Information on SCN4
Basic details
Name: Severe congenital neutropenia 4 | Acronym: SCN4
Alt. names:
Gene: G6PC3 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis (including with G-CSF) and early and aggressive treatment of infections may be beneficial; Awareness of other manifestations, including affecting the cardiac, endocrine, and urogenital systems may allow early diagnosis and treatment. Refs. PMIDs: 19696212; 19118303; 20799326; 20616219; 20717171; 21285905; 22050868
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 | Neutropenia |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Prominent superficial veins |
9 (75.0%) | 0 (0.0%) | 3 (25.0%) |
| 3 | Secundum atrial septal defect |
7 (58.3%) | 0 (0.0%) | 5 (41.7%) |
| 4 | Intermittent thrombocytopenia |
5 (41.7%) | 0 (0.0%) | 7 (58.3%) |
| 5 | Neonatal sepsis |
5 (41.7%) | 0 (0.0%) | 7 (58.3%) |
| 6 | Cryptorchidism |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 7 | Recurrent urinary tract infections |
4 (33.3%) | 0 (0.0%) | 8 (66.7%) |
| 8 | Hepatosplenomegaly |
3 (25.0%) | 0 (0.0%) | 9 (75.0%) |
| 9 | Microcephaly |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 10 | Perianal Abscess |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 11 | Recurrent lower respiratory tract infections |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 12 | Sensorineural hearing impairment |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 13 | Septicaemia |
2 (16.7%) | 0 (0.0%) | 10 (83.3%) |
| 14 | Cleft palate |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 15 | Cor triatriatum |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 16 | Inguinal hernia |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 17 | Mitral regurgitation |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 18 | Myopathy |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 19 | Neonatal omphalitis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 20 | Oral ulcer |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 21 | Otitis media |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 22 | Panniculitis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 23 | Patent ductus arteriosus |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 24 | Pulmonic stenosis |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 25 | Recurrent upper respiratory tract infection |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
| 26 | Urachus fistula |
1 (8.3%) | 0 (0.0%) | 11 (91.7%) |
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.