-Overgrowth Phenotype |
|---|---|---|---|
| High Risk of Wilms Tumor (>20%) | |||
| WAGR syndrome (WAGR spectrum) | WT1 deletion | X | |
| Denys-Drash syndrome | WT1 missense mutation | X | |
| Perlman syndrome | DIS3L2 mutation | X | |
| Fanconi anemia with biallelic mutations in BRCA2 (FANCD1) or PALB2 (FANCN) | BRCA2, PALB2 | X | |
| Premature chromatid separation/mosaic variegated aneuploidy | Biallelic BUB1B or TRIP13 mutation | X | |
| Moderate Risk of Wilms Tumor (5%–20%) | |||
| Frasier syndrome | WT1 intron 9 splice mutation | X | |
| Beckwith-Wiedemann syndrome | Uniparental disomy or H19 epimutation | X | |
| Simpson-Golabi-Behmel syndrome | GPC3 mutation | X | |
| Low Risk of Wilms Tumor (<5%) | |||
| Bloom syndrome | Biallelic BLM mutation | X | |
| DICER1 syndrome | DICER1 mutation | X | |
| Li-Fraumeni syndrome | TP53, CHEK2 | X | |
| Isolated hemihypertrophy | X | ||
| Hyperparathyroidism-jaw tumor syndrome | CDC73 (also known as HRPT2) mutation | X | |
| MULIBREY nanism syndrome | TRIM37 mutation | X | |
| PIK3CA-related segmental overgrowth including CLOVES syndrome | PIK3CA mutation | X | |
| 9q22.3 microdeletion syndrome | 9q22.3 | X | |
| Sotos syndrome | NSD1 | X | |
| Familial Wilms tumor | FWT1 | X | |
| FWT2 | |||
| Genitourinary anomalies | WT1 | X | |
| Sporadic aniridia | WT1 | X | |
| Trisomy 18 | X | ||
CLOVES = congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities; MULIBREY = distinctive abnormalities of the (MU)scles, (LI)ver, (BR)ain, and (EY)es; WAGR = Wilms tumor, aniridia, genitourinary abnormalities, and range of developmental delays.
aAdapted from Treger et al.[12]
From: Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®)
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