Information on AGS1
Basic details
Name: Aicardi-Goutieres syndrome 1 | Acronym: AGS1
Alt. names: Aicardi-Goutieres syndrome
Gene: TREX1 | MOI: Autosomal inheritance | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2006
Last updated on: 2023-05-17 17:25:50 by
Description
The condition may include pulmonary hypertension, and awareness may allow surveillance, prompt diagnosis of disease, and management of this sequelae. Refs. PMIDs: 6712192; 3731164; 3174024; 1821204; 8592332; 9371916; 10449133; 15807828; 16845398; 16960810; 17440703; 17660818; 17846997; 17660820; 20301648; 20799324; 21808053; 22356656; 22829693; 30219631
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 | Chilblains |
40 (44.4%) | 0 (0.0%) | 50 (55.6%) |
| 2 | Increased CSF interferon alpha |
34 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Basal ganglia calcification |
25 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Chronic CSF lymphocytosis |
23 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Thrombocytopenia |
12 (70.6%) | 0 (0.0%) | 5 (29.4%) |
| 6 | Cardiomyopathy |
9 (11.4%) | 0 (0.0%) | 70 (88.6%) |
| 7 | Hepatomegaly |
9 (47.4%) | 0 (0.0%) | 10 (52.6%) |
| 8 | Glaucoma |
7 (8.9%) | 0 (0.0%) | 72 (91.1%) |
| 9 | Elevated hepatic transaminases |
6 (31.6%) | 0 (0.0%) | 13 (68.4%) |
| 10 | Hypothyroidism |
6 (7.6%) | 0 (0.0%) | 73 (92.4%) |
| 11 | Seizures |
5 (26.3%) | 0 (0.0%) | 14 (73.7%) |
| 12 | Diabetes insipidus |
3 (3.8%) | 0 (0.0%) | 76 (96.2%) |
| 13 | Microcephaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Spasticity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Absent speech |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Antiphospholipid antibody positive |
1 (1.3%) | 0 (0.0%) | 78 (98.7%) |
| 17 | CNS demyelination |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | CSF lymphocytic pleiocytosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Cerebellar calcifications |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Dystonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Erythema |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | Global developmental delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Inability to walk |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Intracerebral periventricular calcifications |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | Petechiae |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 26 | Self-mutilation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 27 | short stature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 28 | Vasculitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.