ArticleBMC genomic data2021
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Article in BMC genomic data, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Current standards and novel concepts in thrombotic thrombocytopenic purpura.Frontiers in medicine · 2026Review
- The global prevalence and genetic spectrum of primary carnitine deficiency.BMC genomic data · 2025Article
- Estimating rare genetic disease prevalence: a challenging task.Blood advances · 2025Article
- Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.Journal of Korean medical science · 2025Article
- Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.Blood advances · 2024Article
- The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia.Orphanet journal of rare diseases · 2023Article
- NovelTranslational pediatrics · 2022Article
- Thrombotic microangiopathies: An illustrated review.Research and practice in thrombosis and haemostasis · 2022Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUpshaw-Schulman syndrome (USS) is an autosomal recessive disease characterized by thrombotic microangiopathies caused by pathogenic variants in ADAMTS13. We aimed to (1) curate the ADAMTS13 gene pathogenic variant dataset and (2) estimate the carrier frequency and genetic prevalence of USS using Genome Aggregation Database (gnomAD) data.
methodsStudies were comprehensively retrieved. All previously reported pathogenic ADAMTS13 variants were compiled and annotated with gnomAD allele frequencies. The pooled global and population-specific carrier frequencies and genetic prevalence of USS were calculated using the Hardy-Weinberg equation.
resultsWe mined reported disease-causing variants that were present in the gnomAD v2.1.1, filtered by allele frequency. The pathogenicity of variants was classified according to the American College of Medical Genetics and Genomics criteria. The genetic prevalence and carrier frequency of USS were 0.43 per 1 million (95% CI: [0.36, 0.55]) and 1.31 per 1 thousand population, respectively. When the novel pathogenic/likely pathogenic variants were included, the genetic prevalence and carrier frequency were 1.1 per 1 million (95% CI: [0.89, 1.37]) and 2.1 per 1 thousand population, respectively.
conclusionsThe genetic prevalence and carrier frequency of USS were within the ranges of previous estimates.
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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.