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Kanzaki disease
Summary
- Synonym
-
- NAGA deficiency type 2
- adult-onset alpha-N-acetylgalactosaminidase deficiency
- alpha-N-acetylgalactosaminidase deficiency type 2
- Definition
- A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.
- Super Class
- Schindler disease
External Links
- Disease Ontology
- DOID:0112319
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17050 | Alpha-N-acetylgalactosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002321 | Vertigo |
| HP:0000360 | Tinnitus |
| HP:0009830 | Peripheral neuropathy |
| HP:0001071 | Angiokeratoma corporis diffusum |
| HP:0100585 | Telangiectasia of the skin |
| HP:0001482 | Subcutaneous nodule |
| HP:0000962 | Hyperkeratosis |
| HP:0007428 | Telangiectasia of the oral mucosa |
| HP:0002936 | Distal sensory impairment |
| HP:0003477 | Peripheral axonal neuropathy |
