Information on C6D
Basic details
Name: Complement component 6 deficiency | Acronym: C6D
Alt. names:
Gene: C6 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1995
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis (including related to specific immunization) and early and aggressive treatment of infections may be beneficial. Antiinfectious prophylaxis (including related to specific immunization strategies) and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 11344568; 11344569; 6835295; 8690922; 17257682; 17893986; 21270745; 22123893; 22288589; 22668955
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 | Decreased serum complement C6 |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Reduced hemolytic complement activity |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neisseria meningitidis infection |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
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.