Orphanet: Classic homocystinuria

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Classic homocystinuria

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Cystathionine beta-synthase deficiency
    • Homocystinuria due to cystathionine beta-synthase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.1
  • OMIM: 236200
  • UMLS: C0751202
  • MeSH: -
  • GARD: 6667
  • MedDRA: 10071093

Detailed information

Article for general public


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