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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17050 | Alpha-N-acetylgalactosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0010864 | Intellectual disability, severe |
| HP:0100585 | Telangiectasia of the skin |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0000365 | Hearing impairment |
| HP:0002240 | Hepatomegaly |
| HP:0000962 | Hyperkeratosis |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0000648 | Optic atrophy |
| HP:0007256 | Abnormal pyramidal sign |
