Information on aHUS5
Name: Hemolytic uremic syndrome, atypical, susceptibility to, 5 | Acronym: aHUS5
Alt. names: C3 GOF
Gene: C3 | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2008
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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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased serum complement C3 |
14 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Stage 5 chronic kidney disease |
8 (57.1%) | 0 (0.0%) | 6 (42.9%) |
| 3 | Adult onset |
7 (50.0%) | 0 (0.0%) | 7 (50.0%) |
| 4 | Childhood onset |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 5 | Infantile onset |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 6 | Juvenile onset |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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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).