Ehlers-Danlos syndrome, classic type, 2
Findings
No curated finding names Ehlers-Danlos syndrome, classic type, 2 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 COL5A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0019568), 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.
- Atrophic scarsHPOHP:0001075
- 4 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 14 of 14 reported patients
- Soft skinHPOHP:0000977
- 4 of 4 reported patients
- Molluscoid pseudotumorsHPOHP:0000993
- 12 of 14 reported patients
- Subcutaneous spheroidsHPOHP:0025014
- 12 of 14 reported patients
- Recurrent joint dislocationHPOHP:0031869
- 3 of 4 reported patients
- HemoptysisHPOHP:0002105
Show the remaining 4
- Fragile skinHPOHP:0001030
- HerniaHPOHP:0100790
- Hyperextensible skinHPOHP:0000974
- Soft, doughy skinHPOHP:0001027
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.
- COL5A2HGNC:2210
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: Ehlers-Danlos syndrome, classic type, 2
- Also called
- EDS IIEDSCL2