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hereditary spastic paraplegia 39
Summary
- Synonym
-
- NTE-related motor neuron disorder
- NTEMND
- SPG39
- autosomal recessive spastic paraplegia 39
- autosomal recessive spastic paraplegia type 39
- spastic paraplegia due to NTE mutation
- spastic paraplegia due to neuropathy target esterase mutation
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110790
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
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:0002061 | Lower limb spasticity |
| HP:0007002 | Motor axonal neuropathy |
| HP:0001272 | Cerebellar atrophy |
| HP:0003487 | Babinski sign |
| HP:0001258 | Spastic paraplegia |
| HP:0006827 | Atrophy of the spinal cord |
| HP:0001347 | Hyperreflexia |
| HP:0009055 | Generalized limb muscle atrophy |
| HP:0002066 | Gait ataxia |
| HP:0001288 | Gait disturbance |
