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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54886 | Delta-1-pyrroline-5-carboxylate synthase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000709 | Psychosis |
| HP:0007371 | Corpus callosum atrophy |
| HP:0002064 | Spastic gait |
| HP:0100515 | Pollakisuria |
| HP:0002354 | Memory impairment |
| HP:0001324 | Muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0000012 | Urinary urgency |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0000407 | Sensorineural hearing impairment |
