Information on THC7
Basic details
Name: Thrombocytopenia 7 | Acronym: THC7
Alt. names: Thrombocytopenia, autosomal dominant, 7
Gene: IKZF5 | 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 Andrés Caballero-Oteyza
Description
It is characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. Some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers. Some patients were noted to present recurrent infecions and low numbers of B and T cells.
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 | Thrombocytopenia |
23 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Reduced platelet alpha granules |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Impaired ADP-induced platelet aggregation |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 4 | Impaired arachidonic acid-induced platelet aggregation |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 5 | Impaired collagen-induced platelet aggregation |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 6 | Reduced platelet dense granules |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Impaired ristocetin-induced platelet aggregation |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 8 | Post-partum hemorrhage |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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