Table 2. Selected gene mutations associated with CAKUT syndromes.
| Syndrome | Gene | Inheritance | Renal Phenotypes |
|---|---|---|---|
| Alagille |
JAG1
(Notch signaling pathway) |
AD | Agenesis, hypoplasia, cystic dysplasia, UPJ obstruction, VUR |
| Aniridia-Wilms tumor (WAGR) | WT1 | AD | Tumor, nephromegaly |
| ATR-X | ATRX | X-linked | Hypoplasia, agenesis, VUR, hydronephrosis |
| Branchio-oto-renal | EYA1, SIX1 | AD | Hypoplasia, VUR |
| Caudal regression | VANGL1 | AD, AR | Agenesis, ectopic kidney, hypoplasia, hydronephrosis, VUR |
| CHARGE | CHD7 | AD | Agenesis, hypodysplasia, hydronephrosis, hydroureter |
| Cornelia de Lange | NIPBL | AD | Hypoplasia, VUR, pelvic dilatation, ectopia |
| Fraser | FRAS1, FREM2 | AR | Renal agenesis, cystic dysplasia, hypoplasia, hydronephrosis, bladder agenesis |
| Hypoparathyroidism–deafness–renal | GATA3 | AD | Agenesis, hypodysplasia, VUR |
| Kallmann | KAL1, KAL2 | X-linked or AD | Unilateral renal agenesis, VUR, cystic dysplasia |
| Maturity-onset diabetes of the young type V | HNF1β | AD | Cystic dysplasia, hypoplasia, glomerulocystic, agenesis, oligomeganephronia |
| Meckel–Gruber | MKS1–4 | AR | Cystic dysplasia, hypoplasia |
| Noonan | NS1 | AD | Cystic dysplasia, duplication, hydronephrosis |
| Okihiro (acro-renal-ocular) | SALL4 | AD | Pelvic or horseshoe kidney, hypoplasia, VUR |
| Pallister–Hall |
GLI3
(member of sonic hedgehog signaling pathway) |
AD | Agenesis, hydronephrosis, hydroureter, renal ectopia, horseshoe kidney |
| Renal coloboma | PAX2 | AD | Hypoplasia, VUR, UPJ obstruction |
| Renal-hepatic-pancreatic dysplasia | EVC, EVC2 | AR | Cystic dysplasia |
| Rubinstein–Taybi |
CBP
EP300 |
AD | Unilateral agenesis, cystic hypodysplasia, urethral defects |
| Roberts | ESCO2 | AR | Agenesis, hypodysplasia, hydronephrosis |
| Silverman (dyssegmental dwarfism) | HSPG2 | Uncertain | Hydronephrosis |
| Simpson–Golabi–Behmel | GPC-3 | X-linked | Medullary cystic dysplasia |
| Smith–Lemli–Opitz | DHCR7 | AR | UPJ obstruction, hydronephrosis, VUR, cystic dysplasia |
| Townes–Brocks | SALL1 | AD | Agenesis, hypoplasia, PUV, VUR, meatal stenosis |
| Zellweger | PEX | AR | Cystic dysplasia, hydronephrosis |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive.
Note: Not included are nephronophthisis and polycystic kidney diseases, which are addressed in a separate review.