x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:2072

  • 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

Professionals

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.