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hereditary spastic paraplegia 9A
Summary
- Synonym
-
- AD-SPG9A
- Cataracts motor neuropathy-short stature-skeletal anomalies syndrome
- SPG9A
- autosomal dominant complex spastic paraplegia type 9A
- autosomal dominant spastic paraplegia 9A
- cataracts with motor neuronopathy, short stature and skeletal abnormalities
- spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux
- spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
- Definition
- A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
- Super Class
- autosomal dominant disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110824
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 51302 | CYP39A1 | cytochrome P450 family 39 subfamily A member 1 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 84188 | FAR1 | fatty acyl-CoA reductase 1 | |
| 85465 | SELENOI | selenoprotein I | |
| 113612 | CYP2U1 | cytochrome P450 family 2 subfamily U member 1 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002172 | Postural instability |
| HP:0011397 | Abnormality of the dorsal column of the spinal cord |
| HP:0001250 | Seizure |
| HP:0003394 | Muscle spasm |
| HP:0000519 | Developmental cataract |
| HP:0002425 | Anarthria |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001653 | Mitral regurgitation |
| HP:0000020 | Urinary incontinence |
| HP:0002500 | Abnormal cerebral white matter morphology |
