Associations
glomerulocystic kidney disease (GCKD)
- autosomal dominant hypoplastic glomerulocystic kidney disease (ADGCKD)((MIM.137920)
early-onset autosomal dominant polycystic kidney disease (early-onset ADPKD)
autosomal recessive polycystic kidney disease (ARPKD)
renal dysplasia
- multicystic dysplastic kidney
- peripheral cystic renal dysplasia associated with lower tract obstruction
malformatives syndromes
- Zellweger syndrome
- Jeune syndrome
- tuberous sclerosis
- trsiomies: trisomy 13,trisomy 18, trisomy 21
- Majewski-tyep short rib polydactyly syndrome
- oro-facio-digital syndrome
- brachymesomelia-renal syndrome
Etiology
HNF1B mutations (HNF1B-glomerular cysts)
References
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. Edghill EL, Bingham C, Ellard S, Hattersley AT. J Med Genet. 2006 Jan;43(1):84-90. Epub 2005 Jun 1. PMID: 15930087