ReviewJournal of clinical medicine2021
The Genetics of Hereditary Angioedema: A Review.
Review in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 2 of them syntheses that pooled it.
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.
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
64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 103 citations in OpenAlex.
- Prevalence and Incidence of Hereditary Angioedema: A Systematic Literature Review.International archives of allergy and immunology · 2026Pooled it
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Berotralstat and Health-Related Quality of Life in Hereditary Angioedema: Pooled Analysis of the APeX-2 and APeX-J Trials.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2026Trial
- Lanadelumab for prevention of attacks of non-histaminergic normal C1 inhibitor angioedema: results from the randomized, double-blind CASPIAN Study and CASPIAN open-label extension.Frontiers in immunology · 2025Trial
- Beyond Swelling: Clinical Insights into the Diagnosis and Management of Hereditary Angioedema.International journal of molecular sciences · 2026Review
- Article
- Deep Dive into Evolution: How Cetaceans Adapt Their Anticoagulant Genes for Underwater Survival.Journal of molecular evolution · 2026Article
- Garadacimab and the future of hereditary angioedema prophylaxis: a step upstream in the bradykinin pathway.Annals of medicine and surgery (2012) · 2026Article
- A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis.Orphanet journal of rare diseases · 2026Article
- Acquired Angioedema-A Challenge in Medical Practice: A Narrative Review.Journal of clinical medicine · 2026Review
- Patient Preferences for Long-Term Prophylactic Treatment in Hereditary Angioedema: A Discrete-Choice Experiment.The patient · 2026Article
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- Factor XII in Thrombosis and Thromboinflammation: From Molecular Biology to Clinical Translation.International journal of molecular sciences · 2026Review
- Developing a patient journey map to improve care and experience in Chinese patients with hereditary angioedema.The World Allergy Organization journal · 2026Article
- Sebetralstat: FDA approves first oral on-demand therapy for hereditary angioedema.Irish journal of medical science · 2026Article
- The International/Canadian hereditary angioedema guideline.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Review
- Physiological evaluation of the emotional regulation of patients with hereditary angioedema.BioPsychoSocial medicine · 2026Article
- Diagnostic delay,Frontiers in allergy · 2026Article
- Frailty in elderly with a rare genetic disease: a geriatric score analysis in C1 inhibitor Hereditary Angioedema.Frontiers in medicine · 2026Article
- Berotralstat effectiveness and safety in patients with hereditary angioedema with normal C1 inhibitor.The journal of allergy and clinical immunology. Global · 2026Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutations in SERPING1, the gene that encodes C1-INH (C1 esterase inhibitor), are responsible for the majority of cases of hereditary angioedema. C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes that are implicated in the cascades of bradykinin generation, which increases the vascular permeability and allows the flow of fluids into the extracellular space and results in angioedema. Moreover, a dominantly inherited disease has been described that has a similar clinical picture to C1-INH-HAE (Hereditary angioedema due to C1 inhibitor deficiency), but with normal C1-INH level and activity. This new type of HAE has no mutation in the SERPING1 gene and it is classified as nC1-INH-HAE (HAE with normal C1-INH). Currently mutations in six different genes have been identified as causing nC1-INH-HAE: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen 1 (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). In this review we aim to summarize the recent advances in genetic characterization of angioedema and possible future prospects in the identification of new genetic defects in HAE. We also provide an overview of diagnostic applications of genetic biomarkers using NGS technologies (
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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.