Introduction and definition
Primary renal agenesis
Primary renal hypoplasia and dysplasia
Kidney development and mouse models
Gene | Human homolog | Kidney phenotype | Reference |
---|---|---|---|
Foxd1 | FOXD1 | Small, fused, undifferentiated kidneys | Hatini et al. [59] |
Eya1 | EYA1 | Absent kidneys | Johnson et al. [60] |
Xu et al. [61] | |||
Emx2 | EMX2 | Absent kidneys | Miyamoto et al. [62] |
Hoxa11/Hoxd11 | HOXA11/HOXD11 | Small or absent kidneys | Davis et al. [63] |
Lhx1 | LHX1 | Absent kidneys | Shawlot and Behringer [64] |
Pax2 | PAX2 | Small or absent kidneys | Torres et al. [65] |
Wt1 | WT1 | Absent kidneys | Kreidberg et al. [66] |
Agtr2 | AGTR2 | Multiple urinary tract malformations | Nishimura et al. [67] |
Bmp4 | BMP4 | Altered ureteric bud (UB) branching | Miyazaki et al. [68] |
Bmp7 | BMP7 | Disrupted nephrogenesis | Dudley et al. [69] |
Wnt4 | WNT4 | Undifferentiated kidneys | Stark et al. [70] |
Ret | RET | Absent kidneys, severe dysgenesis | Schuchardt et al. [71] |
Gdnf | GDNF | Absent kidneys, severe dysgenesis | Sanchez et al. [72] |
Moore et al. [73] | |||
Pichel et al. [74] | |||
Six1 | SIX1 | Absent kidneys | Xu et al. [75] |
Six2 | SIX2 | Small kidneys | Self et al. [76] |
Sall1 | SALL1 | Absent kidneys | Nishinakamura et al. [77] |
Fgfr1/Fgfr2 | FGFR1/FGFR2 | Absent kidneys | Poladia et al. [78] |
Slit3 | SLIT3 | Small or absent kidneys | Liu et al. [79] |
Pbx1 | PBX1 | Small or absent kidneys | Schnabel et al. [80] |
Fgf8 | FGF8 | Small kidneys | Perantoni et al. [81] |
Rara/Rarb2 | RARA/RARB2 | Small kidneys | Mendelsohn et al. [82] |
Lim1 | LIM1 | Absent kidneys | Kobayashi et al. [83] |
Genetic contribution to human renal agenesis/hypoplasia and dysplasia
Syndromic forms
Gene | Human syndrome | Kidney phenotype | OMIM |
---|---|---|---|
JAG1, NOTCH2 | Alagille syndrome | MCDK, kidney dysplasia, kidney mesangiolipidosis | #118450 |
#610205 | |||
BBS1-BBS11 | Bardet-Biedl syndrome | Renal dysplasia and calyceal malformations | #209900 |
EYA1, SIX1, SIX2 | Branchiootorenal syndrome | Renal agenesis/dysplasia | #113650 |
SOX9 | Campomelic dysplasia | Diverse renal malformations | #114290 |
CHD7 | CHARGE syndrome | Diverse urinary tract malformations | #214800 |
Del. 22q11 | Di George syndrome | Renal agenesis, dysplasia, VUR | #188400 |
GATA3 | Hypothyroidism, sensorial deafness, renal anomalies (HDR) | Renal agenesis, dysplasia, VUR | #146255 |
DNA repair | Fanconi anemia | Renal agenesis | #227650 |
FRAS1, FREM2 | Fraser syndrome | Renal agenesis, dysplasia | #219000 |
KALL1, FGFR1 | Kallman’s syndrome | Renal agenesis, dysplasia | #308700, #147950 |
PAX2 | Renal coloboma syndrome | Renal hypoplasia, MCDK, VUR | #120330 |
TCF2 | Renal cysts and diabetes syndrome | Renal dysplasia, cysts | #137920 |
GPC3 | Simpson-Golabi-Behmel syndrome | Renal dysplasia, cysts | #300209 |
DHCR7 | Smith-Lemli-Opitz syndrome | Renal dysplasia, cysts | #270400 |
SALL1 | Townes-Brocks syndrome | Renal dysplasia, lower urinary tract malformations | #107480 |
LMX1B | Nail-patella syndrome | Glomerulus malformation, renal agenesis | #161200 |
NIPBL | Cornelia de Lange syndrome | Renal dysplasia | #122470 |
CREBBP | Rubinstein-Taybi syndrome | Renal agenesis | #180849 |
WNT4 | Rokitansky syndrome | Renal agenesis | #277000 |
PEX-family | Zellweger syndrome | Renal dysplasia, cysts | #214100 |
GLI3 | Pallister-Hall syndrome | Renal agenesis, dysplasia | #146510 |
p57(KIP2) | Beckwith-Wiedemann syndrome | Renal dysplasia | #130650 |
SALL4 | Okihiro syndrome | Renal ectopia with or without fusion, lower urinary tract malformations | #607323 |
TBX3 | Ulnar-Mammary syndrome | Renal agenesis | #181450 |
Chromosomal disorders | Renal agenesis | Hypoplasia | Other associated anomalies |
---|---|---|---|
Patau syndrome (trisomy 13) | + | Holoprosencephaly, midline anomalies, cleft lip/palate | |
Miller-Dieker syndrome (17p13 deletion) | + | MR, lissencephaly, microgyria, agyria, typical facie, seizures | |
Edward syndrome (trisomy 18) 18q deletion | + | IUGR, CHD, clenched hands, rocker bottom feet SS, MR, microcephaly, narrow external ear canals, long hands | |
Down syndrome (trisomy 21) | + | MR, hypotonia, CHD, typical face, clinodactyly | |
Cateye syndrome (tetrasomy 22p) | + | MR, CHD, colobomas, anal/digital anomalies | |
Velocardiofacial syndrome (22q11 deletion) | + | + | Conotruncal CHD, thymic aplasia, typical face, cleft palate |
Turner syndrome (45,X or 46,X,i(Xq)) | + | + | SS, amenorrhea, webbed neck, cubitus valgus, hypogonadism |