ArticleJournal of medical genetics2006
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 4 of them syntheses that pooled it.
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Who cites it
104 citing papers in PubMed, 4 syntheses or guidelines pooled it, 287 citations in OpenAlex.
- Embolisation for pulmonary arteriovenous malformation.The Cochrane database of systematic reviews · 2018Pooled it
- Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.Digestive diseases and sciences · 2017Pooled it
- Vascular disorders of the liver.Hepatology (Baltimore, Md.) · 2009Guideline
- Familial occurrence of brain arteriovenous malformations: a systematic review.Journal of neurology, neurosurgery, and psychiatry · 2007Pooled it
- Unanticipated Hypoxemia in Late Pregnancy Revealing Hereditary Hemorrhagic Telangiectasia.Internal medicine (Tokyo, Japan) · 2026Article
- Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia.bioRxiv : the preprint server for biology · 2026Article
- Family planning, sexual activity and contraception in hereditary hemorrhagic telangiectasia: a European survey study.Orphanet journal of rare diseases · 2025Article
- Pediatric Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: Screening, Diagnosis, and Management.Journal of clinical medicine · 2025Review
- From bench to bedside: murine models of inherited and sporadic brain arteriovenous malformations.Angiogenesis · 2025Review
- Hereditary haemorrhagic telangiectasia.Nature reviews. Disease primers · 2025Review
- Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.European journal of human genetics : EJHG · 2024Article
- Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.Journal of clinical medicine · 2023Article
- Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: Long-term results of endoscopic treatment.Endoscopy international open · 2023Article
- Sex-biased TGFβ signalling in pulmonary arterial hypertension.Cardiovascular research · 2023Review
- Article
- Current guidelines for diagnosis and management of hepatic involvement in hereditary hemorrhagic teleangiectasia.World journal of hepatology · 2023Review
- Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish.Disease models & mechanisms · 2023Article
- An analysis of sex differences in pulmonary arteriovenous malformation presentation, complications and management in a large, multinational registry of patients with hereditary haemorrhagic telangiectasia.ERJ open research · 2023Article
- Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.Journal of clinical medicine · 2023Article
- An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).International ophthalmology · 2022Review
44 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by vascular malformations in multiple organ systems, resulting in mucocutaneous telangiectases and arteriovenous malformations predominantly in the lungs (pulmonary arteriovenous malformation; PAVM), brain (cerebral arteriovenous malformation; CAVM), and liver (hepatic arteriovenous malformation; HAVM). Mutations in the ENG and ALK-1 genes lead to HHT1 and HHT2 respectively. In this study, a genotype-phenotype analysis was performed. A uniform and well classified large group of HHT patients and their family members were screened for HHT manifestations. Groups of patients with a clinically confirmed diagnosis and/or genetically established diagnosis (HHT1 or HHT2) were compared. The frequency of PAVM, CAVM, HAVM, and gastrointestinal telangiectases were determined to establish the genotype-phenotype relationship. The analysis revealed differences between HHT1 and HHT2 and within HHT1 and HHT2 between men and women. PAVMs and CAVMs occur more often in HHT1, whereas HAVMs are more frequent in HHT2. Furthermore, there is a higher prevalence of PAVM in women compared with men in HHT1. In HHT1 and HHT2, there is a higher frequency of HAVM in women. HHT1 has a distinct, more severe phenotype than HHT2. There is a difference in the presence of symptoms between men and women. With these data, genetic counselling can be given more accurately when the family mutation is known.
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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.