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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:0000179 | Thick lower lip vermilion |
| HP:0003409 | Distal sensory impairment of all modalities |
| HP:0000503 | Tortuosity of conjunctival vessels |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003461 | Increased urinary O-linked sialopeptides |
| HP:0006812 | White mater abnormalities in the posterior periventricular region |
| HP:0000958 | Dry skin |
| HP:0002460 | Distal muscle weakness |
| HP:0100543 | Cognitive impairment |
| HP:0000967 | Petechiae |
