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

How to order

LATEST ARTICLES

Cystic fibrosis (CF) is a life-threatening, progressive, inherited condition that causes severe damage to the body, primarily affecting the organs of...

Read more

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cogni...

Read more

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more