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hereditary spastic paraplegia 56
Summary
- Synonym
-
- SPG56
- autosomal recessive spastic paraplegia 56
- autosomal recessive spastic paraplegia type 56
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110808
- 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:0100543 | Cognitive impairment |
| HP:0002064 | Spastic gait |
| HP:0002453 | Abnormal globus pallidus morphology |
| HP:0007350 | Hyperreflexia in upper limbs |
| HP:0001270 | Motor delay |
| HP:0003593 | Infantile onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003621 | Juvenile onset |
| HP:0002135 | Basal ganglia calcification |
| HP:0011463 | Childhood onset |
