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Alpha-N-acetylgalactosaminidase deficiency type 2
rareAlpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
- Identifiers
- MONDO:0012222 OMIM:609242Orphanet:79280
- Causal genes
- NAGA
- Also known as
- adult-onset Alpha-N-acetylgalactosaminidase deficiency · Alpha-N-acetylgalactosaminidase deficiency adult onset · Kanzaki disease · NAGA deficiency type 2 · Schindler disease type 2
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