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gptkbp:instanceOf
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gptkb:disease
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gptkbp:affects
|
gptkb:nervous_system
|
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gptkbp:cause
|
mutation in various genes (e.g., SPAST, ATL1, REEP1, etc.)
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gptkbp:class
|
neurodegenerative disease
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gptkbp:hasOrphanetID
|
353
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|
https://www.w3.org/2000/01/rdf-schema#label
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ORPHA:353
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gptkbp:ICD-10_code
|
G11.4
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gptkbp:inheritance
|
autosomal dominant
autosomal recessive
X-linked
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|
gptkbp:MeSH_ID
|
D020754
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gptkbp:name
|
gptkb:Hereditary_spastic_paraplegia
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|
gptkbp:OMIM
|
182600
|
|
gptkbp:onset
|
childhood
adulthood
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gptkbp:OrphanetURL
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=353
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|
gptkbp:parent
|
gptkb:hereditary_spastic_paraplegia
spastic paraplegia
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gptkbp:prevalence
|
1-9 / 100,000
|
|
gptkbp:symptom
|
bladder dysfunction
progressive spasticity of lower limbs
weakness of lower limbs
sensory impairment
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gptkbp:synonym
|
gptkb:Familial_spastic_paraplegia
gptkb:Lorrain_disease
gptkb:Strümpell-Lorrain_disease
gptkb:Strümpell_disease
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gptkbp:treatment
|
physiotherapy
symptomatic management
antispastic drugs
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|
gptkbp:UMLS_CUI
|
C0026827
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gptkbp:bfsParent
|
gptkb:GM2_gangliosidosis,_type_I
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gptkbp:bfsLayer
|
6
|