Ehlers-Danlos syndrome, periodontal type 1
MONDO:0020684Mondo
Findings
No curated finding names Ehlers-Danlos syndrome, periodontal type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Pretibial plaqueHPOHP:0034517
- 24 of 25 reported patients
- Gingival fragilityHPOHP:0034518
- 20 of 21 reported patients
- Bruising susceptibilityHPOHP:0000978
- 29 of 31 reported patients
- PeriodontitisHPOHP:0000704
- 30 of 34 reported patients
- Gingival recessionHPOHP:0030816
- 29 of 33 reported patients
- Gingival bleedingHPOHP:0000225
- 24 of 28 reported patients
- Fragile skinHPOHP:0001030
- 24 of 32 reported patients
- Hyperextensible skinHPOHP:0000974
- 20 of 27 reported patients
- Joint hypermobilityHPOHP:0001382
- 11 of 24 reported patients
- Prominent superficial veinsHPOHP:0001015
- 9 of 20 reported patients
- ArthralgiaHPOHP:0002829
- 10 of 24 reported patients
- ScoliosisHPOHP:0002650
- 9 of 27 reported patients
Show the remaining 3
- Umbilical herniaHPOHP:0001537
- 2 of 20 reported patients
- Joint dislocationHPOHP:0001373
- 2 of 25 reported patients
- Hiatus herniaHPOHP:0002036
- 1 of 20 reported patients
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.
- C1RHGNC:1246
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022