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Updated: Sep 8, 2025
07:07
Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
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Ciliopathy: Alström Syndrome
Stephen H Tsang1, Alicia R P Aycinena2, Tarun Sharma3
1Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.
Advances in Experimental Medicine and Biology
|July 30, 2025
Summary
Alström syndrome is a rare genetic disorder affecting multiple body systems. This condition causes vision and hearing loss, diabetes, heart problems, and liver and kidney failure.
Area of Science:
- Genetics
- Endocrinology
- Ophthalmology
- Cardiology
- Nephrology
Background:
- Alström syndrome is an autosomal recessive genetic disorder.
- Characterized by multisystemic complications affecting various organs and physiological systems.
Purpose of the Study:
- To summarize the key features and clinical manifestations of Alström syndrome.
- To highlight the genetic basis and progressive nature of the disease.
Main Methods:
- Review of existing literature on Alström syndrome.
- Analysis of reported clinical cases and genetic studies.
Main Results:
- Multisystem involvement is a hallmark of Alström syndrome.
- Key features include cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance, dilated cardiomyopathy, and progressive hepatic and renal failure.
Conclusions:
- Alström syndrome requires comprehensive management due to its widespread impact.
- Early diagnosis and multidisciplinary care are crucial for patients with Alström syndrome.
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