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homocystinuria-megaloblastic anemia cblD type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

homocystinuria-megaloblastic anemia cblD type

MONDO:0700297

Overview

GeneticsMMADHC (chr 2)

ResearchLimited published research (3 articles)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MMADHC encodes metabolism of cobalamin associated D (296 aa). Involved in cobalamin metabolism and trafficking. Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl). Highest expression in Cells EBV-transformed lymphocytes (157.4 TPM) and Cells Cultured fibroblasts (145.1 TPM).

Homocystinuria-megaloblastic anemia cblD type is associated with mutations in the MMADHC gene on chromosome 2.

The MMADHC protein participates in Defective MMADHC does not bind MMACHC:B12r and MMADHC targets transport of cytosolic cob(II)alamin to mitochondria pathways.

MMADHC is classified as a druggable target with score 10.4.

Diagnosis

Genetic testing for MMADHC is available. Testing is considered confirmatory for diagnosis.

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 homocystinuria-megaloblastic anemia cblD type.

3 publications have been identified in PubMed for homocystinuria-megaloblastic anemia cblD type. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]
Heinken A (2025). [PMID: 40790789](https://pubmed.ncbi.nlm.nih.gov/40790789/). *J Inherit Metab Dis*. [Basic Science / Preclinical]
Mucha P (2024). [PMID: 39125597](https://pubmed.ncbi.nlm.nih.gov/39125597/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620952

Questions for Your Care Team

→Should I pursue genetic testing for MMADHC, 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?

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homocystinuria-megaloblastic anemia cblD type

Overview

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team