Information on SGMRT2
Basic details
Name: Singleton-Merten syndrome 2 | Acronym: SGMRT2
Alt. names: SMS2
Gene: RIGI | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
An atypical form of Singleton-Merten syndrome (SMS), which is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies. However, specific autoimmune manifestations or IgA deficiency were not reported in the first identified patients, only psoriasiform rashes in 7/11 cases (PMID: 25620203). Functional analyses showed that DDX58 variants confer constitutive activation and thus lead to increased interferon (IFN) activity and IFN-stimulated gene expression (PMID: 25620203)
Management
Among other manifestations, the condition can include cardiovascular calcifications, and awareness may allow early management (eg, surgical valvuloplasty has been described). Awareness of the risk of glaucoma can allow surveillance, prompt awareness and treatment.
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 | Glaucoma |
10 (90.9%) | 0 (0.0%) | 1 (9.1%) |
| 2 | Osteolytic defects of the phalanges of the hand |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Psoriasiform lesion |
7 (63.6%) | 0 (0.0%) | 4 (36.4%) |
| 4 | Aortic valve calcification |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 5 | Childhood onset |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 6 | Juvenile onset |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 7 | short stature |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 8 | Young adult onset |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 9 | Aortic valve stenosis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 10 | Hyperkeratosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Joint subluxation |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 12 | Osteopenia |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 13 | Abnormality of the dentition |
0 (0.0%) | 0 (0.0%) | 11 (99.9%) |
| 14 | Arrhythmia |
0 (0.0%) | 0 (0.0%) | 11 (99.9%) |
| 15 | Scoliosis |
0 (0.0%) | 0 (0.0%) | 11 (99.9%) |
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.