COL1A1-related Ehlers-Danlos syndrome
MONDO:0100599Mondo
Findings
No curated finding names COL1A1-related Ehlers-Danlos syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
Definition from the Mondo Disease Ontology (MONDO:0100599), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL1A1HGNC:2197
- Definitive · ClinGen · Autosomal dominant · 2022
Where it sits
- A kind of
- Narrower terms (1)