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Start free with EleplanUMOD-related autosomal dominant tubulointerstitial kidney disease
ORPHA:88950Clinical subtype
Also called ADTKD-UMOD · Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation · Familial juvenile hyperuricemic nephropathy type 1 · MCKD2 · Medullary cystic kidney disease type 2 · UAKD · UMOD kidney disease · UMOD-related ADTKD · Uromodulin-associated kidney disease
What it is
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Austria)
- Age of onset
- Adolescent, Adult
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
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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