Table III. Syndromic CAKUT (Part 1). Table 1. Multiorgan syndromes associated with CAKUT in humans Table III. Syndromic CAKUT (Part 1). Syndrome MOI Gene Extrarenal phenotype Renal phenotype Alagille AD JAGGED1 Intrahepatic cholestasis Cystic dysplasia abnormalities of heart, eyes and vertebrae Apert AD FGFR2 Craniosynostosis, syndactyly Hydronephrosis Beckwith- AD p57KIP2 Macroglossia, gigantism, Medullary dysplasia Wiedemann visceromegaly Wilms’ tumor Branchio-oto- AD Eya1 Deafness, ear malformations, Unilateral or bilateral Renal Six1 branchial cysts renal agenesis, VUR Six5 renal hypodysplasia Campomelic AD Sox9 Short and bowed femora and Hydroureter, renal dysplasia tibiae, hypoplastic vertebrae hypodysplasia, cranial anomalies, heart defects hydronephrosis Fraser AR Fras1 Cryptophthalmos, syndactyly Renal agenesis, dysplasia ear and heart defects HDR AD Gata3 Hypoparathyroidism Renal dysplasia sensorineural deafness Jeune AR Ift80 Skeletal dysplasia with small Cystic kidney disease thorax Kallman XL Kal1 Anosmia, hypogonadotrophic Renal agenesis hypogonadism Mammary- AD Tbx3 Posterior limb deficiencies Renal dysplasia ulnar hypoplastic teeth and breasts delayed pubertal development

Table III. Syndromic CAKUT (Part 2). Table 1. Multiorgan syndromes associated with CAKUT in humans Table III. Syndromic CAKUT (Part 2). Syndrome MOI Gene Extrarenal phenotype Renal phenotype Okihiro AD Sall4 Limb, anorectal, ear, heart, eye Renal agenesis, VUR movement abnormalities cross-fused ectopia Pallister-Hall AD Gli3 Polysyndactyly, hypothalamic Renal dysplasia hamartoma, tracheal stenosis imperforate anus Renal-coloboma AD Pax2 Optic nerve coloboma Renal hypoplasia, VUR hearing loss Renal tubular AR AGT Oligohydramnios, facial Tubular dysplasia dysgenesis Renin dysmorphia, arthrogryposis ACE lung hypoplasia, skull AT1R ossification defect Renal cysts AD HNF1β MODY, genital anomalies Glomerulocystic kidney and diabetes disease, MCDK, uni- or bilateral cystic kidneys renal hypodysplasia horseshoe kidney oligomeganephronia Rubenstein- AD Crebbp Mental retardation, heart defects Renal hypolasia Taybi broad thumbs and toes Simpson-Golabi- XL Gpc3 Somatic overgrowth, tumors Medullary dysplasia Behmel Smitz-Lemni- AR 7-HCR Microcephaly, mental retardation Renal agenesis, dysplasia Opitz micrognathia, ptosis of eyelids poly/syndatyly, cataracts heart defects Townes-Brock AD Sall1 Anal atresia, sensorineural Renal hypodysplasia, VUR hearing loss, triphalangeal thumbs Zellweger AR Pex1 Dysmorphic facial features Cystic dysplasia, VUR neurologic dysfunction