GenTIGSA Gene Database on Rare Genetic Disorders
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Classic Homocystinuria  
Disease Aliases (19)

Cbs deficiency

Cbs deficiencies

Cystathionine beta-synthase deficiency

Classic homocystinuria

Cystathionine beta synthase deficiency

Cystathionine beta synthase deficiency disease

Cystathionine beta-synthase deficiency disease

Deficiencies, cbs

Deficiency disease, cystathionine beta synthase

Deficiency disease, cystathionine beta-synthase

Deficiency of beta-thionase

Deficiency of methylcysteine synthase

Deficiency of serine sulfhydrase

Deficiency, cbs

Homocystinuria with or without response to pyridoxine

Hyperhomocysteinemia, thrombotic, cbs-related

Homocystinuria caused by cystathionine beta-synthase deficiency

Homocystinuria due to cbs deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Associated Genes (1)
 

NCBI-RefSeq:  CBS   (Cystathionine beta-synthase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Classic homocystinuria OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations