Ehlers-Danlos syndrome, cardiac valvular type
Findings
No curated finding names Ehlers-Danlos syndrome, cardiac valvular type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
Definition from the Mondo Disease Ontology (MONDO:0009159), read 2026-09-29. CC BY 4.0.
Features
49 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.
- Abnormal heart valve morphologyHPOHP:0001654
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Mitral regurgitationHPOHP:0001653
- Very frequent (80% to 99% of cases)
- Absent phalangeal creaseHPOHP:0006109
- Frequent (30% to 79% of cases)
- Aortic regurgitationHPOHP:0001659
- Frequent (30% to 79% of cases)
- Aortic root aneurysmHPOHP:0002616
- Frequent (30% to 79% of cases)
- Atrophic scarsHPOHP:0001075
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- Frequent (30% to 79% of cases)
- Genu recurvatumHPOHP:0002816
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
Show the remaining 37
- Hallux valgusHPOHP:0001822
- Frequent (30% to 79% of cases)
- Hypermobility of distal interphalangeal jointsHPOHP:0006201
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Joint dislocationHPOHP:0001373
- Frequent (30% to 79% of cases)
- Long fingersHPOHP:0100807
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
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.
- COL1A2HGNC:2198
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: Ehlers-Danlos syndrome, cardiac valvular type
- Also called
- cardiac valvular form of autosomal recessive Ehlers-Danlos syndromecardiac valvular form of Ehlers-Danlos syndromecardiac-valvular EDScardiac-valvular Ehlers-Danlos syndromeCOL1A2-related Ehlers-Danlos syndrome, cardiac valvular typecvEDSEDS, cardiac valvular typeEDSCVEhlers-Danlos syndrome, autosomal recessive, cardiac valvular form