Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 May 21;67(2):93-99.
doi: 10.33160/yam.2024.05.010. eCollection 2024 May.

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy

Keiichi Hanaki  1   2 , Tomoe Kinoshita  2   3 , Masanobu Fujimoto  2 , Yuki Sonoyama-Kawashima  2   4 , Susumu Kanzaki  2   5 , Noriyuki Namba  2
Affiliations
Review

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy

Keiichi Hanaki et al. Yonago Acta Med. .

Abstract

Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, and hepatic and renal dysfunction, in addition to obesity. Recent insights underline the pivotal involvement of the disease-associated gene (ALMS1) in cilia formation and function, leading to the classification of its clinical manifestations as a ciliopathy. This review delineates the diverse clinical indicators defining the syndrome and elucidates its pathological underpinnings.

Keywords: Alström syndrome; ciliopathy; cone-rod dystrophy; obesity; sensorineural hearing impairment.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1.
Fig. 1.
Clinical findings of a case of Alström syndrome
See this image and copyright information in PMC

References

    1. #203800 Alström syndrome. An Online Catalog of Human Genes and Genetic Disorders [Internet]. Baltimore: Johns Hopkins University; c1966-2024 [updated 2023 Mar 10; cited 2024 Mar 12]. Available from: https://omim.org/entry/203800
    1. Alström CH,Hallgren B,Nilsson LB,Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand, Suppl. 1959;129:1-35. - PubMed
    1. Minton JAL,Owen KR,Ricketts CJ,Crabtree N,Shaikh G,Ehtisham S,et al. . Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin Endocrinol Metab. 2006;91:3110-6. 10.1210/jc.2005-2633 - DOI - PubMed
    1. Marshall JD,Maffei P,Collin GB,Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics. 2011;12:225-35. 10.2174/138920211795677912 - DOI - PMC - PubMed
    1. Bdier AY,Al-Qahtani FA,Kumar Verma P,Alshoaibi NA,Mohammed Alrayes N,Shaik NA,et al. . A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients. Arch Med Sci. 2020;100635. 10.5114/aoms.2020.100635 - DOI