Article

Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis

2025-09-21

Abstract excerpt

<h4>Background</h4> Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common subtype of EDS, a group of heritable connective tissue disorders. Clinically, hEDS is defined by generalized joint hypermobility and chronic musculoskeletal pain, but its impact extends beyond the musculoskeletal system. Affected individuals frequently experience autonomic, gastrointestinal, immune, and neuropsychiatric involvement,...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6c5e03ef-5bf0-5dd3-ba62-8c1447175470
DOI: 10.1101/2025.09.19.25336146

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysisDOI 10.1101/2025.09.19.25336146Read

Multi-System Genetic Architecture of Hypermobile Ehlers-Danlos Syndrome: Integrating Machine Learning with Subject-Level Genomic Analysis.Semantic proximity Read

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeSemantic proximity Read

Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.Semantic proximity Read

Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos SyndromeSemantic proximity Read

Defining Neuro-EDS: A Neuro-Predominant Phenotype in hEDS/HSD and Related Heritable Connective Tissue DisordersSemantic proximity Read

The 2017 international classification of the Ehlers-Danlos syndromes.Semantic proximity Read

A gene network implicated in the joint-muscle pain, brain fog, chronic fatigue, and bowel irregularity of Ehlers-Danlos and “long” COVID19 syndromesSemantic proximity Read

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.Semantic proximity Read

A review of Ehlers-Danlos syndrome.Semantic proximity Read

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.Semantic proximity Read

The Many Facets of Hypermobile Ehlers-Danlos SyndromeSemantic proximity Read

Phenotypic Clusters and Multimorbidity in Hypermobile Ehlers-Danlos SyndromeSemantic proximity Read