Information on PTEND
Basic details
Name: PTEN deficiency | Acronym: PTEND
Alt. names: PTEN LOF
Gene: PTEN | MOI: Autosomal dominant | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
https://www.jacionline.org/article/S0091-6749(16)30497-3/fulltext
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.