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Schindler disease type 1
Summary
- Synonym
-
- NAGA deficiency type 1
- alpha-N-acetylgalactosaminidase deficiency type 1
- Definition
- A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
- Super Class
- Schindler disease
External Links
- Disease Ontology
- DOID:0112318
- 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:0002376 | Developmental regression |
| HP:0001249 | Intellectual disability |
| HP:0001347 | Hyperreflexia |
| HP:0003461 | Increased urinary O-linked sialopeptides |
| HP:0001290 | Generalized hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0000938 | Osteopenia |
