Information on AGS8
Basic details
Name: Aicardi-Goutieres syndrome 8 | Acronym: AGS8
Alt. names: LSM11 deficiency
Gene: LSM11 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
At least 2 patients have been described with this condition. It is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification (Uggenti et al., 2020).[OMIM]
Management
Description of management option has not been reviewed yet.
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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 | Abnormal cerebral white matter morphology |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Basal ganglia calcification |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | CSF pleocytosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Cerebral atrophy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Congenital onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hypoplastic male external genitalia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Irritability |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Severe global developmental delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Nystagmus |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Seizures |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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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.