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inborn disorder of cobalamin metabolism and transport - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inborn disorder of cobalamin metabolism and transport

MONDO:0019220

Also known as:cobalamin deficiencyhypocobalaminemiainborn error of cobalamin metabolic process

Find Clinical TrialsTrials

Overview

An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.

Clinical Trials3 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for inborn disorder of cobalamin metabolism and transport 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.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and medical devices. Pipeline includes 1 PHASE4, 1 NA. Research is sponsored by a mix of industry and academic institutions.

110 publications have been identified in PubMed for inborn disorder of cobalamin metabolism and transport. Research spans Case Report / Case Series (34%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	37

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79171

GARD

Genetic and Rare Diseases Info Center

GARD:18951

Questions for Your Care Team

→Are any of the 3 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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inborn disorder of cobalamin metabolism and transport

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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