Information on AGS5
Basic details
Name: Aicardi-Goutieres syndrome 5 | Acronym: AGS5
Alt. names:
Gene: SAMHD1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 2 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
For Aicardi-Goutieres syndrome related to mutations in SAMHD1, it has been suggested that individuals should be actively screened for intracranial arteriopathy in order to allow prompt intervention, which may reduce morbidity and mortality. Refs. PMIDs: 19525956; 20301648; 20358604; 20653736; 20842748; 21102625; 21402907; 21204240; 21633013; 22149989
Management
Description of management option has not been reviewed yet.
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2 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
106552 |
U | 216076 | Definitive | Maltese | PMID:25278816 [F104]; PMID:19525956 [AGS104] | |||
| 106553 |
U | 216077 | Definitive | Maltese | PMID:19525956 [AGS79] |
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 | Leukodystrophy |
17 (94.4%) | 0 (0.0%) | 1 (5.6%) |
| 2 | Basal ganglia calcification |
15 (79.0%) | 0 (0.0%) | 4 (21.1%) |
| 3 | Global developmental delay |
14 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Intracerebral periventricular calcifications |
12 (63.2%) | 0 (0.0%) | 7 (36.8%) |
| 5 | Infantile onset |
11 (68.8%) | 0 (0.0%) | 5 (31.3%) |
| 6 | CSF lymphocytic pleiocytosis |
9 (75.0%) | 0 (0.0%) | 3 (25.0%) |
| 7 | Chilblains |
8 (57.1%) | 0 (0.0%) | 6 (42.9%) |
| 8 | Increased serum IFN-gamma level |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Spasticity |
5 (31.3%) | 0 (0.0%) | 11 (68.8%) |
| 10 | Irritability |
3 (18.8%) | 0 (0.0%) | 13 (81.3%) |
| 11 | Childhood onset |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 12 | Antenatal onset |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 13 | Congenital onset |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 14 | Neonatal onset |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
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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.