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Start free with EleplanHNF1B-related autosomal dominant tubulointerstitial kidney disease
ORPHA:93111Clinical subtype
Also called 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
What it is
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.
Key facts
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Signs and symptoms
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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