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hyperhomocysteinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperhomocysteinemia

MONDO:0004743

Also known as:homocysteinemia

Find Clinical TrialsTrials

Overview

A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.

Clinical Trials2 registered · 2 recruiting

Diagnosis

Biomarker and diagnostic research for hyperhomocysteinemia has been reported in the published literature.

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

309 publications have been identified in PubMed for hyperhomocysteinemia. Kisho has analyzed 170 by research type. Research spans Review / Meta-Analysis (36%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Research summaries	62

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:603174

GARD

Genetic and Rare Diseases Info Center

GARD:8230

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperhomocysteinemia

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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