SCIENTIFIC BACKGROUND

ALMS1

Category:

Scientific Background

Alström syndrome is a rare autosomal recessive disorder with similarities to Bardet-Biedl syndrome. Its prevalence is estimated to be approximately 1:1,000,000 in Europe and North America.

 

Alström syndrome is a rare multisystem disorder characterized by, among other things, cone-rod dystrophy, sensorineural hearing loss, progressive renal and hepatic dysfunction, insulin resistance and hyperinsulinemia, obesity, and dilated cardiomyopathy. Other findings may include endocrine and urologic disorders, hypertension, and chronic respiratory disease. Delays in early developmental milestones (most commonly in gross and fine motor skills) and learning disabilities have been described in some cases. In general, wide clinical variability is observed, even within the same family.

 

Alström syndrome is caused by pathogenic variants in the ALMS1 gene. The ALMS1 gene encodes the Alström syndrome protein 1, which is involved in microtubule organization and cilia formation and maintenance.

 

The rarity and complexity of Alström syndrome often lead to misdiagnosis or very delayed diagnosis in affected individuals. Currently, there is no causal therapy to prevent the progressive organ dysfunction, but early diagnosis is important to slow progression and improve patients' life expectancy and quality of life."

 

References

Choudhury et al. 2021, Intractable Rare Dis Res 10:257 / Littleton et al. 2020, Mol Diagn Ther 24:653 / Tsang et al. 2018, Adv Exp Med Biol 1085:179 / Marshall et al. 2015, Hum Mutat 36:660 / Paisey et al. 2003, GeneReviews, University of Washington, Seattle [updated 2019 Jun 13]

GENES

ALMS1

ASSOCIATED TESTS

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