Information on CHAPEL
Basic details
Name: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | Acronym: CHAPEL
Alt. names: CD55 deficiency
Gene: CD55 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by
Description
For Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, individuals may manifest with features denoted by the condition name, with signs and symptoms including abdominal pain/diarrhea, intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, as well as recurrent infections; with hypogammaglobulinemia, and angiopathic thromboembolism, and medical management (eg, with terminal complement inhibitor eculizumab) has been described as beneficial on laboratory and clinical parameters; The condition can include recurrent infections, and awareness may allow preventative measures and early and aggressive treatment of infections; Blood group, Cromer system, variants associated with a blood group may be important in specific situations (eg, related to transfusion). Refs. PMIDs: 7519480; 8837357; 9427725; 21214297; 28657829; 28657861
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 | Hypogammaglobulinemia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Malabsorption |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hypoalbuminemia |
10 (90.9%) | 0 (0.0%) | 1 (9.1%) |
| 4 | Anemia |
9 (81.8%) | 0 (0.0%) | 2 (18.2%) |
| 5 | edema |
9 (81.8%) | 0 (0.0%) | 2 (18.2%) |
| 6 | Diarrhea |
8 (72.7%) | 0 (0.0%) | 3 (27.3%) |
| 7 | Growth delay |
8 (72.7%) | 0 (0.0%) | 3 (27.3%) |
| 8 | Vomiting |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 9 | Childhood onset |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 10 | Clubbing of fingers |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 11 | Intestinal lymphangiectasia |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 12 | Recurrent lower respiratory tract infections |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 13 | Abdominal pain |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 14 | Hypothyroidism |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 15 | Arthralgia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 16 | Hepatic vein thrombosis |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 17 | Infantile onset |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 18 | Juvenile onset |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 19 | Thrombocytosis |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 20 | Budd-Chiari syndrome |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
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.