ArticleJournal of medical genetics2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed.
- Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.Scientific reports · 2021Trial
- Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease.Orphanet journal of rare diseases · 2026Article
- Multimodal phenotypic clustering predicts cardiac outcomes in Fabry disease.Orphanet journal of rare diseases · 2026Article
- Early mitophagy defects and impaired mitochondrial energy metabolism drive target organ damage progression: lessons from the Fabry heart.bioRxiv : the preprint server for biology · 2026Article
- A New Class of Pathogenic Non-Coding Variants in GLA.International journal of molecular sciences · 2026Article
- Case Report: Fabry cardiomyopathy associated with a novel truncatingFrontiers in medicine · 2026Article
- Rationale, Objectives and Study Design of the Taiwan Registry of Hypertrophic Cardiomyopathy (THIC).Acta Cardiologica Sinica · 2026Article
- Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.Renal failure · 2025Article
- Recommended methods for the collection of clinical expert judgment in rare diseases: Generating evidence to support reimbursement of orphan drugs.International journal of technology assessment in health care · 2025Article
- Article
- Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.Molecular genetics and metabolism reports · 2025Article
- Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.Orphanet journal of rare diseases · 2025Review
- Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.Journal of the American Society of Nephrology : JASN · 2025Article
- Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.International journal of molecular sciences · 2025Article
- Review
- Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.JIMD reports · 2025Article
- Review
- Glycosphingolipids and their impact on platelet activity in a murine model of fabry disease.Scientific reports · 2024Article
- In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates.International journal of molecular sciences · 2024Article
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (α-galactosidase deficiency) is an X-linked genetic disease caused by a variety of pathogenic
methodsA Fabry disease genotype-phenotype workgroup developed a five-stage iterative system based on expert clinical assessment, published literature and clinical evidence of pathogenicity using a 2-point scoring system based on clinical hallmarks of classic disease. Kaplan-Meier (KM) analysis of severe clinical event-free survival was used as final validation. Results were compared with those from web-based disease databases and in silico pathogenicity prediction programmes.
resultsFinal consensus on classifications of 'pathogenic' was achieved for 32 of 33
conclusionThe iterative system implemented by a Fabry disease genotype-phenotype workgroup achieved phenotypic classifications for variants that were previously unclassified. Clinical pathogenicity associated with a particular
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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 OpenQuestion graph.