thrombomodulin-related bleeding disorder

Findings

No curated finding names thrombomodulin-related bleeding disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Adult onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• coagulation protein disease
• hemorrhagic disease
• inherited thrombophilia

Resolves to: thrombomodulin-related bleeding disorder

Also called

THBD-related bleeding disorderTHBD-related coagulopathythrombomodulin-related coagulopathythrombophilia 12 due to thrombomodulin defect