Alstrom Syndrome (ALMS1)

Alstrom syndrome is a pan-ethnic, autosomal recessive disorder caused by pathogenic variants in the gene ALMS1. Clinical features include short stature and obesity, progressive vision and hearing loss, and chronic inflammation of the liver and kidney, leading to more severe disease. Patients also have spinal abnormalities and endocrine disorders, including insulin-resistant diabetes, hypothyroidism, growth hormone deficiency and sex hormone disorders. While some developmental delay is present, patients are not intellectually disabled. Organ dysfunction may result in early death, and most patients do not live past the age of 50. It is not currently possible to predict the severity of the disease based on the genotype.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):