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

Glycogen storage disease due to LAMP-2 deficiency

Disease definition

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

ORPHA:34587

  • Synonym(s):
    • Danon disease
    • GSD due to LAMP-2 deficiency
    • Glycogenosis due to LAMP-2 deficiency
    • Lysosomal glycogen storage disease with normal acid maltase activity
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 300257
  • UMLS: C0878677
  • MeSH: -
  • GARD: 9730
  • MedDRA: -

Detailed information

Article for general public

Professionals

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.