Information on EDSPD2
Basic details
Name: Ehlers-Danlos syndrome, periodontal type 2 | Acronym: EDSPD2
Alt. names: C1s Periodontal Ehlers-Danlos
Gene: C1S | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
Ehlers-Danlos syndrome, periodontal type has been described as inolving risk of arterial and gastrointestinal rupture as well as recurrent infections, and awareness may allow prompt diagnosis and management; Individuals with Ehlers-Danlos syndrome, periodontal have been described with Wilms tumor (as well as other types of neoplasms), and awareness may allow early detection and treatment; Individuals with Complement component C1s deficiency may suffer from conditions such as severe infections, for which prophylaxis and/or early and aggressive treatment of infection may be beneficial; Immunosuppression may be beneficial for autoimmune phenomena (such as lupus nephritis). Refs. PMIDs: 9856483; 9973493; 11390518; 19155518; 20191570; 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 |
75 (90.4%) | 0 (0.0%) | 8 (9.6%) |
| 2 | Gingival recession |
61 (93.9%) | 0 (0.0%) | 4 (6.2%) |
| 3 | Bruising susceptibility |
58 (92.1%) | 0 (0.0%) | 5 (7.9%) |
| 4 | Gingival bleeding |
51 (87.9%) | 0 (0.0%) | 7 (12.1%) |
| 5 | Pretibial hyperpigmentation |
50 (65.8%) | 0 (0.0%) | 26 (34.2%) |
| 6 | Fragile skin |
44 (84.6%) | 0 (0.0%) | 8 (15.4%) |
| 7 | Joint dislocation |
43 (81.1%) | 0 (0.0%) | 10 (18.9%) |
| 8 | Hyperextensible skin |
38 (70.4%) | 0 (0.0%) | 16 (29.6%) |
| 9 | Joint hypermobility |
38 (67.9%) | 0 (0.0%) | 18 (32.1%) |
| 10 | Atypical scarring of skin |
29 (52.7%) | 0 (0.0%) | 26 (47.3%) |
| 11 | Gingival fragility |
26 (92.9%) | 0 (0.0%) | 2 (7.1%) |
| 12 | Prominent superficial veins |
14 (33.3%) | 0 (0.0%) | 28 (66.7%) |
| 13 | Scoliosis |
14 (27.5%) | 0 (0.0%) | 37 (72.6%) |
| 14 | Arthralgia |
13 (33.3%) | 0 (0.0%) | 26 (66.7%) |
| 15 | Umbilical hernia |
3 (6.7%) | 0 (0.0%) | 42 (93.3%) |
| 16 | Colon cancer |
2 (5.6%) | 0 (0.0%) | 34 (94.4%) |
| 17 | Nephroblastoma |
1 (2.8%) | 0 (0.0%) | 35 (97.2%) |
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.