{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["91(13-S)"],"submitter":["Naureen Z"],"pubmed_abstract":["<h4>Background and aim of the work</h4>Pain is defined by the International Association for the Study of Pain as \"an unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage\". In this mini-review, we focused on the Mendelian disorders with chronic pain as the main characteristic or where pain perception is disrupted, and on the polymorphisms that can impart susceptibility to chronic pain.<h4>Methods</h4>We searched PubMed and Online Mendelian Inheritance in Man (OMIM) databases and selected only syndromes in which pain or insensitivity to pain were among the main characteristics. Polymorphisms were selected from the database GWAS catalog (https://www.ebi.ac.uk/gwas/home).<h4>Results</h4>We retrieved a total of 28 ge"],"journal":["Acta bio-medica : Atenei Parmensis"],"pagination":["e2020010"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8023138"],"repository":["biostudies-literature"],"pubmed_title":["Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain."],"pmcid":["PMC8023138"],"pubmed_authors":["Marceddu G","Bertelli M","Naureen Z","Manganotti P","Caruso P","Mazzon G","Cecchin S","Lorusso L"],"additional_accession":[]},"is_claimable":false,"name":"Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain.","description":"<h4>Background and aim of the work</h4>Pain is defined by the International Association for the Study of Pain as \"an unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage\". In this mini-review, we focused on the Mendelian disorders with chronic pain as the main characteristic or where pain perception is disrupted, and on the polymorphisms that can impart susceptibility to chronic pain.<h4>Methods</h4>We searched PubMed and Online Mendelian Inheritance in Man (OMIM) databases and selected only syndromes in which pain or insensitivity to pain were among the main characteristics. Polymorphisms were selected from the database GWAS catalog (https://www.ebi.ac.uk/gwas/home).<h4>Results</h4>We retrieved a total of 28 ge","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2025-04-04T08:26:18.436Z","creation":"2022-02-09T14:37:16.666Z"},"accession":"S-EPMC8023138","cross_references":{"pubmed":["33170156"],"doi":["10.23750/abm.v91i13-S.10682"]}}