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hereditary antithrombin deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Decreased level of heparin co-factor II and Recurrent thrombophlebitis; and very common findings: Reduced antithrombin III activity and Reduced antithrombin antigen. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Decreased level of heparin co-factor II
Brain and nerves	1	Cerebral venous thrombosis
Lungs and breathing	1	Pulmonary embolism
Eyes	1	Retinal vein occlusion
Digestive system	1	Hepatic vein thrombosis

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.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE3, 1 PHASE2. Research is sponsored by a mix of industry and academic institutions.

94 publications have been identified in PubMed for hereditary antithrombin deficiency. Research spans Case Report / Case Series (34%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	32	34%
Research summaries	20	21%
Disease patterns and progression	14	15%
Laboratory research	12	13%
Testing and diagnosis research	6	6%
Clinical study results	5	5%
Other research	4	4%
New treatment approaches	1	1%

Recent Publications

Yi X (2026). [PMID: 41713385](https://pubmed.ncbi.nlm.nih.gov/41713385/). *Thromb Res*. [Other]
Zhao Y (2026). [PMID: 40097149](https://pubmed.ncbi.nlm.nih.gov/40097149/). *Thromb Haemost*. [Case Report / Case Series]
Asakura H (2026). [PMID: 41761262](https://pubmed.ncbi.nlm.nih.gov/41761262/). *Thromb J*. [Clinical Trial Publication]
Rath W (2026). [PMID: 41961304](https://pubmed.ncbi.nlm.nih.gov/41961304/). *Arch Gynecol Obstet*. [Review / Meta-Analysis]
Dix C (2026). [PMID: 40784553](https://pubmed.ncbi.nlm.nih.gov/40784553/). *J Thromb Haemost*. [Basic Science / Preclinical]
AlShaer D (2026). [PMID: 41754785](https://pubmed.ncbi.nlm.nih.gov/41754785/). *Pharmaceuticals (Basel)*. [Review / Meta-Analysis]
Ochotnicka J (2026). [PMID: 41861498](https://pubmed.ncbi.nlm.nih.gov/41861498/). *Thromb Res*. [Basic Science / Preclinical]
Son BJ (2026). [PMID: 41876387](https://pubmed.ncbi.nlm.nih.gov/41876387/). *Catheter Cardiovasc Interv*. [Case Report / Case Series]
Zhou H (2026). [PMID: 42221117](https://pubmed.ncbi.nlm.nih.gov/42221117/). *Front Med (Lausanne)*. [Case Report / Case Series]
Hamulyák EN (2026). [PMID: 41500750](https://pubmed.ncbi.nlm.nih.gov/41500750/). *J Thromb Haemost*. [Clinical Trial Publication]

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hereditary antithrombin deficiency

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hereditary antithrombin deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team