Ehlers-Danlos syndrome, periodontal type 2
MONDO:0014954Mondo
Findings
No curated finding names Ehlers-Danlos syndrome, periodontal type 2 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
18 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.
- Gingival recessionHPOHP:0030816
- 61 of 65 reported patients
- Gingival fragilityHPOHP:0034518
- 26 of 28 reported patients
- Bruising susceptibilityHPOHP:0000978
- 58 of 63 reported patients
- PeriodontitisHPOHP:0000704
- 75 of 83 reported patients
- Gingival bleedingHPOHP:0000225
- 51 of 58 reported patients
- Fragile skinHPOHP:0001030
- 44 of 52 reported patients
- Joint dislocationHPOHP:0001373
- 43 of 53 reported patients
- Hyperextensible skinHPOHP:0000974
- 38 of 54 reported patients
- Joint hypermobilityHPOHP:0001382
- 38 of 56 reported patients
- Pretibial plaqueHPOHP:0034517
- 50 of 76 reported patients
- Atypical scarring of skinHPOHP:0000987
- 29 of 55 reported patients
- ArthralgiaHPOHP:0002829
- 13 of 39 reported patients
Show the remaining 6
- Prominent superficial veinsHPOHP:0001015
- 14 of 42 reported patients
- ScoliosisHPOHP:0002650
- 14 of 51 reported patients
- Umbilical herniaHPOHP:0001537
- 3 of 45 reported patients
- Colon cancerHPOHP:0003003
- 2 of 36 reported patients
- NephroblastomaHPOHP:0002667
- 1 of 36 reported patients
- Inguinal herniaHPOHP:0000023
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.
- C1SHGNC:1247
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2025