Table 6.
Congenital abnormalities of the kidney and urinary tract (CAKUT).
| CONGENTIAL ABNOR-MALITIES OF THE KIDNEY AND URINARY TRACT (CAKUT) | OMIM | MOI | Renal features | Extrarenal features | Gene |
|---|---|---|---|---|---|
| CAKUT | *601090 | AD | CAKUT | iridiodysgenesis | FOXC1, forkhead transcription factor C1 |
| Renal agenesis (RA) | #191830 | AD | Renal agenesis/adysplasia, VUR | Allelic with MEN2A; Facial defects | RET, ret protooncogen; UPK3A, uroplakin 3A |
| Renal hypodysplasia (RHD) | *112262 *604994 |
AD | RHD | Microphthalmia, cleft lip | BMP4, bone morpho-genetic protein 4; SIX2, sine oculis 2 |
| Multicystic renal dysplasia (MRD) | *602868 *600390 |
AD AD |
MRD | - | CDC5L, cell division cycle; USF2 |
| Vesicoureteral reflux (VUR 2) | *602431 *603746 |
AD AD |
VUR | Subtle facial and limb defects | ROBO2, roundabout 2; SLIT2 |
| Branchio-oto-renal syndrome (BOR) | *601653 *159980 *601205 *600963 |
AD | CAKUT, RHD, VUR | Deafness, ear malformation, branchial cysts | EYA1, eyes absent 1; MYOG, myogenin; SIX1, sine oculis 1; SIX5, sine oculis 5 |
| Fraser syndrome | *607830 *608945 |
AR AR |
Renal agenesis, RHD | Cryptophthalmos-syndactyly | FRAS1, ECM protein; FREM2, Fras1-related ECM protein |
| HDR syndrome | #146255 | AD | CAKUT | Hypoparathyroidism, deafness, renal defects (HDR) | GATA3, GATA binding protein 3 |
| Kallman syndrome | +308700 | AD | Renal agenesis | Anosmia, hypogenitalism | KAL1, anosmin |
| Renal coloboma syndrome | *167409 | AD | CAKUT (VUR, RHD) | Retinal coloboma | PAX2, paired box gene 2 |
| Renal cysts and diabetes syndrome (RCAD), GCKD | #13792 #609886 |
AD, AD | RHD, cysts | MODY5 diabetes, genital anomalies, GCKD | TCF2/HNF1B, transcription factor 2 |
| Split-hand/split-foot malformation (SHFM) | *603273 | AD | Urethral malformation | SHFM | Bmp7; Dlx5; Dlx6; p63 |
| Townes-Brocks syndrome | #107480 | AD | Renal agenesis, RHD | Limb, ear, anal abnormalities | SALL1 |
AD=autosomal dominant; AD=autosomal recessive; BOR=branchio-oto-renal syndrome; GCKD=glomerulocystic kidney disease; MRD=multicystic renal dysplasia; RCAD=renal cysts and diabetes syndrome, RCS=renal-coloboma syndrome; RHD=renal hypodysplasia; SHFM=Split-hand/split-foot malformation; TBS=Townes-Brocks syndrome; UPJO=ureteropelvic junction obstruction.