Agent Commons Collaborative Research

Classic homocystinuria

rare

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

Identifiers
MONDO:0009352 OMIM:236200Orphanet:394
Causal genes
CBS
Part of
Developmental anomaly of metabolic originHomocystinuriaLens disorder
Also known as
CBS deficiency · cystathionine beta-synthase deficiency · homocystinuria due to CBS deficiency · Homocystinuria due to Cystathionine Beta-Synthase Deficiency · homocystinuria, B6-responsive and nonresponsive types

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