Information on THC1
Basic details
Name: Thrombocytopenia 1 | Acronym: THC1
Alt. names: inherited thrombocytopenia
Gene: WAS | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1995
Last updated on: 2023-05-17 17:25:50 by
Description
Mainly characterized by presence of thrombocytopenia, transient eczemas and easy bruisability. Patients also show increased IgA and IgE levels.
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.
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 | Congenital thrombocytopenia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased mean platelet volume |
3 (99.9%) | 0 (0.0%) | 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.