spastic paraplegia type 1

GPTKB entity

Statements (82)
Predicate Object
gptkbp:instanceOf gptkb:hereditary_spastic_paraplegia
genetic disorder
gptkbp:containsGene SPG1
gptkbp:firstDescribed 1880
gptkbp:hasOrphanetID ORPHA:100980
gptkbp:hasUMLSID C1854302
https://www.w3.org/2000/01/rdf-schema#label spastic paraplegia type 1
gptkbp:inheritance X-linked dominant
gptkbp:MeSH_ID D020777
gptkbp:OMIM 182600
gptkbp:symptom gptkb:spastic_diplegia
gptkb:Babinski_sign
epilepsy
nystagmus
intellectual disability
muscle stiffness
tremor
muscle pain
muscle atrophy
muscle twitching
muscle weakness
spasticity
bladder dysfunction
cognitive impairment
scoliosis
hearing loss
visual impairment
paraplegia
seizures
ataxia
developmental delay
muscle cramps
gait disturbance
quadriplegia
learning difficulties
muscle fatigue
dysphagia
urinary incontinence
muscle wasting
muscle rigidity
urinary urgency
contractures
hemiplegia
speech difficulties
dysarthria
muscle hypotonia
hyperreflexia
spastic gait
muscle hypertrophy
lower limb spasticity
lower limb weakness
mild sensory loss
progressive spasticity of lower limbs
weakness of lower limbs
muscle spasm
foot deformities
pyramidal signs
dysmetria
mild intellectual disability
optic atrophy
dysphonia
tetraplegia
muscle fasciculations
ataxic gait
clonus
diplegia
dysdiadochokinesia
monoplegia
muscle contracture
muscle flaccidity
muscle hypertonia
pes cavus
spastic hemiparesis
spastic monoplegia
spastic paraparesis
spastic quadriparesis
spastic tetraparesis
spastic triplegia
triplegia
upper motor neuron signs
gptkbp:bfsParent gptkb:L1CAM
gptkbp:bfsLayer 7