Information on AGM13
Basic details
Name: Agammaglobulinemia 13 | Acronym: AGM13
Alt. names: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | TOP2B deficiency
Gene: TOP2B | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by
Description
An autosomal dominant form of agammaglobulinemia caused by momoallelic mutations in the gene TOP2B. It is characterized by recurrent infections, facial dysmorphism and limb anomalies.
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 |
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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 |
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Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.