image: Figure 1. Overview of the study workflow and main results. The study proceeded through four major stages. (A) Progeroid syndrome (PS) catalogue compilation: We generated a manually curated PS catalogue following a structured workflow of primary and secondary literature screening, manual data extraction, data verification and categorization, dataset expansion, gene nomenclature standardization, and clinical feature groups annotation. The final dataset includes 144 genes, associated with a total of 160 clinical entities and 18 clinical feature groups, compiled from 84 publications and the OMIM database. (B) Catalogue visualization and analysis: The curated dataset was visualized through a genome–phenome association network and further explored though network analysis to assess genetic and phenotypic heterogeneity. (C) Protein–protein interaction (PPI) network analyses and functional characterization: The compiled gene set was analyzed through PPI network construction, functional enrichment of biological processes and pathways, and prioritization of highly connected hub genes, followed by cross-referencing with the Open Genes database. (D) Case example – LMNA gene: To illustrate single-gene pleiotropy, LMNA-associated diseases and their clinical feature groups were summarized in a dedicated table and a gene–phenotype network.
Credit: Copyright: © 2026 Likar and Kunej. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
“Progeroid syndromes (PS) are a heterogeneous group of rare hereditary disorders with features resembling premature aging.”
BUFFALO, NY — April 15, 2026 — A new research paper was published in Volume 18 of Aging-US on March 30, 2026, titled “A manually curated gene–phenotype catalogue for progeroid syndromes and premature aging.”
The study was led by Nuša Likar and Tanja Kunej from the University of Ljubljana, Slovenia. The researchers developed a comprehensive, manually curated catalogue integrating data from 84 scientific publications and the OMIM database. The resulting resource systematically organizes genetic and clinical information on progeroid syndromes, linking 144 genes to 56 syndromes and 160 distinct clinical entities, making it one of the most extensive datasets in this field to date.
Using genome–phenome association analysis and protein–protein interaction networks, the study reveals the complex genetic and phenotypic heterogeneity underlying premature aging disorders. The findings highlight strong enrichment in genome maintenance and DNA repair pathways, reinforcing their central role in aging biology.
The catalogue also demonstrates how single genes, such as LMNA, can be associated with multiple syndromes, illustrating the pleiotropic nature of genetic variants in progeroid conditions and their broader relevance to human aging mechanisms.
“Overall, this study provides a reference resource and framework to support future research into premature aging syndromes and their broader implications for understanding physiological aging.”
Overall, the authors present a valuable framework for improving the classification, diagnosis, and study of rare premature aging disorders. Their work not only advances understanding of progeroid syndromes but also offers important insights into the biological processes that drive normal human aging.
Paper DOI: https://doi.org/10.18632/aging.206366
Corresponding author: Tanja Kunej – tanja.kunej@bf.uni-lj.si
Keywords: aging, premature aging, progeroid syndromes, DNA repair, LMNA gene
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Journal
Aging-US
Method of Research
News article
Subject of Research
Not applicable
Article Title
A manually curated gene–phenotype catalogue for progeroid syndromes and premature aging
Article Publication Date
30-Mar-2026
COI Statement
The authors declare no conflicts of interest related to this study.