Information on AGM9
Basic details
Name: Agammaglobulinemia 9 | Acronym: AGM9
Alt. names: ZIP7 deficiency | SLC39A7 deficiency
Gene: SLC39A7 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 1 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by
Description
A form of agammaglobulinemia that can be caused by biallelic loss of function mutations in the gene SLC39A7. It is characterized by early onset infections, blistering dermatosis, failure to thrive and thrombocytopenia
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
101368 |
F | 210392 | 46 | 1 | German | PMID:34975878 [Fam.F132:P132] |
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 | Hepatopathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bronchiectasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hepatitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Chronic obstructive pulmonary disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | (unusual) Viral infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Hepatitis C |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Antineutrophil antibodies |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
| 10 | Antinuclear antibodies |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
| 11 | Rheumatoid factor positive |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
| 12 | Autoimmunity |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
| 13 | Autoimmune antibody positivity |
0 (0.0%) | 1 (99.9%) | 0 (0.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.