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Alström syndrome is a rare condition that affects many body systems. Signs and symptoms of this condition begin in infancy or early childhood. Alström syndrome is characterized by a progressive loss of vision and hearing, enlargement of the heart and weakening of the heart muscle (cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. This disorder can also affect the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, and affected individuals may not have all of the characteristic features of the disorder.
This condition is rare; only about 425 people worldwide are known to be affected.
Mutations in the ALMS1 gene cause Alström syndrome.
The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissues, so a loss of the protein's normal function may help explain why the signs and symptoms of Alström syndrome affect a variety of body systems.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.