HNF1B-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-HNF1B | HNF1B-MODY | HNF1B-related nephropathy | MODY5 | Maturity-onset diabetes of the young type 5 | RCAD syndrome | Renal cysts and diabetes syndrome | Renal dysfunction-early-onset diabetes syndrome
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B which is characterized by chronic tubulo-interstitial nephritis that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia early onset diabetes and extrarenal manifestations.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
HNF1B-related autosomal dominant tubulointerstitial kidney disease?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.