Information on RFMN
Basic details
Name: Roifman syndrome | Acronym: RFMN
Alt. names:
Gene: RNU4ATAC | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by
Description
Among other features, individuals with Roifman syndrome have been described with antibody deficiency and recurrent and severe infections, and awareness may allow preventive measures and early and aggressive treatment of infections. Refs. PMIDs: 934161; 984702; 9800907; 10189087; 12571786; 21474760; 21474761; 22581640; 25735804; 26522830; 29265708; 30368667
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 | Anteverted nares |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Intrauterine growth retardation |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Long philtrum |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Narrow nose |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Postnatal growth retardation |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Short digit |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Short metacarpal |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Thin upper lip vermilion |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Global developmental delay |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 10 | Muscular hypotonia |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 11 | Microcephaly |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 12 | Single transverse palmar crease |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 13 | Clinodactyly of the 5th finger |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 14 | Eczema |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 15 | Retinal dystrophy |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 16 | Noncompaction cardiomyopathy |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 17 | Ventricular septal defect |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
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.