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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:0000666 | Horizontal nystagmus |
| HP:0002464 | Spastic dysarthria |
| HP:0007350 | Hyperreflexia in upper limbs |
| HP:0001761 | Pes cavus |
