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hereditary spastic paraplegia 5A
Summary
- Synonym
-
- SPG5A
- autosomal recessive spastic paraplegia 5A
- autosomal recessive spastic paraplegia type 5A
- Definition
- A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110810
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2583 | B4GALNT1 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4099 | MAG | myelin associated glycoprotein | |
| 5833 | PCYT2 | phosphate cytidylyltransferase 2, ethanolamine | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 | |
| 9420 | CYP7B1 | cytochrome P450 family 7 subfamily B member 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0011448 | Ankle clonus |
| HP:0000639 | Nystagmus |
| HP:0006986 | Upper limb spasticity |
| HP:0002070 | Limb ataxia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003487 | Babinski sign |
| HP:0002015 | Dysphagia |
| HP:0007340 | Lower limb muscle weakness |
