Information on C3D
Basic details
Name: Complement component 3 deficiency | Acronym: C3D
Alt. names: C3 deficiency
Gene: C3 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 1990
Last updated on: 2023-02-28 16:41:18 by
Description
In Complement component 3 deficiency, individuals may manifest with frequent infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Individuals may develop renal disease, and awareness may allow early management of renal sequelaentiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; In hemolytic-uremic syndrome, the choice of specific treatment modalities (eg, danazol, plasma exchange, plasma therapy), as well as decision to perform renal transplant, may be dictated by genetic diagnosis, and certain agents/precipitating factors should be avoided (eg, certain medications). Refs. PMIDs: 4117597; 1976733; 1350678; 1575793; 15781264; 18796626; 19846853; 20807612; 20595690; 22410797
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 C3 |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Recurrent pneumonia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | repeated bacterial infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Recurrent fevers |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent tonsillitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Systemic lupus erythematosus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Membranoproliferative glomerulonephritis |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
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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.