ArticleOrphanet journal of rare diseases2020
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05550376 (Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia), which is not on this map. Cited by 26 papers.
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Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia (HHT)
Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- Systematic mapping of rare genetic disease studies using UK primary care electronic health records.European journal of human genetics : EJHG · 2026Review
- Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.Journal of neurology · 2026Article
- Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.European journal of human genetics : EJHG · 2026Article
- Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care.Orphanet journal of rare diseases · 2025Article
- Genotype-Phenotype Relationship in Hereditary Hemorrhagic Telangiectasia: Quality of Life and Cardiovascular Risk Evaluation.Journal of clinical medicine · 2025Article
- Hemoptysis caused by hereditary hemorrhagic telangiectasia: A case report and literature review.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Review
- Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations.Orphanet journal of rare diseases · 2024Observational
- Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.Journal of clinical medicine · 2023Article
- Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia.Journal of clinical medicine · 2023Article
- Hereditary hemorrhagic telangiectasia involving portal venous system: A case report and review of the literature.World journal of gastrointestinal surgery · 2023Article
- Aflibercept for Gastrointestinal Bleeding in Hereditary Hemorrhagic Telangiectasia: A Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- Current guidelines for diagnosis and management of hepatic involvement in hereditary hemorrhagic teleangiectasia.World journal of hepatology · 2023Review
- Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.Molecular genetics & genomic medicine · 2023Article
- Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.Genes · 2023Article
- The Potential Role of MiRs-139-5p and -454-3p in Endoglin-Knockdown-Induced Angiogenic Dysfunction in HUVECs.International journal of molecular sciences · 2023Article
- Perioperative Complications and Long-Term Follow-Up of Liver Transplantation in Hemorrhagic Hereditary Telangiectasia: Report of Three Cases and Systematic Review.Journal of clinical medicine · 2022Review
- Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management.Journal of clinical medicine · 2022Review
- Distribution of Cerebrovascular Phenotypes According to Variants of theJournal of clinical medicine · 2022Article
- Article
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13 authors at 10 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis.
methodsWe used data from the RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) registry to describe genetic variants and to assess their genotype-phenotype correlation among HHT patients in Spain.
resultsBy May 2019, 215 patients were included in the RiHHTa registry with a mean age of 52.5 ± 16.5 years and 136 (63.3%) were women. Definitive HHT diagnosis defined by the Curaçao criteria were met by 172 (80%) patients. Among 113 patients with genetic test, 77 (68.1%) showed a genetic variant in ACVRL1 and 36 (31.8%) in ENG gene. The identified genetic variants in ACVRL1 and ENG genes and their clinical significance are provided. ACVRL1 mutations were more frequently nonsense (50%) while ENG mutations were more frequently, frameshift (39.1%). ENG patients were significantly younger at diagnosis (36.9 vs 45.7 years) and had pulmonary arteriovenous malformations (AVMs) (71.4% vs 24.4%) and cerebral AVMs (17.6% vs 2%) more often than patients with ACVRL1 variants. Patients with ACVRL1 variants had a higher cardiac index (2.62 vs 3.46), higher levels of hepatic functional blood tests, and anemia (28.5% vs 56.7%) more often than ENG patients.
conclusionsACVRL1 variants are more frequent than ENG in Spain. ACVRL1 patients developed symptomatic liver disease and anemia more often than ENG patients. Compared to ACVRL1, those with ENG variants are younger at diagnosis and show pulmonary and cerebral AVMs more frequently.
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