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Article

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

Human mutation - 1 Jun 2005

Schulte Claudia, Geisthoff Urban, Lux Andreas, Kupka Susan, Zenner Hans-Peter, Blin Nikolaus, Pfister Markus

Abstract excerpt

Morbus Osler or HHT (hereditary hemorrhagic telangiectasia) is a disorder of the fibrovascular tissue that is inherited in an autosomal dominant way with frequency rates between 1:2,500 and 1:40,000. The disease provokes malformations of the blood vessels sometimes resulting in life-threatening complications. Presently, two genes involved in the development of HHT have been identified: ACVRL1 and ENG. Both of...

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Source

Identifiers

PMID: 15880681
DOI: 10.1002/humu.9345

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.PMID 15880681Read ↗

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.Semantic proximity Read ↗

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.Semantic proximity Read ↗

Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.Semantic proximity Read ↗

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

[Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.Semantic proximity Read ↗

Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University HospitalSemantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new eraSemantic proximity Read ↗

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.Semantic proximity Read ↗

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