Primary disease | Gene | Kidney phenotype |
Alagille syndrome | JAGGED1, NOTCH2 | Cystic dysplasia |
Apert syndrome | FGFR2 | Hydronephrosis |
Bardet-Biedl syndrome | BBS1 | Cystic dysplasia |
Beckwith-Wiedemann syndrome | Dysregulation of imprinting in chromosome 11p15.5 | Medullary dysplasia |
Branchio-oto-renal syndrome | EYA1, SIX1, SIX5 | Unilateral/bilateral agenesis/dysplasia, hypoplasia, collecting system anomalies |
Campomelic dysplasia | SOX9 | Dysplasia, hydronephrosis |
Cenani-Lenz syndrome | LRP4 | Agenesis, UPJO |
DiGeorge syndrome | 22q11.2 deletions | Agenesis, dysplasia |
Fraser syndrome | FRAS1, FREM2, GRIP1 | Agenesis, dysplasia |
Hypoparathyroidism, sensorineural deafness, and renal anomalies | GATA3 | Dysplasia |
Kallmann syndrome | KAL1, SEMA3A | Agenesis |
Mammary-Ulnar syndrome | TBX3 | Dysplasia |
Meckel Gruber syndrome | MKS1, MKS3, NPHP6, NPHP8 | Cystic dysplasia |
Nephronophthisis | CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, TMEM 67, TTC21B | Cystic dysplasia |
Okihiro syndrome | SALL4 | Unilateral agenesis, VUR, malrotation, cross-fused ectopia |
Pallister-Hall syndrome | GLI3 | Agenesis, dysplasia, hydronephrosis |
Renal-coloboma (papillorenal) syndrome | PAX2 | Hypoplasia, VUR |
Renal cysts and diabetes syndrome | HNF1b, TCF2 | Dysplasia, hypoplasia |
Renal dysplasia, isolated (cystic or noncystic) | DACH1, BICC1, CDC5L, NRIP1 | Dysplasia |
Renal hypoplasia, isolated | BMP4, RET, DSTYK | Hypoplasia, VUR; DSTYK variants also associated with UPJO |
Renal tubular dysgenesis | Renin, angiotensinogen, ACE, AT1 receptor | Tubular dysgenesis |
Rubinstein-Taybi syndrome | CREBBP | Agenesis, hypoplasia |
Simpson-Golabi Behmel syndrome | GPC3 | Medullary dysplasia |
Townes-Brock syndrome | SALL1 | Hypoplasia, dysplasia, VUR |
Zellweger syndrome | PEX1 | Cystic dysplasia |
Smith-Lemli-Opitz syndrome | DHCR7 | Renal hypoplasia, cysts, and aplasia |
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