| Concept | Value | Notes | Primary supporting source (with citation id) |
|---|---|---|---|
| Disease name | Kanzaki disease | Adult-onset, milder phenotype within the Schindler disease spectrum; a lysosomal storage disorder due to alpha-N-acetylgalactosaminidase deficiency. | Rossor 2024 table entry; Castro 2019 definition (pqac-00000017, pqac-00000012) |
| Synonym | Schindler disease type II | Explicitly equated with Kanzaki disease in retrieved sources. | Asadi 2021; Castro 2019 (pqac-00000010, pqac-00000012) |
| Synonym | Alpha-N-acetylgalactosaminidase deficiency type 2 | MONDO/Open Targets naming for the type 2 subtype corresponding to Kanzaki disease. | Open Targets / MONDO mapping (pqac-00000014) |
| Broader disease term | Alpha-N-acetylgalactosaminidase deficiency | Parent disease term spanning types 1–3; Kanzaki disease is type 2. | Open Targets / MONDO mapping; Castro 2019 (pqac-00000014, pqac-00000012) |
| Broader disease term | Schindler disease | Broader clinical label for the spectrum; types I–III described in retrieved literature. | Castro 2019; Asadi 2021 (pqac-00000012, pqac-00000010) |
| OMIM | 609242 | Rossor 2024 lists Kanzaki disease with OMIM 609242 and AR inheritance linked to NAGA. | Rossor 2024 (pqac-00000017) |
| MONDO | MONDO:0012222 | Open Targets lists “alpha-N-acetylgalactosaminidase deficiency type 2,” corresponding to Kanzaki disease / Schindler disease type II. | Open Targets / MONDO mapping (pqac-00000014) |
| MONDO (parent term) | MONDO:0017779 | Parent disease term: alpha-N-acetylgalactosaminidase deficiency. | Open Targets / MONDO mapping (pqac-00000014) |
| MONDO (related subtype) | MONDO:0012221 | Type 1 subtype of alpha-N-acetylgalactosaminidase deficiency; related but not Kanzaki disease. Included for ontology context. | Open Targets / MONDO mapping (pqac-00000014) |
| MONDO (related subtype) | MONDO:0019264 | Type 3 subtype of alpha-N-acetylgalactosaminidase deficiency; related but not Kanzaki disease. Included for ontology context. | Open Targets / MONDO mapping (pqac-00000014) |
| Causal gene | NAGA | NAGA encodes alpha-N-acetylgalactosaminidase; causative gene for Schindler/Kanzaki disease spectrum. | Asadi 2021; Rossor 2024; Open Targets (pqac-00000010, pqac-00000017, pqac-00000014) |
| Inheritance | Autosomal recessive | Explicitly reported for Kanzaki disease / Schindler disease type II. | Rossor 2024; Asadi 2021 (pqac-00000017, pqac-00000010) |
| ICD-10 | Not found in retrieved sources | Direct ICD query needed; no ICD identifier was present in the retrieved evidence. | No identifier in retrieved evidence set (pqac-00000014, pqac-00000017) |
| ICD-11 | Not found in retrieved sources | Direct ICD query needed; no ICD-11 identifier was present in the retrieved evidence. | No identifier in retrieved evidence set (pqac-00000014, pqac-00000017) |
| MeSH | Not found in retrieved sources | Direct MeSH query needed; not reported in retrieved papers/platform evidence. | No identifier in retrieved evidence set (pqac-00000012, pqac-00000014) |
| Orphanet | Not found in retrieved sources | Direct Orphanet query needed; Open Targets notes Orphanet as an evidence source but no Orphanet ID was exposed in the retrieved output. | Open Targets evidence summary (pqac-00000014) |


*Table: This table summarizes the main names and ontology/database identifiers retrieved for Kanzaki disease, including its relationship to Schindler disease type II and alpha-N-acetylgalactosaminidase deficiency type 2. It highlights which identifiers were directly supported by retrieved evidence and which require follow-up database queries.*