Information on RIDDLE
Basic details
Name: RIDDLE syndrome | Acronym: RIDDLE
Alt. names:
Gene: RNF168 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described with immunodefiency, as well as radiosensitivity, and thus preventive measures and prophylaxis and early and aggressive treatment of infections may be warranted. It has been suggested that heterozygotes may demonstrate an increased risk of oncologic processes as well. Refs. PMIDs: 17940005; 19203578; 21394101
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 |
|---|
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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.