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We performed a systematic literature review by querying the MEDLINE and Embase databases identifying 143 relevant papers. We recorded data on the phenotype and genotype in 162 individuals with a molecularly confirmed <jats:italic>ATP7A<\/jats:italic>\u2010related disorder in order to identify differentiating clinical criteria, evaluate genotype\u2010phenotype correlations and propose management guidelines.<\/jats:p><jats:p>Early seizures are specific for classical Menkes disease (CMD), that is characterized by early\u2010onset neurodegenerative disease with high mortality rates. Ataxia is an independent indicator for atypical Menkes disease, that shows better survival rates than CMD. Bony exostoses, radial head dislocations, herniations and dental abnormalities are specific for occipital horn syndrome (OHS) that may further present with developmental delay and connective tissue manifestations. Intracranial tortuosity and bladder diverticula, both with high risk of complications, are common among all subtypes. Low ceruloplasmin is a more sensitive and discriminating biomarker for <jats:italic>ATP7A<\/jats:italic>\u2010related disorders than serum copper. Truncating mutations are frequently associated with CMD, in contrast with splice site and intronic mutations which are more prevalent in OHS.<\/jats:p>","DOI":"10.1002\/jimd.12590","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T14:08:13Z","timestamp":1674569293000},"page":"163-173","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["<scp><i>ATP7A<\/i><\/scp>\u2010related copper transport disorders: A systematic review and definition of the clinical subtypes"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7343-0533","authenticated-orcid":false,"given":"S.","family":"De Feyter","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital  Ghent Belgium"},{"name":"Department of Biomolecular Medicine Ghent University  Ghent Belgium"},{"name":"Department of Dermatology Ghent University Hospital  Ghent 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