Information on C5D
Basic details
Name: Complement component 5 deficiency | Acronym: C5D
Alt. names: C5 deficiency
Gene: C5 | 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
In Complement component 5 deficiency, antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Heterozygous variants have been described as resulting in poor response to eculizumab. Refs. PMIDs: 5411128; 4258194; 7730648; 21270745; 21635555; 22123893; 22668955; 23371790
Management
Description of management option has not been reviewed yet.
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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 C5 |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Neisseria meningitidis infection |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced hemolytic complement activity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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