Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Variants (also called mutations) in the UMOD gene cause ADTKD-UMOD. This gene provides instructions for making the uromodulin protein. This protein is produced by the kidneys and then released from the body in urine. Uromodulin is the most common protein found in the urine of healthy individuals. It is thought to play a role in the transport of minerals such as sodium and potassium.
Most variants in the UMOD gene change single protein building blocks (amino acids) in the uromodulin protein. These variants typically alter the structure of the protein, though some variants have more severe effects on protein function than others. People with UMOD variants that have a greater effect on protein function generally have severe kidney disease, and these individuals experience signs and symptoms of kidney disease at a younger age. Typically, UMOD gene variants prevent kidney cells from releasing the uromodulin protein. The buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, leading to kidney disease and eventual kidney failure.
","key":"forms","title":"What causes Autosomal dominant tubulointerstitial kidney disease-UMOD?"},{"bodyHtml":"People with ADTKD-UMOD typically develop high levels of a waste product called uric acid in their blood. Normally, the kidneys transfer uric acid from the blood into urine, which then removes it from the body. People with ADTKD-UMOD are unable to remove uric acid from the blood effectively. In about 50 percent of people with ADTKD-UMOD, uric acid builds up in the joints and causes a form of arthritis called gout, typically in late adolescence or early adulthood. Gout is characterized by a sudden onset of severe joint pain and redness, often starting in the big toe. Untreated episodes of gout typically worsen over time.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"autosomal-dominant-tubulointerstitial-kidney-disease-umod","sourceDocuments":[{"name":"Autosomal dominant tubulointerstitial kidney disease-UMOD","reviewed":"2024-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:40.431594+00:00","label":"Causes","pageSha256":"ca22fa830995ee1a90e7d74beb7084d890c118138a78ab75a207a18690954a00","sourceUrl":"https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Autosomal dominant tubulointerstitial kidney disease-UMOD"},"schemaVersion":1}