alpha-N-acetylgalactosaminidase deficiency type 2

Rare Disease

MONDO:0012222

Also Known As

Kanzaki diseaseNAGA deficiency type 2Schindler disease type 2adult-onset Alpha-N-acetylgalactosaminidase deficiencyAlpha-N-acetylgalactosaminidase deficiency adult onsetAlpha-N-acetylgalactosaminidase deficiency, adult-onsetAlpha-N-acetylgalactosaminidase deficiency, type 2KANZAKI diseaseNaga deficiency, type 2Schindler disease, type 2

Definition

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.