X-linked diffuse leiomyomatosis-Alport syndrome
MONDO:0010641A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Also known as: Xq22.3 microdeletion syndrome, ATS-DL, Alport syndrome and diffuse leiomyomatosis, Alport syndrome with diffuse leiomyomatosis, DL-ATS, chromosome Xq22.3 centromeric deletion syndrome, diffuse leiomyomatosis in Alport syndrome, leiomyomatosis, diffuse, with Alport syndrome
17 clinical trials for this condition and its sub-types.
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Broader categories
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Sweat sensor could replace needles for kidney patients
Diagnosis CompletedThis study tested a new wearable patch that collects sweat to measure sodium and creatinine levels, which are important for monitoring kidney health and dehydration. Five adults with kidney disease wore the patch while their sweat was analyzed using a special light-based techniqu…
Phase: NA • Sponsor: Korea University • Aim: Diagnosis
Last updated Jun 27, 2026 08:11 UTC
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Scientists dig into the mysteries of x and y chromosomes
Knowledge-focused CompletedThis study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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Could a simple questionnaire unlock the secrets of Kids' eating disorders?
Knowledge-focused CompletedThis study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:04 UTC