Hepatic Nuclear Factor 1B Mutation

Rare Disease Group

The HNF1B rare disease group (RDG) covers all diseases associated with mutations and deletions in this gene. These include renal developmental disorders, most commonly renal cysts. The most common problem outside the kidneys is diabetes. When diabetes and renal cysts occur together this is known as the renal cysts and diabetes (RCAD) syndrome. Other clinical features may include hyperuricaemia and gout, hypomagnesaemia, abnormal liver function tests, pancreatic exocrine deficiency and genital tract malformations.

We aim to increase clincians’ awareness of these presentations, improve recognition and streamline diagnosis, particularly at a genetic level. To do this we are studying genetic information on patients with well-defined clinical features. We hold open meetings to inform and support patients and their families.

A very successful patient information day was held in Bristol on 15th September 2018. Another day is planned for 2020

The first HNF1B patient information day was held in September 2012. Presentations are available here. 

The second patient information day took place on Saturday 27th February 2016 at the Nowgen Centre, 29 Grafton Street, Manchester. Presentations are available here.


Dr Coralie Bingham presented an update on HNF1B at the rare disease session at UKKW in Harrogate 2018.

Prof Adrian Woolf presented preliminary results on growing mini-kidneys in a dish from HNF1B patient stem cells at the European Society of Paediatric Nephrology (Turkey 2018) and at the HNF1B family day (Bristol 2018)

Clissold RL, Harries LW, Ellard S, Bingham C, Hattersley AT (2018): Comment on Dubois-Laforgue et al. diabetes, associated clinical spectrum, long-term prognosis, and genotype/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Care 40:1436-1443. Diabetes Care 41:e7

Clissold RL, Fulford J, Kinsella D, Hudson M, Shields B, McDonald T, Ellard S, Hattersley AT, Bingham C (2018): Exocrine pancreatic dysfunction is common in HNF1B-associated renal disease and can be symptomatic. Clinical Kidney Journal 01.18

Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C (2016): Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney International 90:203-211

Bockenhauer D, Jaureguiberry G (2016): HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol 31(5): 707-14


HNF1B RDG Annual Report 2019 – 2020

  • Dr Shazia Adalat, Research Fellow, UCL
  • Dr Coralie Bingham, Adult Nephrologist, Exeter RDG Lead
  • Dr Detlef Bockenhauer, Paediatric Nephrologist ,GOSH
  • Dr Rhian Clissold, Research Fellow, Exeter
  • Prof Sian Ellard, Head of Molecular Genetics Lab, Exeter
  • Dr Sally Feather, Paediatric Nephrologist, Leeds
  • Dr Kate Hillman, Adult Nephrologist, Manchester
  • Dr Larissa Kerecuk, Paediatric Nephrologist, Birmingham
  • Mr Grant King, Patient Representative
  • Dr John Sayer, Adult Nephrologist, Newcastle
  • Prof Neil Turner, Adult Nephrologist, Edinburgh
  • Dr Paul Winyard, Fetal Medicine and Neonates, UCL
  • Prof Adrian Woolf, Manchester Renal Genetics Clinic


NICE accredited clinical practice guidelines 

Available here

22nd Annual Report

Analyses about care provided to patients at UK renal centres.

Read the report


A report on the nationwide collection of AKI warning test scores. 

Read the report