1. 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 FGFR Craniosynostosis, syndactyly Hydronephrosis
Beckwith AD p57KIP Macroglossia, gigantism, Medullary dysplasia
Wiedemann visceromegaly Wilms’ tumor
Branchio-oto AD Eya Deafness, ear malformations, Unilateral or bilateral
Renal Six branchial cysts renal agenesis, VUR
Six renal hypodysplasia
Campomelic AD Sox Short and bowed femora and Hydroureter, renal
dysplasia tibiae, hypoplastic vertebrae hypodysplasia,
cranial anomalies, heart defects hydronephrosis
Fraser AR Fras Cryptophthalmos, syndactyly Renal agenesis, dysplasia
ear and heart defects
HDR AD Gata Hypoparathyroidism Renal dysplasia
sensorineural deafness
Jeune AR Ift Skeletal dysplasia with small Cystic kidney disease
thorax
Kallman XL Kal Anosmia, hypogonadotrophic Renal agenesis
hypogonadism
Mammary AD Tbx Posterior limb deficiencies Renal dysplasia
ulnar hypoplastic teeth and breasts
delayed pubertal development

2. 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 Sall Limb, anorectal, ear, heart, eye Renal agenesis, VUR
movement abnormalities cross-fused ectopia
Pallister-Hall AD Gli Polysyndactyly, hypothalamic Renal dysplasia
hamartoma, tracheal stenosis
imperforate anus
Renal-coloboma AD Pax 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 Gpc 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 Sall Anal atresia, sensorineural Renal hypodysplasia, VUR
hearing loss, triphalangeal
thumbs
Zellweger AR Pex Dysmorphic facial features Cystic dysplasia, VUR
neurologic dysfunction