Glycogen storage disease due to LAMP-2 deficiency

Orpha code: 34587OMIM code: 300257

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.

Disease data
Classification

Disease

Synonyms
Danon disease
Choroba Danona
Choroba spichrzania glikogenu z prawidłowym poziomem kwaśnej maltazy
Glikogenoza z powodu niedoboru LAMP-2
GSD z powodu niedoboru LAMP-2
GSD due to LAMP-2 deficiency
Glycogenosis due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity
ORPHA code
34587
OMIM code
300257
ICD10 code
E74.0
ICD11 code
-

No additional description.

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