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GTR Home > Conditions/Phenotypes > Alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase deficiency type 1

Synonyms
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I; NAGA DEFICIENCY, TYPE I; NAGA deficiency, type 1; Neuroaxonal dystrophy, Schindler type; SCHINDLER DISEASE, TYPE I; Schindler Disease; Schindler disease, type 1
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). [from OMIM]

Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • 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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