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Disease Profile

Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Hepatocyte nuclear factor 1 beta–associated disease; Renal cysts and diabetes


Hepatocyte nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems.[1][2] The most common symptoms are associated with kidney abnormalities. Other signs and symptoms may include diabetes at a young age, genital abnormalities, and problems with pancreas and liver function. Not everyone who has an HNF1B-associated disease will have the same signs and symptoms. HNF1B-associated disease is caused by a mistake (mutation) in the HNF1B gene. This is one of the genes responsible for regulating early development of many of the body’s organs. Mutations in HNF1B are inherited in families in an autosomal dominant pattern. HNF1B-associated disease is diagnosed based on the symptoms, family history and genetic testing. Treatment for this condition is based on the symptoms. Kidney disease and kidney failure may be treated with dialysis and kidney transplant. The long-term outlook for people with HNF1B-associated disease depends on the severity of symptoms.[1][2]


The signs and symptoms of HNFB1-associated disease can vary from person to person. Kidney abnormalities associated with HNF1B-associated disease can occur at any age, from infancy to adulthood.[1][5] The kidney abnormalities seen with HNFB1-associated disease can include:

Small, fluid-filled sacs in the kidney (renal cysts
Small, abnormally shaped kidney
An absent kidney
Abnormalities of internal kidney structure
Kidney failure (end-stage renal disease)

Additional signs and symptoms can include [2]:
Diabetes before age 25 (but can occur at any age)
Underdeveloped pancreas and abnormal pancreatic function
High levels of liver enzymes suggesting abnormal liver function 
Abnormalities of the male and female sex organs (genitals)
Over-active parathyroid gland causing too much calcium in the body
Low magnesium levels that can cause muscle weakness and spasms
Gout at a young age
Possible increased risk for kidney cancer

The HNF1B gene is one of many genes found on chromosome 17. In conditions that involve missing pieces of chromosome 17, the HNF1B gene might be missing along with other genes, resulting in a loss of the HNF1B protein and other proteins. Missing pieces of chromosome 17 that involve the HNF1B gene, along with other missing genes, have been associated with epilepsy, autism spectrum disorder and developmental delay.[2][3]


HNF1B-associated disease is caused by a mistake (mutation) in the HNF1B gene, which is responsible for making a protein that is involved in the early development of many different organs within the body.[1] Mutations in the HNF1B gene can cause abnormal development of the kidneys, pancreas, parathyroid gland and liver.[4]


The diagnosis of HNF1B-associated disease is made based on the symptoms and genetic testing. A family history of kidney disease, diabetes or gout at an early age may be helpful, but many people with HNF1B-associated disease are the first person in their family to have the diagnosis. Laboratory testing may include blood tests to monitor kidney function, check for diabetes, and measure magnesium and calcium.[5]


There is no specific treatment for HNF1B-associated disease. Treatment is based on individual symptoms. Kidney disease can be managed with dialysis. Kidney transplant is an option for treating kidney failure.[5] Some people with this condition may also benefit from a pancreas transplant. Gout can be prevented with certain medications (allopurinol or febuxostat) or managed with nonsteroidal anti-inflammatories.[5] Diabetes can be managed with medication and diet.


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support


  1. Verhave JC, Bech AP, Wetzels JFM, Nijenhuis T. Hepatocyte Nuclear Factor 1ß–Associated Kidney Disease: More than Renal Cysts and Diabetes. J Am Soc Nephrol. Feb 2016; 25(2):345-353. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731131.
  2. Bockenhauer D, Jaureguiberry G. HNF1B-associated clinical phenotypes: the kidney and beyond. Ped Nephr. May 2016; 31(5):707-714. https://www.ncbi.nlm.nih.gov/pubmed/26160100.
  3. Owen K. Renal Cyst and Diabetes syndrome. Orphanet. Nov 2014; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12168.
  4. Van der Made CI, Hoorn HJ, de la Faille R, Karaasian H, Knower NV, Hoenderop JG, Vargas Poussou R, de Baaij JH. Hypomagnesemia as first clinical manifestation of ADTKD-HNF1B: A case series and literature review. Am J Nephrol. 2015; 42(1):85-90. https://www.ncbi.nlm.nih.gov/pubmed/26340261.
  5. Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Kidney Disease: Improving Global Outcomes. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int. Oct 2015; 88(4):676-683. https://www.ncbi.nlm.nih.gov/pubmed/25738250.

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