Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

American journal of medical genetics. Part A - 1 Jun 2015

Monroe Glen R, Harakalova Magdalena, van der Crabben Saskia N, Majoor-Krakauer Danielle, Bertoli-Avella Aida M, Moll Frans L, Oranen Björn I, Dooijes Dennis, Vink Aryan, Knoers Nine V, Maugeri Alessandra, Pals Gerard, Nijman Isaac J, van Haaften Gijs, Baas Annette F

Abstract excerpt

Different forms of Ehlers-Danlos syndrome (EDS) exist, with specific phenotypes and associated genes. Vascular EDS, caused by heterozygous mutations in the COL3A1 gene, is characterized by fragile vasculature with a high risk of catastrophic vascular events at a young age. Classic EDS, caused by heterozygous mutations in the COL5A1 or COL5A2 genes, is characterized by fragile, hyperextensible skin and joint...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Arteries

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type III

Share to Collagen Type V

Share to Ehlers-Danlos Syndrome

Share to Fatal Outcome

Share to Hemorrhage

Share to Protein Structure, Secondary

Source

Identifiers

PMID: 25845371
DOI: 10.1002/ajmg.a.36997

Genes

ACTA2
SMAD3
TGFBR1
TGFBR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.PMID 25845371Read ↗

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.Semantic proximity Read ↗

A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.Semantic proximity Read ↗

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.Semantic proximity Read ↗

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.Semantic proximity Read ↗

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.Semantic proximity Read ↗

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.Semantic proximity Read ↗

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.Semantic proximity Read ↗

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.Semantic proximity Read ↗

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.Semantic proximity Read ↗

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.Semantic proximity Read ↗

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.