Alpha-N-acetylgalactosaminidase deficiency

Orpha code: 3137OMIM code: 609242

Definition

A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.

Disease data
Classification

Disease

Synonyms
NAGA deficiency
Choroba Schindlera
Niedobór NAGA
Schindler disease
ORPHA code
3137
OMIM code
609242
ICD10 code
E77.1
ICD11 code
5C56.21

No additional description.

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