ReviewEndocrine2021
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.
Review in Endocrine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic determinants of obesity: mechanisms, clinical implications, and targeted therapies.Endocrine · 2026Review
- Primary Cilia as Integrative Hubs of Metabolic Signaling in Type 2 Diabetes: Inter-Organ Evidence From Central, Peripheral, and Pancreatic Islet Tissues.Journal of cellular physiology · 2026Review
- Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.Obesity (Silver Spring, Md.) · 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
- Transitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives.Endocrine connections · 2025Review
- Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.Diabetology & metabolic syndrome · 2025Article
- Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.Translational vision science & technology · 2025Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Effect ofWorld journal of diabetes · 2025Article
- Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?GeroScience · 2024Article
- Discriminating insulin resistance in middle-aged nondiabetic women using machine learning approaches.AIMS public health · 2024Article
- Skin manifestations in rare types of diabetes and other endocrine conditions.Endocrine connections · 2023Review
- Ciliopathies in pediatric endocrinology.Annals of pediatric endocrinology & metabolism · 2023Article
- Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.Case reports in ophthalmological medicine · 2023Article
- Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.Frontiers in genetics · 2023Article
- Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.Diabetologia · 2022Review
- Palmitic acid control of ciliogenesis modulates insulin signaling in hypothalamic neurons through an autophagy-dependent mechanism.Cell death & disease · 2022Article
- Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.NPJ genomic medicine · 2022Article
- A novel variant site of Alstrom syndrome in a Chinese child: a case report.Translational pediatrics · 2022Article
- Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report.World journal of clinical cases · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and encodes a predicted 461.2-kDa protein of 4169 amino acids. The infantile cone-rod dystrophy with nystagmus and severe visual impairment is the earliest and most consistent clinical manifestation of ALMS. In addition, infantile transient cardiomyopathy, early childhood obesity with hyperphagia, deafness, insulin resistance (IR), type 2 diabetes mellitus (T2DM), systemic fibrosis and progressive renal or liver dysfunction are common findings. ALMS1 encodes a large ubiquitously expressed protein that is associated with the centrosome and the basal body of primary cilium. CURRENT RESEARCH: The localisation of ALMS1 to the ciliary basal body suggests its contribution to ciliogenesis and/or normal ciliary function, or centriolar stability. ALMS1 regulate glucose transport through the actin cytoskeleton, which plays an important role in insulin-stimulated GLUT4 transport. Both extreme IR and β-cell failure are the two determinant factors responsible for the development of glucose metabolism alterations in ALMS. TREATMENT: Currently, there is no known cure for ALMS other than managing the underlying systemic diseases. When possible, individuals with ALMS and families should be referred to a centre of expertise and followed by a multidisciplinary team. Lifestyle modification, aerobic exercise and dietary induced weight loss are highly recommended as primary treatment for ALMS patients with T2DM and obesity.
conclusionManaging a rare disease requires not only medical care but also a support network including patient associations.
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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 Socratic graph.