Information on SCN9
Basic details
Name: Severe congenital neutropenia 9 | Acronym: SCN9
Alt. names: Neutropenia, severe congenital, 9, autosomal dominant
Gene: CLPB | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2022
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by onset of neutropenia in the first years of life. Most patients have recurrent infections; bone marrow examination shows a myeloid maturation arrest. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts, which are more commonly observed in patients with MGCA7 (616271). However, patients with SCN9 do not have 3-methylglutaconic aciduria, and most have normal neurologic function (Warren et al., 2022).[OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
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 | Myeloid maturation arrest |
10 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
5 (50.0%) | 0 (0.0%) | 5 (50.0%) |
| 3 | Childhood onset |
4 (40.0%) | 0 (0.0%) | 6 (60.0%) |
| 4 | Cataract |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 5 | Seizures |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 6 | Splenomegaly |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 7 | Congenital onset |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 8 | Global developmental delay |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 9 | 3-Methylglutaconic aciduria |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.