Autosomal dominant Alport syndrome
MONDO:0007086Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.
Also known as: Alport syndrome 3, autosomal dominant, Alport syndrome, autosomal dominant, Alport syndrome dominant type, renal failure and sensorineural hearing loss
22 clinical trials for this condition and its sub-types.
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ER study aims to uncover hidden kidney problems in kids
Knowledge-focused Not yet recruitingThis study will observe 50 children (ages 1 month to 18 years) who come to the emergency room with kidney-related symptoms like swelling, blood in urine, or high blood pressure. Researchers want to learn which kidney diseases are most common and how children respond to initial tr…
Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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30,000 blood samples could revolutionize rapid disease testing
Knowledge-focused Not yet recruitingThis study will collect blood samples from 30,000 adults in the UK with various health conditions, including blood clots, infections, heart disease, diabetes, and more. The samples will be used to develop and fine-tune new diagnostic tests for the cobas® lumira device, which allo…
Sponsor: LumiraDx UK Limited • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC