Table 1.
OMIM | Gene Symbol | Phenotype | Syndrome | Mode of Inheritance |
---|---|---|---|---|
Isolated forms of renal hypodysplasia/CAKUT (including solitary functioning kidney) | ||||
612666 | DSTYK | RHD, PUJO | — | Dominant |
137920 | HNF1B | RHD | Renal cysts and diabetes syndrome | Dominant |
120330/191830 | PAX2 | RHD | Papillorenal syndrome | Dominant |
219000 | FRAS1, FREM 1 | Renal agenesis, RHD | Fraser syndrome | Dominant/Recessive |
611559 | UPK3A | Renal adysplasia/urogenital adysplasia | — | Dominant |
112262 | BMP4 | RHD, renal agenesis | — | Dominant |
191830 | RET | Renal agenesis | Hirschsprung’s disease | Dominant |
Syndromic forms of renal hypodysplasia/CAKUT (including solitary functioning kidney) | ||||
113650 | EYA1, SIX1, SIX5 | Renal agenesis, RHD | Branchio-oto-renal syndrome | Dominant |
107480 | SALL1 | Renal agenesis, RHD, VUR, renal ectopia | Townes–Brocks (branchio-oto-renal–like syndrome) | Dominant |
607323 | SALL4 | Renal ectopia, CAKUT | Okihiro syndrome | Dominant |
308700 | KALL1, FGFR1 | Renal agenesis, RHD | Kallman’s syndrome | Dominant |
610132 | VANGL1 | Renal agenesis, RHD, renal ectopia | VACTERL/caudal regression syndrome | Dominant |
142994 | MNX1 | Renal agenesis, RHD, renal ectopia, VUR | VACTERL/caudal regression syndrome/Currarino syndrome | Dominant |
118450 | JAG1, NOTCH2 | RHD, MCDK | Alagille syndrome | Dominant |
214800 | CHD7 | Renal agenesis, RHD, renal ectopia, VUR | CHARGE syndrome | Dominant |
146255 | GATA3 | RHD | Hypothyroidism, sensorial deafness | Dominant |
161200 | LMX1B | Renal agenesis | Nail patella syndrome | Dominant |
122470 | NIPBL | Renal agenesis, RHD | Cornelia de Lange syndrome | Dominant |
180849 | CREBBP | Renal agenesis, RHD, VUR | Rubinstein–Taybi syndrome | Dominant |
147920 | MLL2 | VUR, RHD, renal ectopia | Kabuki syndrome (VUR) | Dominant |
146510 | GLI3 | Renal agenesis, RHD | Pallister–Hall syndrome | Dominant |
130650 | KIP2 | RHD, VUR | Beckwith–Wiedemann syndrome | Dominant |
181450 | TBX3 | Renal agenesis, RHD | Ulnar–Mammary’s syndrome | Dominant |
270400 | DHCR7 | RHD, cysts, renal agenesis, VUR | Smith–Lemli–Opitz syndrome | Recessive |
214100 | PEX family | RHD, cysts | Zellweger syndrome | Recessive |
277000 | WNT4 | Renal agenesis, RHD, renal ectopia | Rokitansky syndrome | Dominant |
300209 | GPC3 | RHD, cysts, VUR | Simpson–Golabi–Behmel syndrome | X-linked |
OMIM, Online Mendelian Inheritance in Man; CAKUT, congenital anomalies of the kidney and urinary tract; RHD, renal hypodysplasia; PUJO, pelviureteric junction obstruction; VUR, vesicoureteric reflux; VACTERL; MCDK, multicystic dysplastic kidney; CHARGE, coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.