ArticleMolecular genetics and metabolism reports2020
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.Pediatric nephrology (Berlin, Germany) · 2026Article
- Menkes Disease with a Novel ATP7A Variant.Indian pediatrics · 2026Article
- Prolonged survival in Menkes disease with a novelWorld journal of clinical pediatrics · 2026Article
- Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial.EClinicalMedicine · 2026Article
- Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Could excessive zinc supplementation during pregnancy cause menkes disease? A hypothesis worth investigating.Frontiers in pediatrics · 2026Review
- Article
- A primer on copper biology in the brain.Neurobiology of disease · 2025Review
- Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.Scientific reports · 2025Article
- Mammalian copper homeostasis: physiological roles and molecular mechanisms.Physiological reviews · 2025Review
- Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.NPJ genomic medicine · 2023Article
- Comparative assessment of anti-cancer drugs against NUDT15 variants to prevent leucopenia side effect in leukemia patients.Journal, genetic engineering & biotechnology · 2023Article
- Population Frequency of Undiagnosed Fabry Disease in the General Population.Kidney international reports · 2023Article
- Ethics in pre-ART genetics: a missed X-linked Menkes disease case.Journal of assisted reproduction and genetics · 2023Article
- Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.Journal of clinical medicine · 2023Article
- Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.Orphanet journal of rare diseases · 2023Article
- Menkes disease complicated by concurrent ACY1 deficiency: A case report.Frontiers in genetics · 2023Article
- The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.International journal of molecular sciences · 2022Review
- Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.Frontiers in genetics · 2022Article
- Seizures of unknown etiology associated with brittle hair: A diagnostic challenge.JAAD case reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrevious estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507. With newly available population-based allelic frequencies of DNA sequence variants, the expected birth prevalence of Menkes disease and other
methodsWe reviewed the canonical
resultsWe identified 1106 total
conclusionsAssuming Harvey-Weinberg equilibrium, the allelic frequency of deleterious
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.