Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17050 | Alpha-N-acetylgalactosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0007428 | Telangiectasia of the oral mucosa |
| HP:0001640 | Cardiomegaly |
| HP:0200034 | Papule |
| HP:0001256 | Intellectual disability, mild |
| HP:0009830 | Peripheral neuropathy |
| HP:0002321 | Vertigo |
| HP:0001071 | Angiokeratoma corporis diffusum |
| HP:0007759 | Opacification of the corneal stroma |
