Ehlers-Danlos syndrome, classic type, 1
Findings
No curated finding names Ehlers-Danlos syndrome, classic type, 1 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 mutation in the COL5A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0019567), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 5 of 10 reported patients
- Aortic root aneurysmHPOHP:0002616
- 14 of 42 reported patients
- Recurrent sinusitisHPOHP:0011108
- 3 of 10 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 10 reported patients
- HemoptysisHPOHP:0002105
- 1 of 10 reported patients
- Bruising susceptibilityHPOHP:0000978
- Floppy infantHPOHP:0008947
Show the remaining 4
- Joint hypermobilityHPOHP:0001382
- Molluscoid pseudotumorsHPOHP:0000993
- Soft skinHPOHP:0000977
- Subcutaneous spheroidsHPOHP:0025014
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.
- COL5A1HGNC:2209
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: Ehlers-Danlos syndrome, classic type, 1
- Also called
- EDS IEDSCL1Ehlers-Danlos syndrome, type I