Information on Cerebroretinal microangiopathy with calcifications and cysts 2
Basic details
Name: Cerebroretinal microangiopathy with calcifications and cysts 2 | Acronym:
Alt. names:
Gene: STN1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
Among other features, individuals have been described with gastrointestinal bleeding, and awareness may allow medical management (eg, with thalidomide treatment and argon plasma coagulation) as well as prompt treatment of urgent situations; RBC transfusions have been described as necessary due to bone marrow failure. Refs. PMIDs: 27432940
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 | Abnormally low T cell receptor excision circle level |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bone marrow hypocellularity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Esophageal varices |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Gastrointestinal bleeding |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Growth delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hepatic fibrosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Intrauterine growth retardation |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Osteopenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Pancytopenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Portal hypertension |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Premature graying of hair |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Ataxia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Childhood onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Dystonia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 15 | Juvenile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 16 | Motor regression |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Retinal telangiectasia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 18 | Spasticity |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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.