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Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Disease definition

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.


Classification level: Subtype of disorder
  • Synonym(s):
    • Cardiovascular Gaucher disease
    • Gaucher disease type 3C
    • Gaucher-like disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.2
  • OMIM: 231005
  • UMLS: C1856476  C2931585
  • MeSH: -
  • GARD: 12504  2445
  • MedDRA: -

Detailed information

Article for general public


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