Information on MIRAGE
Basic details
Name: Mirage syndrome | Acronym: MIRAGE
Alt. names:
Gene: SAMD9 | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
Mirage syndrome can include anemia and thrombocytopenia requiring transfusions; Individuals can have severe and recurrent infections, and awareness may allow preventive measures and early and aggressive treatment of infections; Individuals may have salt-wasting adrenal hypoplasia, and awareness may allow prompt recognition and treatment to manage electrolyte and endocrine sequelae; For individuals with Tumoral calcinosis, surveillance/early treatment of tumoral calcinosis may reduce morbidity. Refs. PMIDs: 3366131; 15133511; 16960814; 18094730; 27182967
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 | Adrenal insufficiency |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Thrombocytopenia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neonatal onset |
10 (90.9%) | 0 (0.0%) | 1 (9.1%) |
| 4 | repeated bacterial infections |
10 (90.9%) | 0 (0.0%) | 1 (9.1%) |
| 5 | Anemia |
9 (90.0%) | 0 (0.0%) | 1 (10.0%) |
| 6 | Chronic diarrhea |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Global developmental delay |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Adrenal hypoplasia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hypospadias |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Microphallus |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Aspiration pneumonia |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 12 | Shawl scrotum |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 13 | Decreased testicular size |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 14 | Patent ductus arteriosus |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 15 | Achalasia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 16 | Cryptorchidism |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 17 | Hypergonadotropic hypogonadism |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 18 | Myelodysplasia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 19 | Paraplegia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 20 | Recurrent urinary tract infections |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 21 | Septicaemia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 22 | Talipes equinovarus |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 23 | Esophageal stricture |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 24 | Gastroesophageal reflux |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 25 | Hydrocephalus |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 26 | Spleen hypoplasia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 27 | Infantile onset |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 28 | Intracranial hemorrhage |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 29 | Leukopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 30 | Overlapping fingers |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 31 | Petechiae |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 32 | Radial club hand |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 33 | Rocker bottom foot |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 34 | Scoliosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 35 | Seizures |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
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.