ArticleCurrent genomics2011
Alström syndrome: genetics and clinical overview.
Article in Current genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 162 papers, 2 of them syntheses that pooled it.
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Who cites it
162 citing papers in PubMed, 2 syntheses or guidelines pooled it, 265 citations in OpenAlex.
- Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.Journal of medical genetics · 2023Pooled it
- Consensus clinical management guidelines for Alström syndrome.Orphanet journal of rare diseases · 2020Pooled it
- Exome Sequencing in Patients with Loin Pain Hematuria Syndrome and Persistent Isolated Hematuria.Kidney international reports · 2026Article
- Epithelial-mesenchymal Wnt crosstalk directs planar cell polarity in the developing cochlea.Nature communications · 2026Article
- Genetic determinants of obesity: mechanisms, clinical implications, and targeted therapies.Endocrine · 2026Review
- Type 1 Diabetes Mellitus in a Child With Genetically Confirmed Alström Syndrome: An Unusual Autoimmune Phenotype.Cureus · 2026Article
- Epithelial-Mesenchymal Wnt Crosstalk Directs Planar Cell Polarity in the Developing Cochlea.bioRxiv : the preprint server for biology · 2026Article
- Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension.Acta physiologica (Oxford, England) · 2026Article
- Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report.Cureus · 2026Article
- MELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge.Journal of clinical medicine · 2026Article
- Neonatal-onset dilated cardiomyopathy as the initial manifestation of Alström syndrome: a case report.Frontiers in pediatrics · 2026Article
- Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.Computational and structural biotechnology journal · 2026Article
- A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients.Archives of medical science : AMS · 2026Article
- Case Report: Identification of two novelFrontiers in genetics · 2026Article
- Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.Orphanet journal of rare diseases · 2025Article
- Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.The Journal of clinical endocrinology and metabolism · 2025Observational
- Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models.Scientific reports · 2025Article
- Cloud-Based Personalized sEMG Classification Using Lightweight CNNs for Long-Term Haptic Communication in Deaf-Blind Individuals.Bioengineering (Basel, Switzerland) · 2025Article
- Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.Microorganisms · 2025Article
- Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.Molecular genetics & genomic medicine · 2025Article
102 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinical symptoms, even within families, is likely due to genetic background.Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4,169 amino acids. In general, ALMS1 gene defects include insertions, deletions, and nonsense mutations leading to protein truncations and found primarily in exons 8, 10 and 16. Multiple alternate splice forms exist. ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease. The identification of ALMS1 as a ciliary protein explains the range of observed phenotypes and their similarity to those of other ciliopathies such as Bardet-Biedl syndrome.Studies involving murine and cellular models of Alström syndrome have provided insight into the pathogenic mechanisms underlying obesity and type 2 diabetes, and other clinical problems. Ultimately, research into the pathogenesis of Alström syndrome should lead to better management and treatments for individuals, and have potentially important ramifications for other rare ciliopathies, as well as more common causes of obesity and diabetes, and other conditions common in the general population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.