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Article

Clinical Variability of Classical Ehlers-Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review.

International journal of molecular sciences - 7 Sept 2026

Akhiiarova Karina E, Loginova Ekaterina N, Kildiyarova Rita R, Khusainova Rita I, Tyurin Anton V

Abstract excerpt

Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of inherited connective tissue disorders. The 2017 International Classification of EDS delineates 13 subtypes, which are caused by pathogenic variants in 19 distinct genes encoding various collagen types or proteins involved in collagen metabolism. EDS is characterized by considerable clinical variability, both across EDS subtypes and in terms of...

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Topics

Adult
Female
Humans
Male
Collagen Type V
Ehlers-Danlos Syndrome
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Pedigree

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42737849
DOI: 10.3390/ijms27177952
PMCID: PMC13566190

Genes

COL5A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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