IEMbase 0264: Alpha-N-acetylgalactosaminidase deficiency, Schindler disease type III
Scope
| Field | Value |
|---|---|
| IEMbase ID | 264 |
| Nosology | 20.3.05.03 |
| Gene | NAGA |
| External IDs | OMIM:609241; ORPHA:79281 |
| Generated mapping | MAPPED; NAGA_Deficiency_Type_3.yaml |
| Candidate DisMech targets | NAGA_Deficiency_Type_3.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as alpha-N-acetylgalactosaminidase deficiency with alternate labels Schindler disease type III 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 autism, cardiomyopathy, cataract, developmental delay, hepatomegaly, and seizures.
DisMech phenotype coverage
NAGA_Deficiency_Type_3.yaml is the correct local target. The local entry
defines alpha-N-acetylgalactosaminidase deficiency type 3/Schindler disease type
III as the intermediate NAGA deficiency phenotype between severe infantile type
I and mild adult Kanzaki/type II disease. It covers biallelic NAGA variants,
alpha-NAGA deficiency, glycoconjugate accumulation, glycopeptiduria and
oligosacchariduria, seizures, behavioral difficulties, autism, psychomotor
retardation, intellectual disability, congenital cataract, strabismus,
hypertrophic cardiomyopathy, hepatomegaly, clinical heterogeneity, and
supportive care.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on NAGA/type III identity, autosomal recessive inheritance, decreased alpha-N-acetylgalactosaminidase activity, autism or neurodevelopmental delay, seizures, cataract, cardiomyopathy, and hepatomegaly. DisMech is richer for spectrum placement, genotype/phenotype heterogeneity, and supportive care. The shared OMIM/ORPHA identifiers with the Schindler type I record appear to reflect source-level subtype grouping rather than equivalence between type I and type III disease entities.
Curation actions
- Keep this record mapped to
NAGA_Deficiency_Type_3.yaml. - No mapping correction is needed.
- Use IEMbase's concise phenotype rows as confirmation prompts if the type 3 entry is reviewed further.