Information on SCN5
Basic details
Name: Severe congenital neutropenia 5 | Acronym: SCN5
Alt. names:
Gene: VPS45 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described with frequent and severe infections, and awareness may allow prophylactic measures (including treatment with G-CSF), as well as early and aggressive treatment of infections; HSCT has been described. Refs. PMIDs: 23599270; 23738510
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 | Anemia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Chronic diarrhea |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Nephromegaly |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Failure to thrive |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Hepatomegaly |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hypergammaglobulinaemia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Neutropenia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent infections |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Splenomegaly |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Thrombocytopenia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Extramedullary hematopoiesis |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Infantile onset |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 13 | Leukopenia |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 14 | Global developmental delay |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 15 | Neonatal onset |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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