ArticlePloS one2012
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 61 citations in OpenAlex.
- MYH9: Structure, functions, and therapeutic implications in cancer and genetic disorders.Genes & diseases · 2026Review
- Article
- The Clinical Details ofGenes · 2026Article
- Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort.Children (Basel, Switzerland) · 2025Article
- Article
- Case Report: A Chinese family with MYH9-RD caused byFrontiers in pediatrics · 2025Article
- Non-Muscle Myosin II A: Friend or Foe in Cancer?International journal of molecular sciences · 2024Review
- Review
- Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias.Journal of clinical medicine · 2021Review
- Eltrombopag to allow chemotherapy in a patient with MYH9-related inherited thrombocytopenia and pancreatic cancer.International journal of hematology · 2020Article
- Review
- Linking the Landscape ofCells · 2020Review
- Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Human mutation · 2020Article
- MYH9-related disorders display heterogeneous kidney involvement and outcome.Clinical kidney journal · 2019Article
- MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane.American journal of hematology · 2019Article
- Phenotype description and response to thrombopoietin receptor agonist inBlood advances · 2018Article
- Review
- Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2016Article
- Cochlear implantation is safe and effective in patients with MYH9-related disease.Orphanet journal of rare diseases · 2014Article
- Genetic susceptibility to idiopathic membranous nephropathy in high-prevalence Area, Taiwan.BioMedicine · 2014Article
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Authors and funding
16 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During the collection of a large case-series of patients with MYH9-RD we noticed several cases with unexplained elevation of liver enzymes. Our aim was to evaluate if the alteration of liver tests is a feature of the MYH9-RD and to define its clinical significance. METHODS AND
findingsData concerning liver tests, prospectively recorded in the Italian Registry for MYH9-RD, were collected and compared with those of three control populations: patients with autoimmune thrombocytopenia, patients with inherited thrombocytopenias other than MYH9-RD, and the participants to a large epidemiologic survey in an Italian geographic isolate. Thirty-eight of 75 evaluable MYH9-RD patients (50.7%) showed an elevation of ALT and/or AST, and 17 of 63 (27.0%) an increase of GGT. The increases ranged from 1.9 ± 0.7 to 2.7 ± 1.6 fold the upper normal limit. The prevalence of liver test alterations was significantly higher in MYH9-RD patients than in each of the control populations, with odds ratios ranging from 8.2 (95% CIs 2.2-44.8) to 24.7 (14.8-40.8). Clinical follow-up and more detailed liver studies of a subset of patients, including ultrasound liver scan, liver elastography and liver biopsy in one case, did not show any significant structural damage or evolution towards liver insufficiency.
conclusionsElevation of liver enzymes is a frequent and previously unrecognized feature of the MYH9-RD syndrome; however, this defect does not appear to have poor prognostic value.
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