Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

thrombomodulin-related bleeding disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombomodulin-related bleeding disorder

MONDO:0013775

Also known as:THBD-related bleeding disorderTHBD-related coagulopathythrombomodulin-related coagulopathy

Overview

GeneticsAutosomal dominant · THBD (chr 20)

Clinical Presentation

Features include common findings: Deep venous thrombosis and Pulmonary embolism. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	1	Pulmonary embolism

Explore clinical features

Genetic Landscape

THBD function has not been fully characterized.

Thrombomodulin-related bleeding disorder has limited evidence linking it to mutations in the THBD gene on chromosome 20.

Diagnosis

Genetic testing for THBD is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for thrombomodulin-related bleeding disorder has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for thrombomodulin-related bleeding disorder.

136 publications have been identified in PubMed for thrombomodulin-related bleeding disorder. Research spans Review / Meta-Analysis (66%), Epidemiology / Natural History (14%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Research summaries	78	66%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 7:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614486

Orphanet

European rare disease database

Orphanet:436169

GARD

Genetic and Rare Diseases Info Center

GARD:17726

Questions for Your Care Team

→Should I pursue genetic testing for THBD, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

thrombomodulin-related bleeding disorder

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications