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GTR Home > Conditions/Phenotypes > Alpha-N-acetylgalactosaminidase deficiency type 2

Alpha-N-acetylgalactosaminidase deficiency type 2

Synonyms
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II; Alpha-N-acetylgalactosaminidase deficiency adult onset; Kanzaki disease; NAGA DEFICIENCY, TYPE II; NAGA deficiency type 2; SCHINDLER DISEASE, TYPE II; Schindler disease type 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). [from OMIM]

Available tests

21 tests are in the database for this condition.

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Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: D22S674, GALB, NAGA
    Summary: alpha-N-acetylgalactosaminidase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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