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Alpha-N-acetylgalactosaminidase deficiency type 2

MONDO:0012222

Alpha-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.

Also known as: Kanzaki disease, NAGA deficiency type 2, Schindler disease type 2, adult-onset Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency adult onset, Alpha-N-acetylgalactosaminidase deficiency, adult-onset, Alpha-N-acetylgalactosaminidase deficiency, type 2, KANZAKI disease

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Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Inborn errors of metabolism (47) Lysosomal storage disease (36) Human disease (15) Developmental defect during embryogenesis (8) Carbohydrate metabolism disease (4) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2)

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