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familial amyotrophic lateral sclerosis
URI:
https://gptkb.org/entity/familial_amyotrophic_lateral_sclerosis
GPTKB entity
Statements (46)
Predicate
Object
gptkbp:instanceOf
gptkb:disease
neurodegenerative disease
genetic disorder
gptkbp:affects
gptkb:nervous_system
motor neurons
gptkbp:alsoKnownAs
gptkb:familial_ALS
fALS
gptkbp:associatedWith
gptkb:VCP
gptkb:ANG
gptkb:C9orf72
gptkb:FUS
gptkb:SOD1
gptkb:TARDBP
gptkb:UBQLN2
gptkb:ALS2
gptkb:OPTN
gptkb:SETX
gptkbp:complication
gptkb:pneumonia
malnutrition
respiratory failure
paralysis
gptkbp:field
genetics
neurology
gptkbp:firstDescribed
19th century
https://www.w3.org/2000/01/rdf-schema#label
familial amyotrophic lateral sclerosis
gptkbp:ICD-10_code
G12.2
gptkbp:inheritance
autosomal dominant
autosomal recessive
gptkbp:MeSH_ID
D000690
gptkbp:namedAfter
amyotrophic lateral sclerosis
gptkbp:OMIM
105400
gptkbp:onset
adulthood
gptkbp:prevalence
5-10% of ALS cases
gptkbp:prognosis
progressive
fatal
gptkbp:relatedTo
sporadic amyotrophic lateral sclerosis
gptkbp:riskFactor
family history of ALS
gptkbp:symptom
respiratory failure
difficulty speaking
difficulty swallowing
muscle atrophy
muscle weakness
gptkbp:treatment
gptkb:edaravone
gptkb:riluzole
gptkbp:bfsParent
gptkb:ALS1
gptkbp:bfsLayer
6