NAGA across dismech

NAGA (alpha-N-acetylgalactosaminidase) is named by 3 disorder entries, the three clinical forms of NAGA deficiency: Kanzaki Disease; NAGA Deficiency Type 3; and Schindler Disease.

Normal function

NAGA encodes the lysosomal exoglycosidase that removes terminal alpha-N-acetylgalactosamine from glycopeptides and glycolipids. The pinned ai-gene-review snapshot has no core functions for NAGA yet (0 terms); an upstream review is being added.

Causative records

All three entries type NAGA as causative: Kanzaki Disease; NAGA Deficiency Type 3; Schindler Disease, with the variants recorded as germline in each (Kanzaki Disease; NAGA Deficiency Type 3; Schindler Disease). In NAGA Deficiency Type 3 the gene sits on the node Alpha-N-Acetylgalactosaminidase Deficiency, which conforms to the module lysosomal_substrate_accumulation. The KB annotates NAGA nodes with glycoprotein catabolic process.

Where the layers disagree

ClinGen classifies NAGA for 1 disease, the umbrella alpha-N-acetylgalactosaminidase deficiency, which no dismech entry carries as its disease term; the three entries are the narrower clinical forms, so the ClinGen tier is not copied onto any of them.