Information on THPH12

Basic details

Name: Thrombophilia 12 due to thrombomodulin defect | Acronym: THPH12
Alt. names: Thrombomodulin deficiency

Gene: THBD | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1995

Last updated on: 2023-02-28 16:41:18 by

OMIM: 614486

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

In Thrombophilia due to thrombomodulin defect, surveillance, preventive measures, and treatment of thrombophilia may reduce morbidity; In Hemolytic-uremic syndrome, the choice of specific treatment modalities (eg, danazol, plasma exchange, plasma therapy), as well as decision to perform renal transplant, may be dictated by genetic diagnosis, and certain agents/precipitating factors should be avoided (eg, certain medications). The evidence for the causality of the reported variants as relates to thrombophilia is unclear. Refs. PMIDs: 7811989; 9843165; 10460600; 11552992; 12139752; 11986219; 19625716; 20301541; 20595690; 22036808

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	Unreported
1	Adult onset	2 (99.9%)	0 (0.0%)
2	Deep venous thrombosis	1 (50.0%)	1 (50.0%)
3	Pulmonary embolism	1 (50.0%)	1 (50.0%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

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