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Start free with EleplanHereditary renal hypouricemia
ORPHA:94088Malformation syndrome
Also called Familial renal hypouricemia
What it is
A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
4Sometimes5–29%
9- Back pain
- Chronic kidney disease
- Decreased glomerular filtration rate
- Hematuria
- Hypercalciuria
- Increased blood urea nitrogen
- Mild proteinuria
- Nausea
and 1 more in this range
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.
Genes
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.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
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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