IEMbase 0263: NAGA-related Alpha-N-acetylgalactosaminidase deficiency, Kanzaki disease
Scope
| Field | Value |
|---|---|
| IEMbase ID | 263 |
| Nosology | 20.3.05.02 |
| Gene | NAGA |
| External IDs | OMIM:609242; ORPHA:79280 |
| Generated mapping | MAPPED; Kanzaki_Disease.yaml |
| Candidate DisMech targets | Kanzaki_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as NAGA-related alpha-N-acetylgalactosaminidase deficiency, with alternate labels Kanzaki disease, Schindler disease type II, and NAGA. The record is autosomal recessive and treatability is marked unknown, with no treatment rows in the cached JSON.
Biochemical rows include decreased alpha-N-acetylgalactosaminidase activity in fibroblasts and white blood cells. Clinical rows include angiokeratoma, corneal clouding, mild intellectual disability, and sensory axonal neuropathy.
DisMech phenotype coverage
Kanzaki_Disease.yaml is the correct local target. The local entry covers
Kanzaki disease as alpha-N-acetylgalactosaminidase deficiency type 2/
Schindler disease type II, the adult-onset mild form of NAGA deficiency. It
captures biallelic NAGA variants, deficient alpha-NAGA activity, Tn-antigen
glycopeptide accumulation, urinary glycopeptiduria, angiokeratoma corporis
diffusum, peripheral neuropathy, sensorineural hearing loss, lymphedema, coarse
facial features, mild intellectual disability, vertigo, supportive care, and
experimental pharmacological chaperone therapy.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on NAGA/type II identity, deficient alpha-N-acetylgalactosaminidase activity, autosomal recessive inheritance, angiokeratoma, mild cognitive involvement, and peripheral/sensory axonal neuropathy. IEMbase adds corneal clouding as a useful phenotype prompt, while DisMech adds lymphedema, hearing loss, vertigo, Tn-antigen storage biology, and treatment context.
Curation actions
- Keep this record mapped to
Kanzaki_Disease.yaml. - No mapping correction is needed.
- Use IEMbase's corneal clouding row as an enrichment prompt during future Kanzaki disease review.