Hereditary spastic paraplegia type 4
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
neurodegenerative disease rare disease |
| gptkbp:alternativeName |
gptkb:SPG4
SPAST-related hereditary spastic paraplegia |
| gptkbp:causedBy |
mutation in SPAST gene
|
| gptkbp:containsGene |
gptkb:SPAST
|
| gptkbp:frequency |
most common form of autosomal dominant hereditary spastic paraplegia
|
| gptkbp:hasOrphanetID |
ORPHA:319
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary spastic paraplegia type 4
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
182601
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:symptom |
bladder dysfunction
mild sensory loss progressive spasticity of lower limbs weakness of lower limbs |
| gptkbp:treatment |
physical therapy
symptomatic treatment antispasticity medications |
| gptkbp:bfsParent |
gptkb:ORPHA729
gptkb:ORPHA774 gptkb:ORPHA399 |
| gptkbp:bfsLayer |
7
|