hyperhomocysteinemia

Summary
Definition
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
Super Class
amino acid metabolic disorder
Disease Ontology
DOID:9279
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
875 CBS cystathionine beta-synthase
4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
Displaying all 5 entries
Gene ID Gene Symbol Description Source
24409 Grin2a glutamate ionotropic receptor NMDA type subunit 2A
24410 Grin2b glutamate ionotropic receptor NMDA type subunit 2B
29243 F10 coagulation factor X
50592 Gria1 glutamate ionotropic receptor AMPA type subunit 1
306761 F12 coagulation factor XII

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025