Information on IIAE10
Name: Susceptibility to acute infection-induced encephalopathy type 10 | Acronym: IIAE10
Alt. names: SNORA31 deficiency
Gene: SNORA31 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 by Andrés Caballero-Oteyza
Description
It presents as neurologic deficits in response to acute infection, particularly with herpes simplex virus-1 (HSV-1), which leads to inflammation of the brain and herpes simplex encephalitis (HSE). The age at onset ranges from infancy to adult. However, some mutation carriers do not develop encephalopathy even if exposed to the virus, indicating incomplete penetrance (summary by Lafaille et al., 2019). [OMIM]
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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Herpes simplex encephalitis |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Age of onset
distribution
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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.
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).