Information on Nephropathy due to CFHR5 deficiency
Basic details
Name: Nephropathy due to CFHR5 deficiency | Acronym:
Alt. names: C3 glomerulopathy-3
Gene: CFHR5 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2010
Last updated on: 2023-02-28 16:41:18 by
Description
Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. Refs. PMIDs: 20800271; 22503529
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 | Microscopic hematuria |
22 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Renal insufficiency |
15 (53.6%) | 0 (0.0%) | 13 (46.4%) |
| 3 | Glomerular C3 deposition |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Glomerular subendothelial electron-dense deposits |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Mesangial hypercellularity |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 6 | Mesangial matrix expansion |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 7 | Thickening of glomerular capillary wall |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
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.