Information on EDSPD1
Basic details
Name: Ehlers-Danlos syndrome, periodontal type 1 | Acronym: EDSPD1
Alt. names:
Gene: C1R | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
The condition has been described as inolving risk of arterial and gastrointestinal rupture, and awareness may allow prompt diagnosis and management; Individuals have been described as being prone to recurrent infections, and awareness may allow prompt diagnosis and management. Refs. PMIDs: 27745832
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Periodontitis |
30 (88.2%) | 0 (0.0%) | 4 (11.8%) |
| 2 | Bruising susceptibility |
29 (93.6%) | 0 (0.0%) | 2 (6.5%) |
| 3 | Gingival recession |
29 (87.9%) | 0 (0.0%) | 4 (12.1%) |
| 4 | Fragile skin |
24 (75.0%) | 0 (0.0%) | 8 (25.0%) |
| 5 | Gingival bleeding |
24 (85.7%) | 0 (0.0%) | 4 (14.3%) |
| 6 | Pretibial hyperpigmentation |
24 (96.0%) | 0 (0.0%) | 1 (4.0%) |
| 7 | Atrophic scars |
21 (58.3%) | 0 (0.0%) | 15 (41.7%) |
| 8 | Gingival fragility |
20 (95.2%) | 0 (0.0%) | 1 (4.8%) |
| 9 | Hyperextensible skin |
20 (74.1%) | 0 (0.0%) | 7 (25.9%) |
| 10 | Joint hypermobility |
11 (45.8%) | 0 (0.0%) | 13 (54.2%) |
| 11 | Arthralgia |
10 (41.7%) | 0 (0.0%) | 14 (58.3%) |
| 12 | Prominent superficial veins |
9 (45.0%) | 0 (0.0%) | 11 (55.0%) |
| 13 | Scoliosis |
9 (33.3%) | 0 (0.0%) | 18 (66.7%) |
| 14 | Joint dislocation |
2 (8.0%) | 0 (0.0%) | 23 (92.0%) |
| 15 | Umbilical hernia |
2 (10.0%) | 0 (0.0%) | 18 (90.0%) |
| 16 | Hiatus hernia |
1 (5.0%) | 0 (0.0%) | 19 (95.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.